Robert Nussbaum, MD
Professor
Pediatrics
School of Medicine

Awards

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• Klaus Joachim Zülch-Prize for Neurological Research, Gertrud Reemtsma Foundation/Max Planck Society, 2011
• Elected Fellow, American College of Physicians, 2010
• Excellence In Teaching Award, UCSF, 2009
• Legacy Award, Lowe Syndrome Association, 2008
• Elected Member, Institute of Medicine, 2004
• Distinguished Service Award, NHGRI/NIH, 2004
• Forbes Lectureship, Medical College of Virginia, 2003
• G. Burroughs Mider Lectureship, NIH, 1999

Education & Training

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• M.D. School of Medicine Harvard University 1975

Websites

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• Profile at UCSF Cancer Center (cancer.ucsf.edu)

Grants and Projects

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• Clinical Genome Resource, NIH, 2013-2021
• Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening, NIH, 2013-2019
• Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy, NIH, 2012-2015
• GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse, NIH, 2010-2014
• Glucocerebrosidase mutations in a mouse synucleinopathy model, NIH, 2009-2012
• Glucocerebrosidase mutations in a mouse synucleinopathy model, NIH, 2009-2012
• Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy, NIH, 2010-2011
• Molecular Genetic Analysis of Lowe's Syndrome, NIH, 1987-1996
• Isolating the Gene for Choroideremia, NIH, 1987-1995
• Postdoctoral Training in Molecular Genetic Research, NIH, 1988-1993
• Molecular Analysis of Fragile X in Somatic Cell Hybrids, NIH, 1984-1988
• Genetics of Parkinson's Disease, NIH, 1900
• Triplet Repeat Amplification in the Fragile X Syndrome, NIH, 1900
• Positional cloning of autosomal dominant Fanconi Syndrom, NIH, 1900
• Studies on mouse vit C transporter, NIH, 1900
• Batten disease, NIH, 1900
• The Lowe Oculocerebrorenal Syndrome, NIH, 1900
• Outcomes of Education and Counseling for HNPCC Testing, NIH, 1900
• Mouse Model for Batten's Disease, NIH, 1900
• Mice Defective in Phosphatidylinositol Signaling, NIH, 1900
• Mutation Analysis in Patients with Lowe Oculocerebrorenal Syndrome, NIH, 1900

Publications (322)

Top publication keywords:
Oculocerebrorenal SyndromePhosphoric Monoester HydrolasesOvarian Neoplasmsalpha-SynucleinBRCA1 ProteinBRCA2 ProteinGenes, BRCA2Genes, BRCA1X ChromosomeParkinson DiseaseNerve Tissue ProteinsGenetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryMutationGenetic Testing

• Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
  Journal of the National Cancer Institute 2024 Heald B, Pirzadeh-Miller S, Ellsworth RE, Nielsen SM, Russell EM, Beitsch P, Esplin ED, Nussbaum RL, Pineda-Alvarez DE, Kurian AW, Hampel H
• Using a chat-based informed consent tool in large-scale genomic research.
  Journal of the American Medical Informatics Association : JAMIA 2024 Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E
• Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.
  Circulation. Genomic and precision medicine 2023 Morales A, Moretz C, Ren S, Smith E, Callis TE, Hall T, Hatchell KE, Nussbaum RL, Regalado E, Rojahn S, Vatta M, Esplin ED, Murillo J
• Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
  American journal of human genetics 2023 van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, …
• Rate of Pathogenic Germline Variants in Patients With Lung Cancer.
  JCO precision oncology 2023 Sorscher S, LoPiccolo J, Heald B, Chen E, Bristow SL, Michalski ST, Nielsen SM, Lacoste A, Keyder E, Lee H, Nussbaum RL, Martins R, Esplin ED

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• Applications of artificial intelligence in clinical laboratory genomics.
  American journal of medical genetics. Part C, Seminars in medical genetics 2023 Aradhya S, Facio FM, Metz H, Manders T, Colavin A, Kobayashi Y, Nykamp K, Johnson B, Nussbaum RL
• Germline Genetic Testing in Unselected Squamous and Non-Squamous Head and Neck Cancers.
  The Laryngoscope 2023 Brake DA, Idler BM, Kunze KL, Golafshar MA, Heald B, Young S, Klint M, Barrus K, Esplin ED, Nussbaum RL, Samadder NJ, Hinni ML, Chang BA
• Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.
  Cureus 2023 Jones JC, Golafshar MA, Coston TW, Rao R, Wysokinska E, Johnson E, Esplin ED, Nussbaum RL, Heald B, Klint M, Barrus K, Uson PL, Nguyen CC, Colon-Otero G, Bekaii-Saab TS, Dronca R, Kunze KL, Samadder …
• Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
  American journal of human genetics 2023 Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S
• A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.
  The Journal of molecular diagnostics : JMD 2022 Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K
• Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
  JAMA neurology 2022 McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S, ELEVIATE Consortium, Haldeman-Englert CR…
• Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
  JAMA network open 2022 Moretz C, Byfield SD, Hatchell KE, Dalton J, Onglao PN, Hang L, Hansen P, Radford C, Nielsen SM, Heald B, Munro SB, Nussbaum RL, Esplin ED
• Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
  JAMA cardiology 2022 Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
• Correction: Germline alterations among Hispanic men with prostate cancer.
  Prostate cancer and prostatic diseases 2022 Pan E, Shaya J, Madlensky L, Randall JM, Javier-Desloges J, Millard FE, Rose B, Parsons JK, Nielsen SM, Hatchell KE, Esplin ED, Nussbaum RL, Weise N, Murphy J, Martinez ME, McKay RR
• Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.
  JCO precision oncology 2022 Esplin ED, Nielsen SM, Bristow SL, Garber JE, Hampel H, Rana HQ, Samadder NJ, Shore ND, Nussbaum RL
• Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
  JCO global oncology 2022 Ossa Gomez CA, Achatz MI, Hurtado M, Sanabria-Salas MC, Sullcahuaman Y, Chávarri-Guerra Y, Dutil J, Nielsen SM, Esplin ED, Michalski ST, Bristow SL, Hatchell KE, Nussbaum RL, Pineda-Alvarez DE, Ashton…
• The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
  Frontiers in genetics 2022 Schmidlen TJ, Bristow SL, Hatchell KE, Esplin ED, Nussbaum RL, Haverfield EV
• Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
  Cancers 2022 Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, …
• Germline alterations among Hispanic men with prostate cancer.
  Prostate cancer and prostatic diseases 2022 Pan E, Shaya J, Madlensky L, Randall JM, Javier-Desloges J, Millard FE, Rose B, Parsons JK, Nielsen SM, Hatchell KE, Esplin ED, Nussbaum RL, Weise N, Murphy J, Martinez ME, McKay RR
• Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.
  Digestive diseases and sciences 2022 Uson PLS, Kunze KL, Golafshar MA, Botrus G, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Kahn A, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ
• Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.
  Obstetrics and gynecology 2021 Nazareth S, Hayward L, Simmons E, Snir M, Hatchell KE, Rojahn S, Slotnick RN, Nussbaum RL
• Inherited TP53 Variants and Risk of Prostate Cancer.
  European urology 2021 Maxwell KN, Cheng HH, Powers J, Gulati R, Ledet EM, Morrison C, Le A, Hausler R, Stopfer J, Hyman S, Kohlmann W, Naumer A, Vagher J, Greenberg SE, Naylor L, Laurino M, Konnick EQ, Shirts BH, AlDubayan…
• Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study.
  Cancer prevention research (Philadelphia, Pa.) 2021 Uson Junior PL, Kunze KL, Golafshar MA, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Barrus K, Mountjoy L, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab…
• Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  BMC medicine 2021 Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, …
• Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
  Pediatric cardiology 2021 Gal DB, Morales A, Rojahn S, Callis T, Garcia J, Priest JR, Truty R, Vatta M, Nussbaum RL, Esplin ED, Hollander SA
• Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
  Clinical and translational gastroenterology 2021 Uson PLS, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T
• Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, …
• Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program.
  Circulation. Genomic and precision medicine 2021 Trachtenberg BH, Shah SK, Nussbaum RL, Bristow SL, Malladi R, Vatta M
• ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
  Journal of the American Heart Association 2021 Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, Mikati MA, …
• Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
  Science immunology 2021 Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja…
• X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
  Science immunology 2021 Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, …
• Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  BMC medicine 2021 Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, …
• Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
  JAMA cardiology 2021 Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ
• Shifting landscapes of human MTHFR missense-variant effects.
  American journal of human genetics 2021 Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese …
• Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark.
  JCO precision oncology 2021 Muller C, Nielsen SM, Hatchell KE, Yang S, Michalski ST, Hamlington B, Nussbaum RL, Esplin ED, Kupfer SS
• Challenges in providing residual risks in carrier testing.
  Prenatal diagnosis 2021 Nussbaum RL, Slotnick RN, Risch NJ
• The genetic architecture of Plakophilin 2 cardiomyopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, …
• One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL,…
• Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study.
  Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2021 Uson PLS, Riegert-Johnson D, Boardman L, Kisiel J, Mountjoy L, Patel N, Lizaola-Mayo B, Borad MJ, Ahn D, Sonbol MB, Jones J, Leighton JA, Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED,…
• Prioritizing genes for systematic variant effect mapping.
  Bioinformatics (Oxford, England) 2021 Kuang D, Truty R, Weile J, Johnson B, Nykamp K, Araya C, Nussbaum RL, Roth FP
• Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.
  Frontiers in medicine 2021 Primorac D, Odak L, Peric V, Catic J, Šikic J, Radeljic V, Manola Š, Nussbaum R, Vatta M, Aradhya S, Sofrenovic T, Matišic V, Molnar V, Skelin A, Mirat J, Brachmann J
• Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
  American journal of human genetics 2021 Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S
• Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
  Circulation. Genomic and precision medicine 2021 Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R
• Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.
  JAMA oncology 2021 Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu …
• Chatbots & artificial intelligence to scale genetic information delivery.
  Journal of genetic counseling 2020 Nazareth S, Nussbaum RL, Siglen E, Wicklund CA
• Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
  JAMA network open 2020 Lincoln SE, Nussbaum RL, Kurian AW, Nielsen SM, Das K, Michalski S, Yang S, Ngo N, Blanco A, Esplin ED
• Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Faulkner N, Aradhya S, Aradhya KW, Nussbaum RL
• The role of exome sequencing in newborn screening for inborn errors of metabolism.
  Nature medicine 2020 Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou …
• Management of Secondary Genomic Findings.
  American journal of human genetics 2020 Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG
• Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
  International journal of neonatal screening 2020 Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R
• Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
  Neurology. Genetics 2020 Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S
• Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
  Pacing and clinical electrophysiology : PACE 2020 Hammami Bomholtz S, Refaat M, Buur Steffensen A, David JP, Espinosa K, Nussbaum R, Wojciak J, Hjorth Bentzen B, Scheinman M, Schmitt N
• Publisher Correction: Shared heritability and functional enrichment across six solid cancers.
  Nature communications 2019 Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, …
• Germline Variants in Highly Selected Patients With Prostate Cancer-In Reply.
  JAMA oncology 2019 Sartor O, Nicolosi P, Nussbaum RL
• Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
  Epilepsia open 2019 Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, …
• Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)".
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nussbaum RL, Haverfield E, Esplin ED, Aradhya S
• OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
  Human molecular genetics 2019 Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O
• Primary aldosteronism associated with a germline variant in CACNA1H.
  BMJ case reports 2019 Wulczyn K, Perez-Reyes E, Nussbaum RL, Park M
• Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
  Journal of the National Cancer Institute 2019 Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, …
• Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.
  JAMA oncology 2019 Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O
• Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
  Circulation. Heart failure 2019 Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, …
• Translational inhibition of α-synuclein by Posiphen normalizes distal colon motility in transgenic Parkinson mice.
  American journal of neurodegenerative disease 2019 Kuo YM, Nwankwo EI, Nussbaum RL, Rogers J, Maccecchini ML
• Shared heritability and functional enrichment across six solid cancers.
  Nature communications 2019 Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, …
• A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.
  The Journal of molecular diagnostics : JMD 2019 Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS
• Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
  JAMA oncology 2019 Blanco AM, Topper S, Nussbaum RL
• Letter to the Editor.
  Journal of Parkinson's disease 2019 Nussbaum RL
• BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
  PLoS genetics 2018 Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, …
• Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A,…
• Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.
  JAMA 2018 Biesecker LG, Nussbaum RL, Rehm HL
• Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL
• Conflicts of interest in genetic counseling: addressing and delivering.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Iacoboni D, Lynch K, Esplin ED, Nussbaum RL
• Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
  Annals of surgical oncology 2018 Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL
• Recurrent Renal Cysts in a Transplanted Kidney.
  Annals of internal medicine 2018 Park M, Nussbaum RL
• Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S
• Genetics of Synucleinopathies.
  Cold Spring Harbor perspectives in medicine 2018 Nussbaum RL
• Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.
  Molecular genetics & genomic medicine 2018 Aradhya S, Nussbaum RL
• Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.
  Clinical journal of gastroenterology 2018 Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK
• Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
  Human mutation 2018 Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, …
• Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)
• A framework for exhaustively mapping functional missense variants.
  Molecular systems biology 2017 Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, Yang F, Tasan M, Tan G, Yang S, Fowler DM, Nussbaum R, Bloom JD, Vidal M, Hill DE, Aloy P, Roth FP
• Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.
  Genetics in medicine : official journal of the American College of Medical Genetics 2017 Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S
• Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
  Nature genetics 2017 Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM, ABCTB …
• α-Synuclein in gut endocrine cells and its implications for Parkinson's disease.
  JCI insight 2017 Chandra R, Hiniker A, Kuo YM, Nussbaum RL, Liddle RA
• Sources of discordance among germ-line variant classifications in ClinVar.
  Genetics in medicine : official journal of the American College of Medical Genetics 2017 Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S
• Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects.
  Journal of neural transmission (Vienna, Austria : 1996) 2017 Tomlinson JJ, Shutinoski B, Dong L, Meng F, Elleithy D, Lengacher NA, Nguyen AP, Cron GO, Jiang Q, Roberson ED, Nussbaum RL, Majbour NK, El-Agnaf OM, Bennett SA, Lagace DC, Woulfe JM, Sad S, Brown EG,…
• CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2017 Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG
• Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
  JCO precision oncology 2017 Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL
• Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
  Nature genetics 2017 Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, …
• Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
  Cell 2017 Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, …
• Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
  European journal of human genetics : EJHG 2017 Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT, BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D, EMBRACE, Godwin AK, Meindl A, Schmutzler RK, …
• Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Nussbaum RL, Yang S, Lincoln SE
• The Identification of Alpha-Synuclein as the First Parkinson Disease Gene.
  Journal of Parkinson's disease 2017 Nussbaum RL
• Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.
  Journal of the American Society of Nephrology : JASN 2016 Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S
• Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
  Breast cancer research : BCR 2016 Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, …
• Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
  Breast cancer research and treatment 2016 Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P,…
• Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
  Nature communications 2016 Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, …
• Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
  Breast cancer research : BCR 2016 Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-…
• The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.
  Cancer research 2016 Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, …
• Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
  Nature communications 2016 Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, …
• Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
  Nature genetics 2016 Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, …
• Toward clinical genomics in everyday medicine: perspectives and recommendations.
  Expert review of molecular diagnostics 2016 Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA,…
• Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
  Breast cancer research : BCR 2016 Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, …
• USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
  Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J
• BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
  Journal of the National Cancer Institute 2015 Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, kConFab Investigators, James PA, …
• ClinGen and Genetic Testing.
  The New England journal of medicine 2015 Nussbaum RL, Rehm HL, ClinGen
• Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.
  The Journal of clinical endocrinology and metabolism 2015 Shah AD, Hsiao EC, O'Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang Y, Mathew AS, Shoback D, Block-Kurbisch I
• High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.
  Scientific reports 2015 Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N
• ClinGen--the Clinical Genome Resource.
  The New England journal of medicine 2015 Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, ClinGen
• No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
  Gynecologic oncology 2015 Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modif, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, …
• An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
  Breast cancer research : BCR 2015 Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS, Breast Cancer Family Registry, Janavicius R, …
• Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
  JAMA 2015 Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL, CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R,…
• Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
  PloS one 2015 Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, …
• Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
  Nature genetics 2015 Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, …
• Prolongation of Chemically-Induced Methemoglobinemia in Mice Lacking α-synuclein: A Novel Pharmacologic and Toxicologic Phenotype.
  Toxicology reports 2015 Kuo YM, Nussbaum RL
• Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
  Breast cancer research : BCR 2014 Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, …
• A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
  Human molecular genetics 2014 Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ
• Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.
  Clinical cancer research : an official journal of the American Association for Cancer Research 2014 Candido-dos-Reis FJ, Song H, Goode EL, Cunningham JM, Fridley BL, Larson MC, Alsop K, Dicks E, Harrington P, Ramus SJ, de Fazio A, Mitchell G, Fereday S, Bolton KL, Gourley C, Michie C, Karlan B, …
• Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.
  Brain : a journal of neurology 2014 Fishbein I, Kuo YM, Giasson BI, Nussbaum RL
• Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
  Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2014 Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC…
• Renal cell carcinoma in tuberous sclerosis complex.
  The American journal of surgical pathology 2014 Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL
• Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
  Cancer 2014 Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber …
• Transgenic mice expressing S129 phosphorylation mutations in α-synuclein.
  Neuroscience letters 2014 Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL
• Research on the premotor symptoms of Parkinson's disease: clinical and etiological implications.
  Environmental health perspectives 2013 Chen H, Burton EA, Ross GW, Huang X, Savica R, Abbott RD, Ascherio A, Caviness JN, Gao X, Gray KA, Hong JS, Kamel F, Jennings D, Kirshner A, Lawler C, Liu R, Miller GW, Nussbaum R, Peddada SD, Rick AC…
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2013 Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG, American College of Medical Genetics and …
• Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
  Circulation. Arrhythmia and electrophysiology 2013 Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N
• Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration.
  The Journal of clinical investigation 2012 Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, Cabin DE, Nussbaum RL, Brühmann J, Brandt R…
• α-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system.
  Journal of neural transmission (Vienna, Austria : 1996) 2012 Mollenhauer B, Trautmann E, Otte B, Ng J, Spreer A, Lange P, Sixel-Döring F, Hakimi M, Vonsattel JP, Nussbaum R, Trenkwalder C, Schlossmacher MG
• Exploring concordance and discordance for return of incidental findings from clinical sequencing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2012 Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ
• Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing".
  Surgery 2012 Nussbaum RL
• Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
  JAMA 2012 Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail …
• Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
  Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2011 Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, …
• Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
  American journal of medical genetics. Part A 2011 Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE
• Reply to Professor Lefthériotis et al.
  Molecular genetics and metabolism 2011 Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA
• Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein.
  The Journal of biological chemistry 2011 Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH
• NT5E mutations and arterial calcifications.
  The New England journal of medicine 2011 St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, …
• Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
  Molecular genetics and metabolism 2011 Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA
• MutaDATABASE: a centralized and standardized DNA variation database.
  Nature biotechnology 2011 Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P
• Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
  Journal of the American Society of Nephrology : JASN 2010 Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL
• Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
  Mammalian genome : official journal of the International Mammalian Genome Society 2010 Bothwell SP, Farber LW, Hoagland A, Nussbaum RL
• QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy.
  Pacing and clinical electrophysiology : PACE 2010 Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM
• Genetic/familial high-risk assessment: breast and ovarian.
  Journal of the National Comprehensive Cancer Network : JNCCN 2010 Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B…
• Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice.
  The Journal of clinical investigation 2010 Corpe CP, Tu H, Eck P, Wang J, Faulhaber-Walter R, Schnermann J, Margolis S, Padayatty S, Sun H, Wang Y, Nussbaum RL, Espey MG, Levine M
• X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.
  Mammalian genome : official journal of the International Mammalian Genome Society 2010 Bernard DJ, Nussbaum RL
• Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.
  Human molecular genetics 2010 Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL
• Addressing the challenges of the clinical application of pharmacogenetic testing.
  Clinical pharmacology and therapeutics 2009 Ikediobi ON, Shin J, Nussbaum RL, Phillips KA, UCSF Center for Translational and Policy Research on Personalized Medicine, Walsh JM, Ladabaum U, Marshall D
• A single nucleotide polymorphism in the 3'UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease.
  Neuroscience letters 2009 Sotiriou S, Gibney G, Baxevanis AD, Nussbaum RL
• Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.
  Human molecular genetics 2009 Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OM, Schlossmacher MG, Nussbaum RL, Chiba-Falek O
• Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration.
  PloS one 2009 Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, García-Arencíbia M, Fernández-Ruiz J, …
• Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin.
  Journal of general internal medicine 2009 Kangelaris KN, Bent S, Nussbaum RL, Garcia DA, Tice JA
• Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.
  Journal of inherited metabolic disease 2009 Suchy SF, Cronin JC, Nussbaum RL
• Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions.
  Molecular & cellular proteomics : MCP 2008 McFarland MA, Ellis CE, Markey SP, Nussbaum RL
• Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification.
  Experimental cell research 2008 Cole NB, Dieuliis D, Leo P, Mitchell DC, Nussbaum RL
• Research ethics recommendations for whole-genome research: consensus statement.
  PLoS biology 2008 Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, Meslin EM, Murphy J, Nussbaum …
• Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin.
  Genetics in medicine : official journal of the American College of Medical Genetics 2008 Flockhart DA, O'Kane D, Williams MS, Watson MS, Flockhart DA, Gage B, Gandolfi R, King R, Lyon E, Nussbaum R, O'Kane D, Schulman K, Veenstra D, Williams MS, Watson MS, ACMG Working Group on …
• Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
  Neuro-degenerative diseases 2007 Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, …
• Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.
  Gene 2007 Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K
• DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers.
  Neurology 2007 Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink…
• Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4.
  Traffic (Copenhagen, Denmark) 2007 Loovers HM, Kortholt A, de Groote H, Whitty L, Nussbaum RL, van Haastert PJ
• Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6.
  Neurobiology of disease 2006 Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Müller K, Dröse S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
• Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.
  Movement disorders : official journal of the Movement Disorder Society 2006 Chiba-Falek O, Lopez GJ, Nussbaum RL
• The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
  Molecular genetics and metabolism 2006 Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL
• Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism.
  Biochemistry 2006 Golovko MY, Rosenberger TA, Faergeman NJ, Feddersen S, Cole NB, Pribill I, Berger J, Nussbaum RL, Murphy EJ
• Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein.
  Molecular and cellular biology 2005 Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barceló-Coblijn GC, Nussbaum RL
• Mining yeast in silico unearths a golden nugget for mitochondrial biology.
  The Journal of clinical investigation 2005 Nussbaum RL
• Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice.
  Journal of neurochemistry 2005 Castagnet PI, Golovko MY, Barceló-Coblijn GC, Nussbaum RL, Murphy EJ
• Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding.
  Biochemistry 2005 Golovko MY, Faergeman NJ, Cole NB, Castagnet PI, Nussbaum RL, Murphy EJ
• Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype.
  Nature neuroscience 2005 Meyer-Lindenberg A, Kohn PD, Kolachana B, Kippenhan S, McInerney-Leo A, Nussbaum R, Weinberger DR, Berman KF
• Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.
  Neuroscience letters 2005 Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J
• Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
  Annals of neurology 2005 Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB
• Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice.
  Blood 2005 Lelievre E, Bourbon PM, Duan LJ, Nussbaum RL, Fong GH
• What is special about the "human" in "human genetics"?
  American journal of human genetics 2005 Nussbaum RL
• Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene.
  American journal of human genetics 2005 Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL
• Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background.
  Neurobiology of aging 2005 Cabin DE, Gispert-Sanchez S, Murphy D, Auburger G, Myers RR, Nussbaum RL
• Dent Disease with mutations in OCRL1.
  American journal of human genetics 2004 Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ
• Structure and dynamics of micelle-bound human alpha-synuclein.
  The Journal of biological chemistry 2004 Ulmer TS, Bax A, Cole NB, Nussbaum RL
• Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments.
  The Journal of biological chemistry 2004 Cole NB, Murphy DD, Lebowitz J, Di Noto L, Levine RL, Nussbaum RL
• Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
  Archives of neurology 2004 Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-…
• Parkinsonism among Gaucher disease carriers.
  Journal of medical genetics 2004 Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E
• Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.
  Neuroscience letters 2004 Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O
• Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.
  FEBS letters 2004 Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R
• Asking fathers: a study of psychosocial adaptation.
  Haemophilia : the official journal of the World Federation of Hemophilia 2004 Herrick EK, Nussbaum R, Holtzman NA, Wissow L
• SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
  Neurology 2004 Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry …
• Genetics and alcoholism among at-risk relatives I: perceptions of cause, risk, and control.
  American journal of medical genetics. Part A 2004 Gamm JL, Nussbaum RL, Biesecker BB
• Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk.
  American journal of medical genetics. Part A 2004 Gamm JL, Nussbaum RL, Bowles Biesecker B
• Prevalence of Parkinson's disease in populations of African ancestry: a review.
  Journal of the National Medical Association 2004 McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL
• Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
  Science (New York, N.Y.) 2004 Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks …
• alpha-Synuclein locus triplication causes Parkinson's disease.
  Science (New York, N.Y.) 2003 Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, …
• Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation.
  Molecular and cellular neurosciences 2003 Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum RL
• Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.
  Human genetics 2003 Chiba-Falek O, Touchman JW, Nussbaum RL
• Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2).
  FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003 Bornstein SR, Yoshida-Hiroi M, Sotiriou S, Levine M, Hartwig HG, Nussbaum RL, Eisenhofer G
• Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.
  Nature biotechnology 2003 Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P
• Alzheimer's disease and Parkinson's disease.
  The New England journal of medicine 2003 Nussbaum RL, Ellis CE
• The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.
  Genome research 2003 Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ
• Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.
  Molecular genetics and metabolism 2003 Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA
• Regulation of alpha-synuclein expression: implications for Parkinson's disease.
  Cold Spring Harbor symposia on quantitative biology 2003 Chiba-Falek O, Nussbaum RL
• The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
  American journal of human genetics 2002 Suchy SF, Nussbaum RL
• Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2002 Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum RL
• Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.
  Nature medicine 2002 Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum RL
• Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase.
  Biology of reproduction 2002 Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum RL
• Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
  Molecular and cellular neurosciences 2002 Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM
• A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration.
  Neuroscience letters 2002 Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH
• Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase.
  Mammalian genome : official journal of the International Mammalian Genome Society 2002 Bi L, Okabe I, Bernard DJ, Nussbaum RL
• Proposed guidelines for papers describing DNA polymorphism-disease associations.
  Human genetics 2002 Cooper DN, Nussbaum RL, Krawczak M
• Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b.
  Developmental biology 2001 Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum RL
• Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system.
  Human molecular genetics 2001 Chiba-Falek O, Nussbaum RL
• Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein.
  The Journal of biological chemistry 2001 Cole NB, Murphy DD, Grider T, Rueter S, Brasaemle D, Nussbaum RL
• High resolution MRI reveals global changes in brains of Cln3 mutant mice.
  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001 Greene ND, Lythgoe MF, Thomas DL, Nussbaum RL, Bernard DJ, Mitchison HM
• Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.
  Genome research 2001 Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL
• Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter.
  DNA research : an international journal for rapid publication of reports on genes and genomes 2000 Gispert S, Dutra A, Lieberman A, Friedlich D, Nussbaum RL
• Unusual renal features of Lowe syndrome in a mildly affected boy.
  American journal of medical genetics 2000 Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R
• alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases.
  The Journal of biological chemistry 2000 Ellis CE, Schwartzberg PL, Grider TL, Fink DW, Nussbaum RL
• Asking women to see nurses or unfamiliar physicians as part of primary care redesign.
  The American journal of managed care 2000 Thompson M, Nussbaum R
• Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1.
  Nature neuroscience 2000 Nussbaum R, Auburger G
• Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
  The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2000 Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF
• An HMO survey on mass customization of healthcare delivery for women.
  Women's health issues : official publication of the Jacobs Institute of Women's Health 2000 Thompson M, Nussbaum R
• Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].
  Neurobiology of disease 1999 Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL
• Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase.
  The Journal of biological chemistry 1999 Bi L, Okabe I, Bernard DJ, Wynshaw-Boris A, Nussbaum RL
• A murine model for juvenile NCL: gene targeting of mouse Cln3.
  Molecular genetics and metabolism 1999 Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM
• Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain.
  The Journal of biological chemistry 1999 Bascom RA, Srinivasan S, Nussbaum RL
• Molecular confirmation of carriers for Lowe syndrome.
  Ophthalmology 1999 Lin T, Lewis RA, Nussbaum RL
• Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.
  DNA research : an international journal for rapid publication of reports on genes and genomes 1998 Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, …
• Genomic organization and expression of the human beta-synuclein gene (SNCB).
  Genomics 1998 Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum RL, Polymeropoulos MH
• Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease.
  Molecular psychiatry 1998 Mezey E, Dehejia AM, Harta G, Tresser N, Suchy SF, Nussbaum RL, Brownstein MJ, Polymeropoulos MH
• First report of prenatal biochemical diagnosis of Lowe syndrome.
  Prenatal diagnosis 1998 Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL
• Identification, localization and characterization of the human gamma-synuclein gene.
  Human genetics 1998 Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum RL, Polymeropoulos MH
• Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice.
  Genomics 1998 Lavedan C, Grabczyk E, Usdin K, Nussbaum RL
• Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
  The Journal of clinical investigation 1998 Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL
• Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
  Molecular genetics and metabolism 1998 Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL
• Putting the parkin into Parkinson's.
  Nature 1998 Nussbaum RL
• Contig map of the Parkinson's disease region on 4q21-q23.
  DNA research : an international journal for rapid publication of reports on genes and genomes 1998 Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH
• Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis.
  European journal of cell biology 1997 Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy SF, Emr S, De Camilli P, Nussbaum R
• Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice.
  Human genetics 1997 Lavedan CN, Garrett L, Nussbaum RL
• Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
  Science (New York, N.Y.) 1997 Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM…
• Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
  American journal of human genetics 1997 Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL
• Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
  Human genetics 1997 Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC
• Genetics of Parkinson's disease.
  Human molecular genetics 1997 Nussbaum RL, Polymeropoulos MH
• Regulation of taurocholate and ursodeoxycholate uptake in hamster hepatocytes by Ca(2+)-mobilizing agents.
  The American journal of physiology 1996 Bouscarel B, Reza S, Dougherty LA, Fromm H, Nussbaum R
• Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.
  Science (New York, N.Y.) 1996 Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC
• Cognitive deficits in a murine model of the eosinophilia-myalgia syndrome: a preliminary report.
  Neurotoxicology and teratology 1996 Middaugh LD, Nussbaum R, Ludwicka A, Bolster MB, Silver RM
• Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene.
  Genomics 1995 Okabe I, Nussbaum RL
• The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
  The EMBO journal 1995 Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G
• Nondisjunction rates and abnormal embryonic development in a mouse cross between heterozygotes carrying a (7, 18) robertsonian translocation chromosome.
  Genetics 1995 Oakey RJ, Matteson PG, Litwin S, Tilghman SM, Nussbaum RL
• The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.
  American journal of human genetics 1995 Olivos-Glander IM, Jänne PA, Nussbaum RL
• Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
  Human molecular genetics 1995 May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C
• Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.
  Genomics 1995 Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL
• FXR1, an autosomal homolog of the fragile X mental retardation gene.
  The EMBO journal 1995 Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G
• Isolation and regional mapping of 110 chromosome 22 STSs.
  Genomics 1994 Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S
• Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome.
  Cell 1994 Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G
• Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
  Cytogenetics and cell genetics 1994 Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL
• The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
  Cell 1993 Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G
• Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
  Human molecular genetics 1993 Leahey AM, Charnas LR, Nussbaum RL
• Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region.
  Genomics 1993 Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL
• Report of the third international workshop on human chromosome 22 mapping.
  Cytogenetics and cell genetics 1993 Emanuel BS, Buetow K, Nussbaum R, Scambler P, Lipinski M, Overton GC
• Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae.
  Nucleic acids research 1992 Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum RL
• The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.
  Nature 1992 Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL
• Dual developments in diabetes.
  Nature genetics 1992 Spielman RS, Nussbaum RL
• Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
  American journal of human genetics 1992 Puck JM, Stewart CC, Nussbaum RL
• Isolation of a candidate gene for choroideremia.
  Proceedings of the National Academy of Sciences of the United States of America 1992 Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL
• Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation.
  Genomics 1992 Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL
• Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes.
  Journal of inherited metabolic disease 1992 Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum RL
• Linkage analysis in X-linked ocular albinism.
  Genomics 1991 Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA
• In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA.
  American journal of human genetics 1991 Montanaro V, Casamassimi A, D'Urso M, Yoon JY, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S
• Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation.
  American journal of medical genetics 1990 Reilly DS, Nussbaum RL
• Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
  Genomics 1990 Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum RL
• Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.
  Genomics 1990 Reilly DS, Lewis RA, Nussbaum RL
• Linkage studies and deletion screening in choroideremia.
  Journal of medical genetics 1990 Wright AF, Nussbaum RL, Bhattacharya SS, Jay M, Lesko JG, Evans HJ, Jay B
• Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.
  American journal of human genetics 1990 Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum R
• Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
  The Journal of pediatrics 1990 Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM
• DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation.
  Genomics 1990 Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL
• Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.
  Ophthalmology 1990 Lewis RA, Nussbaum RL, Stambolian D
• Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.
  Cytometry 1990 Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J
• Report of the committee on the genetic constitution of the X chromosome.
  Cytogenetics and cell genetics 1990 Davies KE, Mandel JL, Monaco AP, Nussbaum RL, Willard HF
• An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
  The Journal of clinical investigation 1989 Lee JT, Nussbaum RL
• An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.
  American journal of human genetics 1989 Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL
• Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
  American journal of human genetics 1989 Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL
• RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP.
  Nucleic acids research 1989 Smead DL, Nussbaum RL, Puck JM
• Detection of translocation breakpoints by pulsed field gel analysis: practical considerations.
  Nucleic acids research 1989 Reilly DS, Sosnoski DM, Nussbaum RL
• Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.
  Human genetics 1989 Skare JC, Grierson HL, Sullivan JL, Nussbaum RL, Purtilo DT, Sylla BS, Lenoir GM, Reilly DS, White BN, Milunsky A
• ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation.
  Cell 1989 Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC
• Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier.
  Genomics 1989 Musarella MA, Anson-Cartwright L, Burghes A, Worton RG, Lesko JG, Nussbaum RL
• X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.
  American journal of human genetics 1989 Puck JM, Nussbaum RL, Smead DL, Conley ME
• New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.
  American journal of human genetics 1989 Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum RL
• Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
  Genomics 1989 Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH
• Report of the committee on the genetic constitution of the X chromosome.
  Cytogenetics and cell genetics 1989 Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE
• Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
  The New England journal of medicine 1988 Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL
• Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
  The Journal of clinical investigation 1988 Maddalena A, Spence JE, O'Brien WE, Nussbaum RL
• Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.
  The Journal of clinical investigation 1988 Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS
• Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.
  American journal of human genetics 1988 Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL
• Report of the committee on the genetic constitution of the X chromosome.
  Cytogenetics and cell genetics 1988 Mandel JL, Willard HF, Nussbaum RL, Davies KE, Romeo G
• Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
  Proceedings of the National Academy of Sciences of the United States of America 1987 Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH
• Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
  The Journal of clinical investigation 1987 Puck JM, Nussbaum RL, Conley ME
• Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.
  American journal of human genetics 1987 Lesko JG, Lewis RA, Nussbaum RL
• Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia.
  Oncogene 1987 van Tuinen P, Johnson KR, Ledbetter SA, Nussbaum RL, Rovera G, Ledbetter DH
• Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.
  The Journal of clinical investigation 1987 Silver DN, Lewis RA, Nussbaum RL
• Implications of fragile X expression in normal males for the nature of the mutation.
  Nature 1986 Ledbetter DH, Ledbetter SA, Nussbaum RL
• RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase.
  American journal of human genetics 1986 Lesko JG, Nussbaum RL
• New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
  American journal of human genetics 1986 Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE
• A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site.
  American journal of medical genetics 1986 Nussbaum RL, Airhart SD, Ledbetter DH
• Caffeine enhances fragile (X) expression in somatic cell hybrids.
  American journal of medical genetics 1986 Ledbetter DH, Airhart SD, Nussbaum RL
• Fragile X syndrome: a unique mutation in man.
  Annual review of genetics 1986 Nussbaum RL, Ledbetter DH
• Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis.
  American journal of medical genetics 1986 Nussbaum RL, Airhart SD, Ledbetter DH
• Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male.
  American journal of medical genetics 1986 Ledbetter DH, Airhart SD, Nussbaum RL
• Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression.
  American journal of human genetics 1985 Nussbaum RL, Walmsley RM, Lesko JG, Airhart SD, Ledbetter DH
• Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity.
  American journal of human genetics 1985 Cantú ES, Nussbaum RL, Airhart SD, Ledbetter DH
• Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
  The Journal of clinical endocrinology and metabolism 1985 Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI
• Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24.
  Ophthalmology 1985 Lewis RA, Nussbaum RL, Ferrell R
• Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
  American journal of human genetics 1985 Nussbaum RL, Lewis RA, Lesko JG, Ferrell R
• Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.
  Human genetics 1985 Nussbaum RL, Lewis RA, Lesko JG, Ferrell R
• Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
  Annals of the New York Academy of Sciences 1985 Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI
• Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter.
  Somatic cell and molecular genetics 1984 Boggs BA, Nussbaum RL
• Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.
  American journal of human genetics 1984 Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL
• Organization of the HPRT gene and related sequences in the human genome.
  Somatic cell and molecular genetics 1984 Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC
• The Gardner syndrome. Significance of ocular features.
  Ophthalmology 1984 Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE
• Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene.
  Advances in experimental medicine and biology 1984 Chinault AC, Brennand J, Konecki DS, Nussbaum RL, Caskey CT
• Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm.
  Human genetics 1984 Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, Latte B, Siniscalco M
• Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
  The Journal of clinical investigation 1983 Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN
• A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.
  Proceedings of the National Academy of Sciences of the United States of America 1983 Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT
• Miller-Dieker syndrome: lissencephaly and monosomy 17p.
  The Journal of pediatrics 1983 Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH
• Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid.
  Human genetics 1983 Nussbaum RL, Airhart SD, Ledbetter DH
• Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae.
  Biochemistry 1981 Nussbaum RL, Caskey CT
• Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation.
  Clinical genetics 1980 Caskey CT, Nussbaum RL, Cohan LC, Pollack L
• Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.
  Journal of pediatric ophthalmology 1976 Nussbaum R, Puck J