Nadav Ahituv, PhD

Professor
Department of Bioengineering and Therapeutic Sciences
[email protected]
+1 415 476-1838

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. It develops and uses massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, the lab pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

Research Summary: 
Gene regulation and human disease
Mentorship Development: 

4/2019 - Acknowledging and Negotiating the Mentee-Mentor Tensions Inherent in the Research Lab
4/2019 - Sharpening your Mentoring Skills (SyMS) with Sharon Milgram
6/2020 - Your Role in Workplace Diversity
10/2020 - DEI Champion Training
2/2021 - Three Truths & Three Tries: Facing & Overcoming Critical Social Justice Challenges at the Micro, Mezzo & Macro Levels

Websites

Publications: 

Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity.

Nature communications

Kosicki M, Laboy Cintrón D, Keukeleire P, Schubach M, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Kircher M, Pennacchio LA, Ahituv N

Massively parallel jumping assay decodes Alu retrotransposition activity.

Nature communications

Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, An K, Sims J, Rattanasopha S, Meyer TJ, Carbone L, Kircher M, Ahituv N

Functional characterization of OXTR-associated enhancers.

Human molecular genetics

Laboy Cintrón D, Sheng RR, Ahituv N

MPRAbase a Massively Parallel Reporter Assay database.

Genome research

Zhao J, Baltoumas FA, Konnaris MA, Mouratidis I, Liu Z, Sims J, Agarwal V, Pavlopoulos GA, Georgakopoulos-Soares I, Ahituv N

Deletion of an evolutionarily conserved TAD boundary impacts spermatogenesis in mice†.

Biology of reproduction

Lima AC, Okhovat M, Stendahl AM, Yang R, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L

Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four abdominal hernia subtypes.

HGG advances

Chaar DL, Jiang C, Cowan B, Patel S, Kvale M, Yin J, Mostaedi R, Ahituv N, Jorgenson E, Hoffmann TJ, Choquet H

2024 ASHG Scientific Achievement Award.

American journal of human genetics

Ahituv N

Gene therapies for neurogenetic disorders.

Trends in molecular medicine

Devinsky O, Coller J, Ahrens-Nicklas R, Liu XS, Ahituv N, Davidson BL, Bishop KM, Weiss Y, Mingorance A

Implantation of engineered adipocytes suppresses tumor progression in cancer models.

Nature biotechnology

Nguyen HP, An K, Ito Y, Kharbikar BN, Sheng R, Paredes B, Murray E, Pham K, Bruck M, Zhou X, Biellak C, Ushiki A, Nobuhara M, Fong SL, Bernards DA, Lynce F, Dillon DA, Magbanua MJM, Huppert LA, Hammerlindl H, Klein JA, Valdiviez L, Fiehn O, Esserman L, Desai TA, Yee SW, Rosenbluth JM, Ahituv N

Massively parallel characterization of transcriptional regulatory elements.

Nature

Agarwal V, Inoue F, Schubach M, Penzar D, Martin BK, Dash PM, Keukeleire P, Zhang Z, Sohota A, Zhao J, Georgakopoulos-Soares I, Noble WS, Yardimci GG, Kulakovskiy IV, Kircher M, Shendure J, Ahituv N

The topography of nullomer-emerging mutations and their relevance to human disease.

Computational and structural biotechnology journal

Chan CSY, Mouratidis I, Montgomery A, Tsiatsianis GC, Chantzi N, Hemberg M, Ahituv N, Georgakopoulos-Soares I

Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.

Nature communications

Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin BK, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J

Deletion of an evolutionarily conserved TAD boundary compromises spermatogenesis in mice.

bioRxiv : the preprint server for biology

Lima AC, Okhovat M, Stendahl AM, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Yang R, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L

Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology.

Science (New York, N.Y.)

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 regulatory elements in the developing human cortex.

Science (New York, N.Y.)

Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, PsychENCODE Consortium‡, Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS, PsychENCODE Consortium

Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation.

bioRxiv : the preprint server for biology

DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A

Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.

bioRxiv : the preprint server for biology

Chardon FM, McDiarmid TA, Page NF, Martin B, Domcke S, Regalado SG, Lalanne J?, Calderon D, Starita LM, Sanders SJ, Ahituv N, Shendure J

Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity.

bioRxiv : the preprint server for biology

Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N

Massively parallel jumping assay decodes Alu retrotransposition activity.

bioRxiv : the preprint server for biology

Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.

Cell reports

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

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

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

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

Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ

Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids.

Scientific reports

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

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, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

eLife

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, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA

Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.

Nature genetics

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

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

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, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L

Author Correction: Chromatin compartmentalization regulates the response to DNA damage.

Nature

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 an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis.

bioRxiv : the preprint server for biology

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, Yin Cheung JP, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA

MPRAbase: A Massively Parallel Reporter Assay Database.

bioRxiv : the preprint server for biology

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

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

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

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

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

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.)

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, Andrews G, Armstrong JC, Bianchi M, Birren BW, Bredemeyer KR, Breit AM, Christmas MJ, Clawson H, Damas J, Di Palma F, Diekhans M, Dong MX, Eizirik E, Fan K, Fanter C, Foley NM, Forsberg-Nilsson K, Garcia CJ, Gatesy J, Gazal S, Genereux DP, Goodman L, Grimshaw J, Halsey MK, Harris AJ, Hickey G, Hiller M, Hindle AG, Hubley RM, Hughes GM, Johnson J, Juan D, Kaplow IM, Karlsson EK, Keough KC, Kirilenko B, Koepfli KP, Korstian JM, Kowalczyk A, Kozyrev SV, Lawler AJ, Lawless C, Lehmann T, Levesque DL, Lewin HA, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu VD, Marques-Bonet T, Mason VC, Meadows JRS, Meyer WK, Moore JE, Moreira LR, Moreno-Santillan DD, Morrill KM, Muntan? G, Murphy WJ, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat NS, Pfenning AR, Phan BN, Pollard KS, Pratt HE, Ray DA, Reilly SK, Rosen JR, Ruf I, Ryan L, Ryder OA, Sabeti PC, Sch?ffer DE, Serres A, Shapiro B, Smit AFA, Springer M, Srinivasan C, Steiner C, Storer JM, Sullivan KAM, Sullivan PF, Sundstr?m E, Supple MA, Swofford R, Talbot JE, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder AP, Wirthlin ME, Xue JR, Zhang X

Quasi-prime peptides: identification of the shortest peptide sequences unique to a species.

NAR genomics and bioinformatics

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

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

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

Ofer Yizhar Barnea, Ilias Georgakopoulos-Soares, Nadav Ahituv, Jocelyn Chapman, Martin Hemberg, Ioannis Mouratidis, Konstantinos Syrigos, Nikolaos Syrigos, Ioannis Vathiotis, Mayank Mahajan, Emmanouil Panagiotou, Andriani Charpidou, Mark Kvale, Candace S. Chan, Ryder Easterlin

Implantation of engineered adipocytes that outcompete tumors for resources suppresses cancer progression.

bioRxiv : the preprint server for biology

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

TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function.

bioRxiv : the preprint server for biology

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, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L

Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types.

bioRxiv : the preprint server for biology

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

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

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

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

Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A

Machine learning dissection of human accelerated regions in primate neurodevelopment.

Neuron

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, Kriegstein A, Rubenstein JL, Shendure J, Pollen AA, Ahituv N, Pollard KS

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

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

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

Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

Human molecular genetics

Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P, 23andMe 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

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

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

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

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

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

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

Golan Y, Prahl M, Cassidy A, Lin CY, Ahituv N, Flaherman VJ, Gaw SL

COVID-19 mRNA Vaccination in Lactation: Assessment of adverse effects and transfer of anti-SARS-CoV2 antibodies from mother to child.

medRxiv : the preprint server for health sciences

Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Warrier L, Buarpung S, Li L, 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

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

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

Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.

Nature communications

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, Petit F, Ahituv N

Publisher Correction: Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.

Nature genetics

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

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

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

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

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

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

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

Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulous-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

Linhares ND, Pereira DA, Conceição IM, Franco GR, Eckalbar WL, Ahituv N, Luizon MR

The cartilage matrisome in adolescent idiopathic scoliosis.

Bone research

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

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

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

Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

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

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

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

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

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, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, Beer MA

Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.

Nature metabolism

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

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

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

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.)

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 S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

Science (New York, N.Y.)

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

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, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA

A multidisciplinary review of triphalangeal thumb.

The Journal of hand surgery, European volume

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

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

Mak AC, 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 TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Genome research

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J

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

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

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

Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL

CRISPR-Cas9-mediated functional dissection of 3'-UTRs.

Nucleic acids research

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

Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM

Gene Regulatory Elements, Major Drivers of Human Disease.

Annual review of genomics and human genetics

Chatterjee S, Ahituv N

Limb development: a paradigm of gene regulation.

Nature reviews. Genetics

Petit F, Sears KE, Ahituv N

Genomic Characterization of Metformin Hepatic Response.

PLoS genetics

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

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

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

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

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, Ahituv N

Prenatal ß-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.

Molecular psychiatry

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

Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A

Uncovering drug-responsive regulatory elements.

Pharmacogenomics

Luizon MR, Ahituv N

Functionally conserved enhancers with divergent sequences in distant vertebrates.

BMC genomics

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

Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Nature communications

Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R

Enhancer interaction networks as a means for singular olfactory receptor expression.

Cell

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

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

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)

VanderMeer JE, Smith RP, Jones SL, Ahituv N

Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

Translational psychiatry

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

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

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

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, Nordgren A

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.

PloS one

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

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

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N

Functional analysis of limb enhancers in the developing fin.

Development genes and evolution

Booker BM, Murphy KK, Ahituv N

The role of AUTS2 in neurodevelopment and human evolution.

Trends in genetics : TIG

Oksenberg N, Ahituv N

Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model.

Nature genetics

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

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

Oksenberg N, Stevison L, Wall JD, Ahituv N

Sequence signatures extracted from proximal promoters can be used to predict distal enhancers.

Genome biology

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.)

Kim MJ, Ahituv N

Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.

Nature

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, Vallstedt A, Lindgren G, Andersson L, Kullander K

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Human molecular genetics

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N

Human developmental enhancers conserved between deuterostomes and protostomes.

PLoS genetics

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

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

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

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

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

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

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

Julia E. VanderMeer, Nadav Ahituv

Gene Regulatory Elements.

Gene Regulatory Sequences and Human Disease

Nadav Ahituv

Location, location, cis-mutation.

Human mutation

Ahituv N

Functional characterization of liver enhancers that regulate drug-associated transporters.

Clinical pharmacology and therapeutics

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

VanderMeer JE, Ahituv N

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.

Pharmacogenetics and genomics

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

Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).

The Journal of pharmacology and experimental therapeutics

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

Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C

A new mouse mutant for the LDL receptor identified using ENU mutagenesis.

Journal of lipid research

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

Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G

In vivo characterization of human APOA5 haplotypes.

Genomics

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

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

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

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, Pennacchio LA

In vivo enhancer analysis of human conserved non-coding sequences.

Nature

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, Rubin EM

A distal enhancer and an ultraconserved exon are derived from a novel retroposon.

Nature

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

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

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

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

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

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

Nadav Ahituv, Orit Ben-David, Paolo Gasparini, Karen Avraham

Mouse models for human deafness: current tools for new fashions.

Trends in molecular medicine

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

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

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

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

Ahituv N, Avraham KB

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Science (New York, N.Y.)

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

Ahituv N, Berman O