Research Publications

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, PhD, FACMG, Andrea M. Oza, MS, CGC, Ignacio del Castillo, PhD, Hatice Duzkale, MD, PhD, Tatsuo Matsunaga, MD, PhD, Arti Pandya, MD, Hyunseok P. Kang, MD, Rebecca Mar-Heyming, PhD, Saurav Guha, PhD, FACMG, Krista Moyer, MS, CGC, Christine Lo, MS, Margaret Kenna, MD, John J. Alexander, PhD, FACMG, Yan Zhang, MD, Yoel Hirsch, BS, Minjie Luo, PhD, FACMG, Ye Cao, PhD, Kwong Wai Choy, PhD, Yen-Fu Cheng, MD, PhD, Karen B. Avraham, PhD, Xinhua Hu, PhD, Gema Garrido, BS, Miguel A. Moreno-Pelayo, PhD, John Greinwald, MD, Kejian Zhang, MD, FACMG, Yukun Zeng, MD, Zippora Brownstein, PhD, Lina Basel-Salmon, MD, PhD, Bella Davidov, MS, Moshe Frydman, MD, Tzvi Weiden, BS, Narasimhan Nagan, PhD, FACMG, Alecia Willis, PhD, FACMG, Sarah E. Hemphill, BS, Andrew R. Grant, BS, Rebecca K. Siegert, BS, Marina T. DiStefano, PhD, Sami S. Amr, PhD, FACMG, Heidi L. Rehm, PhD, FACMG, and Ahmad N. Abou Tayoun, PhD, FACMG

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

The natural history of OTOF‑related auditory neuropathy spectrum disorders: a multicenter study

Ryan K. Thorpe · Hela Azaiez · Peina Wu · Qiuju Wang · Lei Xu · Pu Dai · Tao Yang · G. Bradley Schaefer · B. Robert Peters · Kenny H. Chan · Krista S. Schatz · Joann Bodurtha · Nathaniel H. Robin · Yoel Hirsch · Zuhair Abdalla Rahbeeni · Huijun Yuan · Richard J. H. Smith

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes

John (Pei-Wen) Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, and Yoel Hirsch

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

Akemi J. Tanaka, Kanji Okumoto, Shigehiko Tamura, Yuichi Abe, Yoel Hirsch, Liyong Deng, Joseph Ekstein, Wendy K. Chung, and Yukio Fujiki

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

A.M. Fedick, L. Shic, C. Jalas, N.R. Treff, J. Ekstein, R. Kornreich, L. Edelmann, L. Mehta, and S.A. Savage

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Yoel Hirsch, David A. Zeevi, Byron L. Lam, Sholem Y. Scher, Rachel Bringer, Bitya Cherki, Cadina C. Cohen, Hagit Muallem, John (Pei-Wen) Chiang, Madhulatha Pantrangi, Josef Ekstein, and Martin M. Johansson

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, and Heather C. Mefford,

Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

Edwin M. Stone, Xunda Luo, Elise He´on, Byron L. Lam, Richard G. Weleber, Jennifer A. Halder, Louisa M. Affatigato, Jacqueline B. Goldberg, Alexander Sumaroka, Sharon B. Schwartz, Artur V. Cideciyan, and Samuel G. Jacobson

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen

Tay-Sachs Screening in the Jewish Ashkenazi Population: DNA Testing Is the Preferred Procedure

Gideon Bach, Jerzy Tomczak, Neil Risch, and Josef Ekstein

Further Delineation of the Clinical and Pathologic Features of HIKESHIRelated Hypomyelinating Leukodystrophy

Guy Helman, BS, Ayelet Zerem, MD, Akshata Almad, PhD, Julia L. Hacker, MS, Sarah Woidill, BS, Sunetra Sase, PhD, Alexandra N. LeFevre, MS, PA (ASCP), Josef Ekstein, Martin M. Johansson, PhD, Chloe A. Stutterd, BMBS, Ryan J. Taft, PhD, Cas Simons, PhD, Judith B. Grinspan, PhD, Amy Pizzino, MS, CGC, Johanna L. Schmidt, MGC, MPH, Brian Harding, DPhil, BMBCh , Yoel Hirsch, BS, Angela N. Viaene, MD, PhD, Aviva Fattal-Valevski, MD, Adeline Vanderver, MD

Early Clinical Heterogeneity in Choreoacanthocytosis

Alexander Lassos, MD; Carol Dobson-Stone, DPhil; Anthony P. Monaco, MD; Dov Soffer, MD; Ezra Rahamim, PhD; J. P. Newman, PhD; Saidi Mohiddin, PhD; Lameh Fananapazir, MD; Israela Lerer, PhD; Eduard Linetshy, MD; Avinoam Reches, M.D; Zohar Argov, MD; Oded Abramshy, MD, PhD; Natan Gacloth, MD; Menachem Sadeh, MD; john M, Gomori, MD; Moshe Boher, MD; Vardiella Meiner, MD

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes

John (Pei-Wen) Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, and Yoel Hirsch

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population

Chaim Jalas, Sylvia L. Anderson, Tova Laufer, Kristina Martimucci, Alex Bulanov, Xie Xie, Josef Ekstein, Berish Y. Rubin

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Lynn M. Boyden, Lihi Atzmony, Claire Hamilton, Jing Zhou, Young H. Lim, Ronghua Hu, John Pappas, Rachel Rabin, Joseph Ekstien, Yoel Hirsch, Julie Prendiville, Richard P. Lifton, Shawn Ferguson, and Keith A. Choate

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Lilach Benyamini, Orit Reish, Tzipora Falik-Zaccai , Gali Ben-Gad, Raya Rod, Reeval Segel , Katherine Kim, Barabra Burton, Catherine E Keegan, Mallory Wagner, Lindsay B Henderson, Nofar Mor, Ortal Barel, Yoel Hirsch, Vardiella Meiner, Orly Elpeleg, Tamar Harel , Hagar Mor-Shakad

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Emanuele Barca, Rebecca D. Ganetzky, Prasanth Potluri, Marti Juanola-Falgarona, Xiaowu Gai, Dong Li, Chaim Jalas, Yoel Hirsch, Valentina Emmanuele, Saba Tadesse, Marcello Ziosi, Hasan O. Akman, Wendy K. Chung, Kurenai Tanji, Elizabeth M. McCormick, Emily Place, Mark Consugar, Eric A. Pierce, Hakon Hakonarson, Douglas C. Wallace, Michio Hirano, and Marni J. Falk

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L.

ABCC8 Mutation Allele Frequency And Risk Of Focal Hyperinsulinemic Hypoglycemia In The Ashkenazi Jewish Population

Benjamin Glaser, Ilana Blech, Josef Ekstein, Heddy Landau, Dvorah Abeliovich

Nemaline Myopathy in the Ashkenazi Jewish Population is Caused by a Deletion in the Nebulin Gene

Sylvia L. Anderson, Josef Ekstein, Mary C. Donnelly, Erin M. Keefe, Nicole R. Toto, Lauretta A., LeVoci and Berish Y. Rubin

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

S. L. Anderson, W. K. Chung, J. Frezzo, J. C. Papp, J. Ekstein, S. DiMauro & B. Y. Rubin

The Frequency of Mucolipidosis Type IV in the Ashkenazi Jewish Population and the Identification of 3 Novel MCOLN1 Mutations

JGideon Bach, Michael B.T. Webb, Ruth Bargal, Marcia Zeigler, and Joseph Ekstein

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich,5,6 Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, and Orly Elpeleg

High-Throughput Carrier Screening Using TaqMan Allelic Discrimination

Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein, Nathan R. Treff

ABCC8 Mutation Allele Frequency in the Ashkenazi Jewish Population and Risk of Focal Hyperinsulinemichypoglycemia

Benjamin Glaser, MD, Ilana Blech, MS, Yocheved Krakinovsky, MS, Josef Ekstein, David Gillis, MD, Kineret Mazor-Aronovitch, MD, Heddy Landau, MD, and Dvorah Abeliovich, PhD

Mutation Frequencies for Glycogen Storage Disease Ia in the Ashkenazi Jewish Population

Josef Ekstein, Berish Y. Rubin, Sylvia L. Anderson, David A. Weinstein, Gideon Bach, Dvorah Abeliovich, Michael Webb, and Neil Risch

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

Neil Risch, Hua Tang, Howard Katzenstein, and Josef Ekstein

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

Sylvia L. Anderson, Rocco Coli, Ira W. Daly, Elizabeth A. Kichula, Matthew J. Rork, Sabrina A. Volpi, Josef Ekstein, and Berish Y. Rubin1

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, Sean S. Ephraim, Jose´ Gurrola, II, Allen Simpson…

Carrier frequency of two BBS2 mutations in the Ashkenazi population

Fedick A., Jalas C., Abeliovich D., Krakinovsky Y., Ekstein J., Ekstein A., Treff N. R.

Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population

Ruth Kornreich, PhD, Josef Ekstein, Lisa Edelmann, PhD and Robert J. Desnick, PhD, MD1

Cystic Fibrosis Heterozygote Screening in Orthodox Community of Ashkenazi Jews: The Dor Yesharim Approach and Heterozygote Frequency

Dvorah Abeliovich, Adina Quint, Neomi Weinberg, Galia Verchezon, Israela Lerer, Joseph Ekstein, Elyezer Rubenstein

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population

Chaim Jalas a, Sylvia L. Anderson b, Tova Laufer b, Kristina Martimucci b, Alex Bulanov b, Xie Xie b, Josef Ekstein c, Berish Y. Rubin b,

Screening for Carriers of Tay-Sachs Disease in the Ultraorthodox Ashkenazi Jewish Community in Israel

Etty Broide, Marcia Zeigler, Joseph Eckstein, and Gideon Bach

The Dor Yeshorim Story: Community-Based Carrier Screening for Tay-Sachs Disease

Josef Ekstein and Howard Katzenstein

Splice Site, Frameshift and Chimeric GFAP Mutations in Alexander Disease

Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing, and Michael Brenner1

A founder mutation in the TCIRG1 gene causes osteoporosis in the Ashkenazi Jewish population

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY.