Elliott Sherr, MD, PhD
Professor
Neurology
School of Medicine

He also co-directs UCSF's program for care of children with neurological diseases caused by abnormal metabolism, such as phenylketonuria.

Sherr directs the UCSF Brain Development Research Program, which studies the genetics and biology of autism and epilepsy. His work receives funding from the National Institutes of Health and March of Dimes.

Sherr graduated from Stanford University with bachelor's degrees in philosophy and biology. He earned his medical degree and a doctorate in neuroscience at Columbia University. At UCSF, he completed a residency in pediatrics a fellowship in child neurology.

• Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…
• Modulating the Unfolded Protein Response with ISRIB Mitigates Cisplatin Ototoxicity.
  bioRxiv : the preprint server for biology 2023 Li J, Rouse SL, Matthews IR, Sherr EH, Chan DK
• Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
  medRxiv : the preprint server for health sciences 2023 Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H…
• Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
  Brain communications 2023 Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, …
• Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
  American journal of human genetics 2023 Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, …
• The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
  Trends in molecular medicine 2023 Gadek M, Sherr EH, Floor SN
• Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Genetics in medicine : official journal of the American College of Medical Genetics 2023 Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK,…
• ARF1-related disorder: phenotypic and molecular spectrum.
  Journal of medical genetics 2023 de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, …
• ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
  Brain : a journal of neurology 2023 Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux …
• De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
  Journal of human genetics 2022 Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H
• Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
  Nature communications 2022 Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, …
• Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
  Developmental cell 2022 Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, …
• Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
  Genetics in medicine : official journal of the American College of Medical Genetics 2022 Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, …
• Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.
  Neurology. Genetics 2022 Moufawad El Achkar C, Rosen A, Kessler SK, Steinman KJ, Spence SJ, Ramocki M, Marco EJ, Green Snyder L, Spiro JE, Chung WK, Annapurna P, Sherr EH
• ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
  Annals of clinical and translational neurology 2022 Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, …
• Newborn screening for neurodevelopmental diseases: Are we there yet?
  American journal of medical genetics. Part C, Seminars in medical genetics 2022 Chung WK, Berg JS, Botkin JR, Brenner SE, Brosco JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Lloyd-Puryear M, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z
• De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.
  Pediatric neurology 2022 Siafa L, Argilli E, Sherr EH, Myers KA
• Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
  Journal of human genetics 2021 Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L
• O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
  Journal of medical genetics 2021 Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK,…
• Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys.
  Molecular autism 2021 Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ
• Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
  American journal of human genetics 2021 Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli …
• Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
  American journal of human genetics 2021 Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M,…
• DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.
  eLife 2021 Morcom L, Edwards TJ, Rider E, Jones-Davis D, Lim JW, Chen KS, Dean RJ, Bunt J, Ye Y, Gobius I, Suárez R, Mandelstam S, Sherr EH, Richards LJ
• Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
  American journal of human genetics 2021 Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N,…
• DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.
  eLife 2021 Morcom L, Gobius I, Marsh AP, Suárez R, Lim JW, Bridges C, Ye Y, Fenlon LR, Zagar Y, Douglass AM, Donahoo AS, Fothergill T, Shaikh S, Kozulin P, Edwards TJ, Cooper HM, IRC5 Consortium, Sherr EH, …
• Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.
  Pediatric research 2021 Numis AL, da Gente G, Sherr EH, Glass HC
• 16p11.2 deletion syndrome.
  Current opinion in genetics & development 2021 Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE
• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
  Science advances 2020 Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J,…
• Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy.
  Scientific reports 2020 Rouse SL, Matthews IR, Li J, Sherr EH, Chan DK
• Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
  Human mutation 2020 Simmons RL, Li H, Alten B, Santos MS, Jiang R, Paul B, Lalani SJ, Cortesi A, Parks K, Khandelwal N, Smith-Packard B, Phoong MA, Chez M, Fisher H, Scheuerle AE, Shinawi M, Hussain SA, Kavalali ET, …
• Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
  Annals of neurology 2020 Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, …
• Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum.
  NeuroImage 2020 Edwards TJ, Fenlon LR, Dean RJ, Bunt J, IRC5 Consortium, Sherr EH, Richards LJ
• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
  Neuron 2020 Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, …
• De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
  Journal of medical genetics 2020 Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH
• Chapter 10 Lissencephalies and axon guidance disorders.
  2020 E.H. Sherr, B.L. Johnson-Kerner, L. Fernandez
• Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.
  Biological psychiatry. Cognitive neuroscience and neuroimaging 2019 Matsuzaki J, Berman JI, Blaskey L, Kuschner ES, Gaetz L, Mukherjee P, Buckner RL, Nagarajan SS, Chung WK, Sherr EH, Roberts TPL, Simons VIP Consortium
• De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
  American journal of human genetics 2019 Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M,…
• Cerebrospinal fluid vasopressin and symptom severity in children with autism.
  2019 Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ
• Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2019 Hinkley LBN, Dale CL, Luks TL, Findlay AM, Bukshpun P, Pojman N, Thieu T, Chung WK, Berman J, Roberts TPL, Mukherjee P, Sherr EH, Nagarajan SS
• Poster Withdrawn: QUANTIFYING THE EFFECTS OF 16P11.2 CNVs ON BRAIN STRUCTURE, A MULTI-SITE ‘GENETIC-FIRST’MRI STUDY.
  European Neuropsychopharmacology 2019 Sandra Martin-Brevet, Borja Rodriguez-Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne M. Maillard, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Jacques S. Beckmann, Nouchine …
• NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
  American journal of human genetics 2018 Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L…
• Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.
  The Journal of clinical investigation 2018 Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH
• Cerebrospinal fluid vasopressin and symptom severity in children with autism.
  Annals of neurology 2018 Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ
• Genomic and phenotypic delineation of congenital microcephaly.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M,…
• Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.
  BMC medical genomics 2018 Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH
• Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.
  Pediatric neurology 2018 Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH
• Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.
  Science translational medicine 2018 Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP
• Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
  Biological psychiatry 2018 Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P, 16p11.2 European Consortium, Simons Variation in …
• Genotype-phenotype correlations in individuals with pathogenic RERE variants.
  Human mutation 2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, …
• Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.
  Scientific reports 2018 Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS
• Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
  Nature neuroscience 2018 Gstrein T, Edwards A, Pristoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, …
• Cover Image, Volume 39, Issue 1.
  Human Mutation 2018 Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy …
• DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
  Human mutation 2017 Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh…
• Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.
  Acta neuropathologica 2017 Olney NT, Alquezar C, Ramos EM, Nana AL, Fong JC, Karydas AM, Taylor JB, Stephens ML, Argouarch AR, Van Berlo VA, Dokuru DR, Sherr EH, Jicha GA, Dillon WP, Desikan RS, De May M, Seeley WW, Coppola G, …
• Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.
  Radiology 2017 Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH
• ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
  Neurology. Genetics 2017 Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, …
• Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
  Nature genetics 2017 Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V,…
• Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  Nature genetics 2017 Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat…
• 26 Disorders of Forebrain Development.
  Swaiman\u0027s Pediatric Neurology 2017 Elliott H. Sherr, Jin S. Hahn
• 51 Global Developmental Delay and Intellectual Disability.
  Swaiman\u0027s Pediatric Neurology 2017 Elliott H. Sherr, Michael I. Shevell
• 57 Autistic Spectrum Disorders.
  Swaiman\u0027s Pediatric Neurology 2017 Deborah G. Hirtz, Ann Wagner, Pauline A. Filipek, Elliott H. Sherr
• Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
  Brain : a journal of neurology 2016 Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ
• Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta).
  PloS one 2016 Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr EH, Garner JP, Capitanio JP, Parker KJ
• Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
  Cell reports 2016 Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ
• Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study.
  Translational psychiatry 2016 Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco EJ
• Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  Nature genetics 2016 Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat…
• Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
  Journal of autism and developmental disorders 2016 Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E,…
• 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
  American journal of medical genetics. Part A 2016 Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH, Simons VIP Consortium
• Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
  Human brain mapping 2016 Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P
• Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
  American journal of medical genetics. Part A 2016 Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung …
• The Contribution of the Corpus Callosum to Language Lateralization.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2016 Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS
• De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
  American journal of human genetics 2016 Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A,…
• Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.
  AJNR. American journal of neuroradiology 2016 Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP
• A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
  Journal of neurogenetics 2016 Bassuk AG, Sherr EH
• Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
  JAMA psychiatry 2016 D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, …
• Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.
  Neurology 2015 Uzgil B, Sherr EH
• Abnormal auditory and language pathways in children with 16p11.2 deletion.
  NeuroImage. Clinical 2015 Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP
• Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
  Neurology. Genetics 2015 Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ
• White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.
  PloS one 2015 Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P
• Clinical phenotype of the recurrent 1q21.1 copy-number variant.
  Genetics in medicine : official journal of the American College of Medical Genetics 2015 Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin …
• De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
  Annals of clinical and translational neurology 2015 Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, …
• Mapk/Erk activation in an animal model of social deficits; a possible link to autism (P2.226).
  Neurology 2015 Alirexa Faridar, Dorothy Jones-Davis, Eric Rider, Jiang Li, Ilan Gobius, Laura Marcom, Linda Richards, Elliott Sherr
• Corpus callosum in cognitive and sensory processing: insights into autism.
  Future Neurology 2015 Carly Demopoulos, Nina Yu, Lynn K Paul, Elliott H Sherr, Elysa J Marco
• Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.
  Cerebral cortex (New York, N.Y. : 1991) 2015 Jenkins J, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP
• Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile.
  Neuropsychology 2014 Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E
• Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.
  Molecular autism 2014 Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH
• Epileptic encephalopathies: new genes and new pathways.
  Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2014 Nieh SE, Sherr EH
• Opposing brain differences in 16p11.2 deletion and duplication carriers.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2014 Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL, Simons VIP Consortium
• The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
  Biological psychiatry 2014 Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, …
• De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
  American journal of medical genetics. Part A 2014 Tunovic S, Barkovich J, Sherr EH, Slavotinek AM
• Aberrant white matter microstructure in children with 16p11.2 deletions.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2014 Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P, Simons VIP Consortium
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
  American journal of human genetics 2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, …
• Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.
  Brain : a journal of neurology 2014 Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ
• Autism Spectrum Disorder.
  Encyclopedia of the Neurological Sciences 2014 E.J. Marco, E.H. Sherr
• Mental Retardation/Intellectual Disability.
  Encyclopedia of the Neurological Sciences 2014 S. Esmaeeli-Nieh, E.H. Sherr
• Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum.
  Brain connectivity 2013 Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P
• Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
  PLoS genetics 2013 Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns…
• De novo mutations in epileptic encephalopathies.
  Nature 2013 Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, …
• Neurodevelopmental disorders and genetic testing: current approaches and future advances.
  Annals of neurology 2013 Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S
• The epilepsy phenome/genome project.
  Clinical trials (London, England) 2013 EPGP Collaborative, Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, …
• Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
  American journal of medical genetics. Part A 2013 Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB
• Autism traits in individuals with agenesis of the corpus callosum.
  Journal of autism and developmental disorders 2013 Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ
• Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism.
  PloS one 2013 Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH
• Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
  American journal of human genetics 2013 Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr…
• Evidence for a shared genetic susceptibility to migraine and epilepsy.
  Epilepsia 2013 Winawer MR, Connors R, EPGP Investigators
• Chapter 31 Lissencephalies and Axon Guidance Disorders.
  Neural Circuit Development and Function in the Brain 2013 E.H. Sherr, L. Fernandez
• Test-retest reliability of computational network measurements derived from the structural connectome of the human brain.
  Brain connectivity 2013 Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P
• The structural connectome of the human brain in agenesis of the corpus callosum.
  NeuroImage 2012 Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P
• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
  Journal of medical genetics 2012 Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-…
• Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System.
  Neuron 2012 Qinjie Weng, Ying Chen, Haibo Wang, Xiaomei Xu, Bo Yang, Qiaojun He, Weinian Shou, Yan Chen, Yujiro Higashi, Veronique van den Berghe, Eve Seuntjens, Steven G. Kernie, Polina Bukshpun, Elliott H. …
• Children with autism show reduced somatosensory response: an MEG study.
  Autism research : official journal of the International Society for Autism Research 2012 Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS
• The role of corpus callosum development in functional connectivity and cognitive processing.
  PloS one 2012 Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH
• Detection of identity by descent using next-generation whole genome sequencing data.
  BMC bioinformatics 2012 Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E
• Epi4K: gene discovery in 4,000 genomes.
  Epilepsia 2012 Epi4K Consortium
• Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
  Neuron 2012 Simons Vip Consortium
• Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum.
  Journal of the International Neuropsychological Society : JINS 2012 Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK
• Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system.
  Neuron 2012 Weng Q, Chen Y, Wang H, Xu X, Yang B, He Q, Shou W, Chen Y, Higashi Y, van den Berghe V, Seuntjens E, Kernie SG, Bukshpun P, Sherr EH, Huylebroeck D, Lu QR
• So what? Does the test lead to improved health outcomes?
  Neurology 2012 Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E
• Chapter 23 Disorders of Forebrain Development.
  Swaiman\u0027s Pediatric Neurology 2012 Elliott H. Sherr, Jin S. Hahn
• Chapter 43 Global Developmental Delay and Mental Retardation/Intellectual Disability.
  Swaiman\u0027s Pediatric Neurology 2012 Elliott H. Sherr, Michael I. Shevell
• Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
  BMC medical genetics 2011 Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM
• VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
  Human mutation 2011 Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF
• Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
  Neurology 2011 Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S
• GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
  Neurology 2011 Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, …
• Laterality of brain and ocular lesions in Aicardi syndrome.
  Pediatric neurology 2011 Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH
• Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
  American journal of medical genetics. Part A 2011 Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH
• Clinical Reasoning: An encephalopathic 3-day-old infant.
  Neurology 2011 Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH
• Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
  Neurology 2011 Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson…
• Agenesis of the corpus callosum.
  The Causes of Epilepsy 2011 Dorothy Jones-Davis, Yolanda Lau, Elliott H. Sherr
• Identification of genomic loci contributing to agenesis of the corpus callosum.
  American journal of medical genetics. Part A 2010 O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB
• Diffusion tensor imaging of Aicardi syndrome.
  Pediatric neurology 2010 Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH
• Microstructural correlations of white matter tracts in the human brain.
  NeuroImage 2010 Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P
• Expanding CEP290 mutational spectrum in ciliopathies.
  American journal of medical genetics. Part A 2009 Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, …
• Introduction.
  Seminars in pediatric neurology 2009 Sherr EH
• ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
  BMJ case reports 2009 Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH
• Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study.
  AJNR. American journal of neuroradiology 2009 Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, Wakahiro M, Mukherjee P, Sherr EH
• Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study.
  AJNR. American journal of neuroradiology 2008 Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P
• Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.
  AJNR. American journal of neuroradiology 2008 Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA
• Agenesis of the corpus callosum in California 1983-2003: a population-based study.
  American journal of medical genetics. Part A 2008 Glass HC, Shaw GM, Ma C, Sherr EH
• The importance of metabolic testing in the evaluation of intellectual disability.
  Annals of neurology 2008 Mueller S, Sherr EH
• Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A.
  Pediatric neurology 2008 Kara S, Sherr EH, Barkovich AJ
• Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy.
  Nature clinical practice. Neurology 2008 Maccotta L, Sherr EH
• ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
  Journal of medical genetics 2007 Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH
• Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
  American journal of medical genetics. Part A 2007 Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH
• Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
  American journal of human genetics 2007 Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC
• NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
  PLoS genetics 2007 Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C…
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
  American journal of human genetics 2007 Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, …
• Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.
  Nature reviews. Neuroscience 2007 Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH
• Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations.
  AJR. American journal of roentgenology 2006 Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ
• Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
  American journal of medical genetics. Part A 2006 Slavotinek A, Li C, Sherr EH, Chudley AE
• MRI FINDINGS INFORM NEURODEVELOPMENTAL OUTCOMES IN INDIVIDUALS WITH AGENESIS OF THE CORPUS CALLOSUM (ACC): ANALYSIS OF A PROSPECTIVE COHORT.
  Neuropediatrics 2006 A Phillips, S Gobuty, S Hetts, M Shevell, A Majnemer, AJ Barkovich, E Sherr
• Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.
  Neurology 2005 Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ
• Case report: Y;6 translocation with deletion of 6p.
  Clinical dysmorphology 2005 Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A
• Marinesco-Sjögren syndrome in a male with mild dysmorphism.
  American journal of medical genetics. Part A 2005 Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E
• The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
  Current opinion in pediatrics 2003 Sherr EH
• T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.
  AJNR. American journal of neuroradiology 2003 Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S
• Periventricular heterotopia associated with chromosome 5p anomalies.
  Neurology 2003 Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH
• Mental Retardation.
  Encyclopedia of the Neurological Sciences 2003 Elliott H. Sherr, Donna M. Ferriero
• Menkes Disease Phenotypes in Heterozygotes.
  Pediatric Research 1999 D Kostiner, K Peters, S Das, L Dudlicek, S Ominsky, J Barkovich, S Chamlin, M Williams, E Sherr, N Bass, K Weisiger, S Packman
• Mapping of unconventional myosins in mouse and human.
  Genomics 1996 Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA
• Mammalian myosin I alpha, I beta, and I gamma: new widely expressed genes of the myosin I family.
  The Journal of cell biology 1993 Sherr EH, Joyce MP, Greene LA
• Failure of B cells in common variable immunodeficiency to transit from proliferation to differentiation is associated with altered B cell surface-molecule display.
  The Journal of allergy and clinical immunology 1989 Saxon A, Giorgi JV, Sherr EH, Kagan JM
• Binding the low affinity Fc epsilon R on B cells suppresses ongoing human IgE synthesis.
  Journal of immunology (Baltimore, Md. : 1950) 1989 Sherr E, Macy E, Kimata H, Gilly M, Saxon A
• Human natural killer (NK) cells produce a late-acting B-cell differentiation activity.
  Journal of clinical immunology 1988 Kimata H, Sherr EH, Saxon A
• Retinoic acid induces the differentiation of B cell hybridomas from patients with common variable immunodeficiency.
  The Journal of experimental medicine 1988 Sherr E, Adelman DC, Saxon A, Gilly M, Wall R, Sidell N
• Functional and phenotypic characterization of human B lymphocyte subsets isolated by unit gravity sedimentation.
  International archives of allergy and applied immunology 1988 Sherr EH, Saxon A, Wells JR
• IgE-enhancing activity directly and selectively affects activated B cells: evidence for a human IgE differentiation factor.
  Journal of immunology (Baltimore, Md. : 1950) 1987 Sherr EH, Stein LD, Dosch HM, Saxon A
• A mechanism for the suppression of ongoing IgE synthesis.
  International archives of allergy and applied immunology 1987 Sherr EH, Saxon A