Nadav Ahituv, PhD
Professor
Bioengineering
School of Pharmacy

The Ahituv lab is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. In addition, our lab is developing massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements and the use of gene regulatory elements as therapeutic targets or disease diagnostic markers.

Awards

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• ASCPT Leon I. Goldberg young investigator award, The American Society for Clinical Pharmacology and Therapeutics, 2014
• Ph.D. with distinction, Tel-Aviv University, 2002

Interests

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• enhancers
• limb malformations
• autism
• pharmacogenomics
• epilepsy
• noncoding DNA
• obesity
• mouse models
• comparative genomics
• Human genetics
• gene regulation
• genomics
• scoliosis
• zebrafish

Websites

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• UCSF limb malformation study (pharm.ucsf.edu)
• Ahituv Lab (pharm.ucsf.edu)

Grants and Projects

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• Massively parallel characterization of variants and elements impacting transcriptional regulation in dynamic cellular systems, NIH, 2021-2026
• From Obesity GWAS to therapeutic targets, NIH, 2020-2025
• The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with Asthma, NIH, 2013-2023
• Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell types, NIH, 2018-2023
• Pharmaceutical Sciences and Pharmacogenomics, NIH, 1982-2022
• Massively parallel reporter assays and genome editing of ENCODE predicted regulatory elements, NIH, 2017-2022
• Genetic Etiology of Abdominal Hernia Susceptibility, NIH, 2018-2021
• Technologies for simultaneous characterization of regulatory activity and protein binding, NIH, 2019-2021
• Developmental Mechanisms of Human Idiopathic Scoliosis, NIH, 2016-2021
• Massively parallel dissection of psychiatric regulatory networks, NIH, 2016-2021
• Development of massively parallel reporter assays that use cognate promoters, NIH, 2018-2020
• Identification & functional characterization of SIM1 obesity-associated variants, NIH, 2012-2016
• Characterization of neuronal gene regulatory elements associated with epilepsy, NIH, 2012-2016
• Massively parallel, in vivo functional testing of regulatory elements, NIH, 2012-2015
• Pharmacogenomics of Membrane Transporters, NIH, 2000-2015
• Characterization of regulatory elements leading to human limb malformations, NIH, 2009-2015
• Computational & Functional Annotation of the Zebrafish Genome Regulatory Toolbox, NIH, 2009-2014

Publications (166)

Top publication keywords:
ForelimbSyndactylyExonsLimb Deformities, CongenitalRegulatory Elements, TranscriptionalGene Expression Regulation, DevelopmentalTranscription FactorsEnhancer Elements, GeneticGene Expression RegulationPromoter Regions, GeneticChiropteraRegulatory Sequences, Nucleic AcidHand Deformities, CongenitalGenome, HumanSequence Analysis, DNA

• Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
  Cell reports 2024 Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N
• Author Correction: Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.
  Nature metabolism 2024 Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N
• Optimizing sequence design strategies for perturbation MPRAs: a computational evaluation framework.
  Nucleic acids research 2024 Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A
• Author Correction: Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas.
  Nature communications 2024 Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N
• Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD.
  Neuron 2024 Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ

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• Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids.
  Scientific reports 2024 Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, Ahituv N, Abyzov A, Vaccarino FM
• Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
  eLife 2024 Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin…
• Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
  eLife 2024 Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng RR, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, …
• Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
  Nature genetics 2024 Feng Y, Xie N, Inoue F, Fan S, Saskin J, Zhang C, Zhang F, Hansen MEB, Nyambo T, Mpoloka SW, Mokone GG, Fokunang C, Belay G, Njamnshi AK, Marks MS, Oancea E, Ahituv N, Tishkoff SA
• Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas.
  Nature communications 2024 Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N
• TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function.
  Nature communications 2023 Okhovat M, VanCampen J, Nevonen KA, Harshman L, Li W, Layman CE, Ward S, Herrera J, Wells J, Sheng RR, Mao Y, Ndjamen B, Lima AC, Vigh-Conrad KA, Stendahl AM, Yang R, Fedorov L, Matthews IR, Easow SA,…
• Author Correction: Chromatin compartmentalization regulates the response to DNA damage.
  Nature 2023 Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G
• Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
  bioRxiv : the preprint server for biology 2023 Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, …
• MPRAbase: A Massively Parallel Reporter Assay Database.
  bioRxiv : the preprint server for biology 2023 Zhao J, Baltoumas FA, Konnaris MA, Mouratidis I, Liu Z, Sims J, Agarwal V, Pavlopoulos GA, Georgakopoulos-Soares I, Ahituv N
• Chromatin compartmentalization regulates the response to DNA damage.
  Nature 2023 Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G
• Best practices for perturbation MPRA-a computational evaluation framework of sequence design strategies.
  bioRxiv : the preprint server for biology 2023 Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A
• Milk antibody response after 3rd COVID-19 vaccine and SARS-CoV-2 infection and implications for infant protection.
  iScience 2023 Golan Y, Ilala M, Li L, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Matsui Y, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M
• Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids.
  bioRxiv : the preprint server for biology 2023 Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, PsychENCODE Consortium, Ahituv N, Abyzov A, Vaccarino FM
• Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD.
  bioRxiv : the preprint server for biology 2023 Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ
• Three-dimensional genome rewiring in loci with human accelerated regions.
  Science (New York, N.Y.) 2023 Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E, Zoonomia Consortium§, Nowakowski T, Ahituv N, Pollen A, Pollard KS
• Quasi-prime peptides: identification of the shortest peptide sequences unique to a species.
  NAR genomics and bioinformatics 2023 Mouratidis I, Chan CSY, Chantzi N, Tsiatsianis GC, Hemberg M, Ahituv N, Georgakopoulos-Soares I
• Transcription factor binding site orientation and order are major drivers of gene regulatory activity.
  Nature communications 2023 Georgakopoulos-Soares I, Deng C, Agarwal V, Chan CSY, Zhao J, Inoue F, Ahituv N
• Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
  bioRxiv : the preprint server for biology 2023 Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N
• Abstract 991: Leveraging sequences missing from the human genome to detect cancer.
  Cancer Research 2023 Ofer Yizhar Barnea, Ilias Georgakopoulos-Soares, Nadav Ahituv, Jocelyn Chapman, Martin Hemberg, Ioannis Mouratidis, Konstantinos Syrigos, Nikolaos Syrigos, Ioannis Vathiotis, Mayank Mahajan, Emmanouil…
• Implantation of engineered adipocytes that outcompete tumors for resources suppresses cancer progression.
  bioRxiv : the preprint server for biology 2023 Nguyen HP, Sheng R, Murray E, Ito Y, Bruck M, Biellak C, An K, Lynce F, Dillon DA, Magbanua MJM, Huppert LA, Hammerlindl H, Esserman L, Rosenbluth JM, Ahituv N
• Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.
  bioRxiv : the preprint server for biology 2023 Chardon FM, McDiarmid TA, Page NF, Martin B, Domcke S, Regalado SG, Lalanne JÆ, Calderon D, Starita LM, Sanders SJ, Ahituv N, Shendure J
• TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function.
  bioRxiv : the preprint server for biology 2023 Okhovat M, VanCampen J, Lima AC, Nevonen KA, Layman CE, Ward S, Herrera J, Stendahl AM, Yang R, Harshman L, Li W, Sheng RR, Mao Y, Fedorov L, Ndjamen B, Vigh-Conrad KA, Matthews IR, Easow SA, Chan DK,…
• Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types.
  bioRxiv : the preprint server for biology 2023 Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N
• Genetic regulation of cell-type specific chromatin accessibility shapes the etiology of brain diseases.
  bioRxiv : the preprint server for biology 2023 Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P
• Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex.
  bioRxiv : the preprint server for biology 2023 Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, Pollen A, Nowakowski TJ, Ahituv N, Pollard KS
• Integrative single-cell characterization of frugivory adaptations in the bat kidney and pancreas.
  bioRxiv : the preprint server for biology 2023 Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N
• Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.
  International journal of molecular sciences 2023 Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A
• Risk scoring based on DNA methylation-driven related DEGs for colorectal cancer prognosis with systematic insights.
  Life sciences 2023 Liu Z, Georgakopoulos-Soares I, Ahituv N, Wong KC
• Machine learning dissection of human accelerated regions in primate neurodevelopment.
  Neuron 2023 Whalen S, Inoue F, Ryu H, Fair T, Markenscoff-Papadimitriou E, Keough K, Kircher M, Martin B, Alvarado B, Elor O, Laboy Cintron D, Williams A, Hassan Samee MA, Thomas S, Krencik R, Ullian EM, …
• Milk antibody response after 3rd dose of COVID-19 mRNA vaccine and SARS-CoV-2 breakthrough infection and implications for infant protection.
  medRxiv : the preprint server for health sciences 2022 Golan Y, Ilala M, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Li L, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M
• Genomic characterization and therapeutic utilization of IL-13-responsive sequences in asthma.
  Cell genomics 2022 Koh KD, Bonser LR, Eckalbar WL, Yizhar-Barnea O, Shen J, Zeng X, Hargett KL, Sun DI, Zlock LT, Finkbeiner WE, Ahituv N, Erle DJ
• Author Correction: High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation.
  Genome biology 2022 Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M
• High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation.
  Genome biology 2022 Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M
• Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.
  Human molecular genetics 2022 Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P, 23 and Me Research Team, Mostaedi R, Tian C, Ahituv N, Jorgenson E
• Cellular and transcriptional diversity over the course of human lactation.
  Proceedings of the National Academy of Sciences of the United States of America 2022 Nyquist SK, Gao P, Haining TKJ, Retchin MR, Golan Y, Drake RS, Kolb K, Mead BE, Ahituv N, Martinez ME, Shalek AK, Berger B, Goods BA
• Massively parallel reporter perturbation assays uncover temporal regulatory architecture during neural differentiation.
  Nature communications 2022 Kreimer A, Ashuach T, Inoue F, Khodaverdian A, Deng C, Yosef N, Ahituv N
• High-throughput characterization of the role of non-B DNA motifs on promoter function.
  Cell genomics 2022 Georgakopoulos-Soares I, Victorino J, Parada GE, Agarwal V, Zhao J, Wong HY, Umar MI, Elor O, Muhwezi A, An JY, Sanders SJ, Kwok CK, Inoue F, Hemberg M, Ahituv N
• COVID-19 mRNA Vaccination in Lactation: Assessment of Adverse Events and Vaccine Related Antibodies in Mother-Infant Dyads.
  Frontiers in immunology 2021 Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Chidboy MA, Warrier L, Buarpung S, Li L, Murtha AP, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL
• Oestrogen engages brain MC4R signalling to drive physical activity in female mice.
  Nature 2021 Krause WC, Rodriguez R, Gegenhuber B, Matharu N, Rodriguez AN, Padilla-Roger AM, Toma K, Herber CB, Correa SM, Duan X, Ahituv N, Tollkuhn J, Ingraham HA
• Single-cell epigenomics reveals mechanisms of human cortical development.
  Nature 2021 Ziffra RS, Kim CN, Ross JM, Wilfert A, Turner TN, Haeussler M, Casella AM, Przytycki PF, Keough KC, Shin D, Bogdanoff D, Kreimer A, Pollard KS, Ament SA, Eichler EE, Ahituv N, Nowakowski TJ
• Evaluation of Messenger RNA From COVID-19 BTN162b2 and mRNA-1273 Vaccines in Human Milk.
  JAMA pediatrics 2021 Golan Y, Prahl M, Cassidy A, Lin CY, Ahituv N, Flaherman VJ, Gaw SL
• COVID-19 mRNA Vaccination in Lactation: Assessment of adverse events and vaccine related antibodies in mother-infant dyads.
  medRxiv : the preprint server for health sciences 2021 Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Warrier L, Buarpung S, Li L, Murtha AP, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL
• Absent from DNA and protein: genomic characterization of nullomers and nullpeptides across functional categories and evolution.
  Genome biology 2021 Georgakopoulos-Soares I, Yizhar-Barnea O, Mouratidis I, Hemberg M, Ahituv N
• Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.
  Nature protocols 2021 Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N
• The cis-regulatory effects of modern human-specific variants.
  eLife 2021 Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D
• Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.
  Nature communications 2021 Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Shen Y, Lettice LA, Silveira-Lucas EL…
• Publisher Correction: Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
  Nature genetics 2021 Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB
• Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
  Nature genetics 2021 Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB
• Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.
  Human molecular genetics 2021 Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N
• Asymmetron: a toolkit for the identification of strand asymmetry patterns in biological sequences.
  Nucleic acids research 2021 Georgakopoulos-Soares I, Mouratidis I, Parada GE, Matharu N, Hemberg M, Ahituv N
• A systematic evaluation of the design and context dependencies of massively parallel reporter assays.
  Nature methods 2020 Klein JC, Agarwal V, Inoue F, Keith A, Martin B, Kircher M, Ahituv N, Shendure J
• Modulating gene regulation to treat genetic disorders.
  Nature reviews. Drug discovery 2020 Matharu N, Ahituv N
• Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome.
  Proceedings of the National Academy of Sciences of the United States of America 2020 Okhovat M, Nevonen KA, Davis BA, Michener P, Ward S, Milhaven M, Harshman L, Sohota A, Fernandes JD, Salama SR, O'Neill RJ, Ahituv N, Veeramah KR, Carbone L
• lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.
  Nature protocols 2020 Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N
• Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of GDF15.
  Pharmacogenomics 2020 Linhares ND, Pereira DA, Conceição IM, Franco GR, Eckalbar WL, Ahituv N, Luizon MR
• The cartilage matrisome in adolescent idiopathic scoliosis.
  Bone research 2020 Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L
• Characterization of functional transposable element enhancers in acute myeloid leukemia.
  Science China. Life sciences 2020 Zeng Y, Cao Y, Halevy RS, Nguyen P, Liu D, Zhang X, Ahituv N, Han JJ
• Comparative Genomic Characterization of the Multimammate Mouse Mastomys coucha.
  Molecular biology and evolution 2019 Hardin A, Nevonen KA, Eckalbar WL, Carbone L, Ahituv N
• Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice.
  PLoS genetics 2019 Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS
• Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction.
  Cell stem cell 2019 Inoue F, Kreimer A, Ashuach T, Ahituv N, Yosef N
• CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
  2019 Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N
• MPRAnalyze: statistical framework for massively parallel reporter assays.
  Genome biology 2019 Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ, Yosef N
• A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P
• Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.
  Nature communications 2019 Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N
• Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
  Human mutation 2019 Shigaki D, Adato O, Adhikari AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DD, Schubach M, Xiong C, Yan Z, Boyle AP, Kreimer A, Kulakovskiy IV, Reid J, …
• Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types.
  Human mutation 2019 Kreimer A, Yan Z, Ahituv N, Yosef N
• Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.
  Nature metabolism 2019 Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N
• A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens.
  Cell 2019 Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J
• Reply to Liu et al.: Tissue specificity of SIM1 gene expression and erectile dysfunction.
  Proceedings of the National Academy of Sciences of the United States of America 2019 Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK
• A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens.
  Cell 2019 Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J
• Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
  Science (New York, N.Y.) 2018 An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy…
• CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
  Science (New York, N.Y.) 2018 Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N
• Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
  Human molecular genetics 2018 Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, …
• A multidisciplinary review of triphalangeal thumb.
  The Journal of hand surgery, European volume 2018 Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
• Genetic variation in the SIM1 locus is associated with erectile dysfunction.
  Proceedings of the National Academy of Sciences of the United States of America 2018 Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK
• Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.
  American journal of respiratory and critical care medicine 2018 Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton…
• Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.
  Genome research 2018 Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J
• Functional Characterization of Gene Regulatory Elements.
  The FASEB Journal 2018 Nadav Ahituv
• Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
  Human mutation 2018 Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N
• A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A
• Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity.
  Drug metabolism and disposition: the biological fate of chemicals 2018 Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL
• ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression.
  Pharmacogenetics and genomics 2017 Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL
• CRISPR-Cas9-mediated functional dissection of 3'-UTRs.
  Nucleic acids research 2017 Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ
• Variant Interpretation: Functional Assays to the Rescue.
  American journal of human genetics 2017 Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM
• Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation.
  Scientific reports 2017 Ryu AH, Eckalbar WL, Kreimer A, Yosef N, Ahituv N
• Gene Regulatory Elements, Major Drivers of Human Disease.
  Annual review of genomics and human genetics 2017 Chatterjee S, Ahituv N
• Limb development: a paradigm of gene regulation.
  Nature reviews. Genetics 2017 Petit F, Sears KE, Ahituv N
• Genomic Characterization of Metformin Hepatic Response.
  PLoS genetics 2016 Luizon MR, Eckalbar WL, Wang Y, Jones SL, Smith RP, Laurance M, Lin L, Gallins PJ, Etheridge AS, Wright F, Zhou Y, Molony C, Innocenti F, Yee SW, Giacomini KM, Ahituv N
• In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus.
  Drug metabolism and disposition: the biological fate of chemicals 2016 Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL
• A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.
  Genome research 2016 Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J
• Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus.
  PLoS genetics 2016 Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N
• Transcriptomic and epigenomic characterization of the developing bat wing.
  Nature genetics 2016 Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, …
• Exonic enhancers: proceed with caution in exome and genome sequencing studies.
  Genome medicine 2016 Ahituv N
• Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.
  Molecular psychiatry 2016 Belinson H, Nakatani J, Babineau BA, Birnbaum RY, Ellegood J, Bershteyn M, McEvilly RJ, Long JM, Willert K, Klein OD, Ahituv N, Lerch JP, Rosenfeld MG, Wynshaw-Boris A
• A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
  Nature communications 2015 Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A
• Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease.
  PLoS genetics 2015 Matharu N, Ahituv N
• The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration.
  eLife 2015 Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH
• Uncovering drug-responsive regulatory elements.
  Pharmacogenomics 2015 Luizon MR, Ahituv N
• Functionally conserved enhancers with divergent sequences in distant vertebrates.
  BMC genomics 2015 Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D
• Identification of novel Fgf enhancers and their role in dental evolution.
  Evolution & development 2015 Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD
• Decoding enhancers using massively parallel reporter assays.
  Genomics 2015 Inoue F, Ahituv N
• A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.
  Nature communications 2015 Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R, TSRHC Scoliosis Clinical Group, Japan Scoliosis Clinical Research Group, …
• Enhancer interaction networks as a means for singular olfactory receptor expression.
  Cell 2014 Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S
• Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.
  PLoS genetics 2014 Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N
• Genome-wide discovery of drug-dependent human liver regulatory elements.
  PLoS genetics 2014 Smith RP, Eckalbar WL, Morrissey KM, Luizon MR, Hoffmann TJ, Sun X, Jones SL, Force Aldred S, Ramamoorthy A, Desta Z, Liu Y, Skaar TC, Trinklein ND, Giacomini KM, Ahituv N
• Genome-wide identification of signaling center enhancers in the developing limb.
  Development (Cambridge, England) 2014 VanderMeer JE, Smith RP, Jones SL, Ahituv N
• Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.
  Translational psychiatry 2014 Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N
• Integrating diverse datasets improves developmental enhancer prediction.
  PLoS computational biology 2014 Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA
• A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
  Human mutation 2014 VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N
• Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
  Molecular genetics & genomic medicine 2014 Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, …
• Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.
  PloS one 2014 Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C
• Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations.
  Nature 2013 Zhang Y, Wong CH, Birnbaum RY, Li G, Favaro R, Ngan CY, Lim J, Tai E, Poh HM, Wong E, Mulawadi FH, Sung WK, Nicolis S, Ahituv N, Ruan Y, Wei CL
• Functional characterization of SIM1-associated enhancers.
  Human molecular genetics 2013 Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N
• Functional analysis of limb enhancers in the developing fin.
  Development genes and evolution 2013 Booker BM, Murphy KK, Ahituv N
• Classification of topological domains based on gene expression and regulation.
  Genome 2013 Zhao J, Shi H, Ahituv N
• The role of AUTS2 in neurodevelopment and human evolution.
  Trends in genetics : TIG 2013 Oksenberg N, Ahituv N
• Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model.
  Nature genetics 2013 Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N
• A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design.
  Genome biology 2013 Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N
• Function and regulation of AUTS2, a gene implicated in autism and human evolution.
  PLoS genetics 2013 Oksenberg N, Stevison L, Wall JD, Ahituv N
• Sequence signatures extracted from proximal promoters can be used to predict distal enhancers.
  Genome biology 2013 Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I
• The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers.
  Methods in molecular biology (Clifton, N.J.) 2013 Kim MJ, Ahituv N
• Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.
  Nature 2012 Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME, Mickelson JR, Cothran G, Ahituv N, Roepstorff L, Mikko S…
• Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
  Human molecular genetics 2012 Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N
• Human developmental enhancers conserved between deuterostomes and protostomes.
  PLoS genetics 2012 Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G
• A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
  American journal of medical genetics. Part A 2012 VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S
• Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
  American journal of medical genetics. Part A 2012 Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT
• Pharmacogene regulatory elements: from discovery to applications.
  Genome medicine 2012 Smith RP, Lam ET, Markova S, Yee SW, Ahituv N
• A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
  Human mutation 2012 Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A
• Coding exons function as tissue-specific enhancers of nearby genes.
  Genome research 2012 Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N
• Massively parallel functional dissection of mammalian enhancers in vivo.
  Nature biotechnology 2012 Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J
• Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations.
  Gene Regulatory Sequences and Human Disease 2012 Julia E. VanderMeer, Nadav Ahituv
• Gene Regulatory Elements.
  Gene Regulatory Sequences and Human Disease 2012 Nadav Ahituv
• Location, location, cis-mutation.
  Human mutation 2011 Ahituv N
• Functional characterization of liver enhancers that regulate drug-associated transporters.
  Clinical pharmacology and therapeutics 2011 Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N
• cis-regulatory mutations are a genetic cause of human limb malformations.
  Developmental dynamics : an official publication of the American Association of Anatomists 2011 VanderMeer JE, Ahituv N
• Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.
  Pharmacogenetics and genomics 2009 Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM
• Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
  Pharmacogenomics 2009 Kroetz DL, Ahituv N, Burchard EG, Guo S, Sali A, Giacomini KM
• Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).
  The Journal of pharmacology and experimental therapeutics 2008 Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM
• Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
  Human molecular genetics 2008 Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C
• Introduction to Computational Genomics: A Case Studies Approach Nello Cristianini and Matthew W. Hahn.
  Briefings in Bioinformatics 2008 Nadav Ahituv
• A new mouse mutant for the LDL receptor identified using ENU mutagenesis.
  Journal of lipid research 2008 Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL
• Alternative approach to a heavy weight problem.
  Genome research 2007 Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G
• In vivo characterization of human APOA5 haplotypes.
  Genomics 2007 Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA
• Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.
  PloS one 2007 Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME
• Deletion of ultraconserved elements yields viable mice.
  PLoS biology 2007 Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM
• Medical sequencing at the extremes of human body mass.
  American journal of human genetics 2007 Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, …
• In vivo enhancer analysis of human conserved non-coding sequences.
  Nature 2006 Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A…
• A distal enhancer and an ultraconserved exon are derived from a novel retroposon.
  Nature 2006 Bejerano G, Lowe CB, Ahituv N, King B, Siepel A, Salama SR, Rubin EM, Kent WJ, Haussler D
• A PYY Q62P variant linked to human obesity.
  Human molecular genetics 2005 Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R
• Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.
  Human molecular genetics 2005 Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O
• Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene.
  Mammalian genome : official journal of the International Mammalian Genome Society 2005 Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, Rubin EM, Pennacchio LA
• Exploiting human--fish genome comparisons for deciphering gene regulation.
  Human molecular genetics 2004 Ahituv N, Rubin EM, Nobrega MA
• An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.
  Mammalian genome : official journal of the International Mammalian Genome Society 2004 Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP
• Myosin VI.
  Genetic Hearing Loss 2003 Nadav Ahituv, Orit Ben-David, Paolo Gasparini, Karen Avraham
• Mouse models for human deafness: current tools for new fashions.
  Trends in molecular medicine 2002 Ahituv N, Avraham KB
• MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
  American journal of human genetics 2001 Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P
• The Notch ligand Jagged1 is required for inner ear sensory development.
  Proceedings of the National Academy of Sciences of the United States of America 2001 Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M
• Genomic structure of the human unconventional myosin VI gene.
  Gene 2000 Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB
• Auditory and vestibular mouse mutants: models for human deafness.
  Journal of basic and clinical physiology and pharmacology 2000 Ahituv N, Avraham KB
• Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.
  Science (New York, N.Y.) 1998 Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB
• Devising a cooperation policy for emergency networks.
  The Journal of the Operational Research Society 1987 Ahituv N, Berman O