Research Publications

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.

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,

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

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

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.

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…

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

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, MD

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

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

High-Throughput Carrier Screening Using TaqMan Allelic Discrimination
Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein, Nathan R. Treff

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

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

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