Search | VHL CLAP/WR-PAHO/WHO

1.

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14^th century.

Waldman, Shamam; Backenroth, Daniel; Harney, Éadaoin; Flohr, Stefan; Neff, Nadia C; Buckley, Gina M; Fridman, Hila; Akbari, Ali; Rohland, Nadin; Mallick, Swapan; Olalde, Iñigo; Cooper, Leo; Lomes, Ariel; Lipson, Joshua; Cano Nistal, Jorge; Yu, Jin; Barzilai, Nir; Peter, Inga; Atzmon, Gil; Ostrer, Harry; Lencz, Todd; Maruvka, Yosef E; Lämmerhirt, Maike; Beider, Alexander; Rutgers, Leonard V; Renson, Virginie; Prufer, Keith M; Schiffels, Stephan; Ringbauer, Harald; Sczech, Karin; Carmi, Shai; Reich, David.

Cell ; 185(25): 4703-4716.e16, 2022 Dec 08.

Article in English | MEDLINE | ID: mdl-36455558

2.

Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency.

Alim, Ishraq; Loke, Johnny; Yam, Sarah; Templeton, Allyson S; Newcomb, Polly; Lindor, Noralane M; Pai, Rish K; Jenkins, Mark A; Buchanan, Daniel D; Gallinger, Steven; Klugman, Susan; Ostrer, Harry.

Genet Med ; 24(9): 1821-1830, 2022 09.

Article in English | MEDLINE | ID: mdl-35616648

3.

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin, Adam; Huether, Robert; Machado, Aline Z; Groden, Michael; Liu, Hsiao-Mei; Upadhyay, Kinnari; O, Vivian; Gomes, Nathalia L; Lerario, Antonio M; Nishi, Mirian Y; Costa, Elaine M F; Mendonca, Berenice; Domenice, Sorahia; Velasco, Jacqueline; Loke, Johnny; Ostrer, Harry.

Hum Mol Genet ; 28(10): 1620-1628, 2019 05 15.

Article in English | MEDLINE | ID: mdl-30608580

4.

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

Lencz, Todd; Yu, Jin; Palmer, Cameron; Carmi, Shai; Ben-Avraham, Danny; Barzilai, Nir; Bressman, Susan; Darvasi, Ariel; Cho, Judy H; Clark, Lorraine N; Gümüs, Zeynep H; Joseph, Vijai; Klein, Robert; Lipkin, Steven; Offit, Kenneth; Ostrer, Harry; Ozelius, Laurie J; Peter, Inga; Atzmon, Gil; Pe'er, Itsik.

Hum Genet ; 137(4): 343-355, 2018 Apr.

Article in English | MEDLINE | ID: mdl-29705978

5.

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Granados, Andrea; Alaniz, Veronica I; Mohnach, Lauren; Barseghyan, Hayk; Vilain, Eric; Ostrer, Harry; Quint, Elisabeth H; Chen, Ming; Keegan, Catherine E.

Am J Med Genet C Semin Med Genet ; 175(2): 253-259, 2017 06.

Article in English | MEDLINE | ID: mdl-28504475

6.

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

Loke, Johnny; Pearlman, Alexander; Upadhyay, Kinnari; Tesfa, Lydia; Shao, Yongzhao; Ostrer, Harry.

Hum Mol Genet ; 24(11): 3030-7, 2015 Jun 01.

Article in English | MEDLINE | ID: mdl-25652403

7.

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells.

Syeda, Mahrukh M; Upadhyay, Kinnari; Loke, Johnny; Pearlman, Alexander; Klugman, Susan; Shao, Yongzhao; Ostrer, Harry.

Genet Med ; 19(9): 1071-1077, 2017 09.

Article in English | MEDLINE | ID: mdl-28301456

8.

Differential analysis of mutations in the Jewish population and their implications for diseases.

Einhorn, Yaron; Weissglas-Volkov, Daphna; Carmi, Shai; Ostrer, Harry; Friedman, Eitan; Shomron, Noam.

Genet Res (Camb) ; 99: e3, 2017 05 15.

Article in English | MEDLINE | ID: mdl-28502252

9.

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/ß-catenin signaling.

Loke, Johnny; Pearlman, Alexander; Radi, Orietta; Zuffardi, Orsetta; Giussani, Ursula; Pallotta, Rosanna; Camerino, Giovanna; Ostrer, Harry.

Hum Mol Genet ; 23(4): 1073-83, 2014 Feb 15.

Article in English | MEDLINE | ID: mdl-24135036

10.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

Vacic, Vladimir; Ozelius, Laurie J; Clark, Lorraine N; Bar-Shira, Anat; Gana-Weisz, Mali; Gurevich, Tanya; Gusev, Alexander; Kedmi, Merav; Kenny, Eimear E; Liu, Xinmin; Mejia-Santana, Helen; Mirelman, Anat; Raymond, Deborah; Saunders-Pullman, Rachel; Desnick, Robert J; Atzmon, Gil; Burns, Edward R; Ostrer, Harry; Hakonarson, Hakon; Bergman, Aviv; Barzilai, Nir; Darvasi, Ariel; Peter, Inga; Guha, Saurav; Lencz, Todd; Giladi, Nir; Marder, Karen; Pe'er, Itsik; Bressman, Susan B; Orr-Urtreger, Avi.

Hum Mol Genet ; 23(17): 4693-702, 2014 Sep 01.

Article in English | MEDLINE | ID: mdl-24842889

11.

The genetic history of Cochin Jews from India.

Waldman, Yedael Y; Biddanda, Arjun; Dubrovsky, Maya; Campbell, Christopher L; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon.

Hum Genet ; 135(10): 1127-43, 2016 10.

Article in English | MEDLINE | ID: mdl-27377974

12.

Expanded genetic screening panel for the Ashkenazi Jewish population.

Baskovich, Brett; Hiraki, Susan; Upadhyay, Kinnari; Meyer, Philip; Carmi, Shai; Barzilai, Nir; Darvasi, Ariel; Ozelius, Laurie; Peter, Inga; Cho, Judy H; Atzmon, Gil; Clark, Lorraine; Yu, Jin; Lencz, Todd; Pe'er, Itsik; Ostrer, Harry; Oddoux, Carole.

Genet Med ; 18(5): 522-8, 2016 05.

Article in English | MEDLINE | ID: mdl-26334176

13.

Health care professionals' attitudes toward cancer gene panel testing.

Klugman, Susan; Schnabel, Freya; Alim, Ishraq; Loke, Johnny; Arun, Banu; Chun Kim, Jennifer; Ostrer, Harry.

Breast J ; 27(5): 499-500, 2021 05.

Article in English | MEDLINE | ID: mdl-33677830

14.

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe.

Botigué, Laura R; Henn, Brenna M; Gravel, Simon; Maples, Brian K; Gignoux, Christopher R; Corona, Erik; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Flores, Carlos; Bertranpetit, Jaume; Comas, David; Bustamante, Carlos D.

Proc Natl Acad Sci U S A ; 110(29): 11791-6, 2013 Jul 16.

Article in English | MEDLINE | ID: mdl-23733930

15.

North African Jewish and non-Jewish populations form distinctive, orthogonal clusters.

Campbell, Christopher L; Palamara, Pier F; Dubrovsky, Maya; Botigué, Laura R; Fellous, Marc; Atzmon, Gil; Oddoux, Carole; Pearlman, Alexander; Hao, Li; Henn, Brenna M; Burns, Edward; Bustamante, Carlos D; Comas, David; Friedman, Eitan; Pe'er, Itsik; Ostrer, Harry.

Proc Natl Acad Sci U S A ; 109(34): 13865-70, 2012 Aug 21.

Article in English | MEDLINE | ID: mdl-22869716

16.

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

Kenny, Eimear E; Pe'er, Itsik; Karban, Amir; Ozelius, Laurie; Mitchell, Adele A; Ng, Sok Meng; Erazo, Monica; Ostrer, Harry; Abraham, Clara; Abreu, Maria T; Atzmon, Gil; Barzilai, Nir; Brant, Steven R; Bressman, Susan; Burns, Edward R; Chowers, Yehuda; Clark, Lorraine N; Darvasi, Ariel; Doheny, Dana; Duerr, Richard H; Eliakim, Rami; Giladi, Nir; Gregersen, Peter K; Hakonarson, Hakon; Jones, Michelle R; Marder, Karen; McGovern, Dermot P B; Mulle, Jennifer; Orr-Urtreger, Avi; Proctor, Deborah D; Pulver, Ann; Rotter, Jerome I; Silverberg, Mark S; Ullman, Thomas; Warren, Stephen T; Waterman, Matti; Zhang, Wei; Bergman, Aviv; Mayer, Lloyd; Katz, Seymour; Desnick, Robert J; Cho, Judy H; Peter, Inga.

PLoS Genet ; 8(3): e1002559, 2012.

Article in English | MEDLINE | ID: mdl-22412388

17.

Genes: US patent rulings will fuel invention.

Ostrer, Harry.

Nature ; 499(7456): 29, 2013 Jul 04.

Article in English | MEDLINE | ID: mdl-23823784

18.

Cancer risk assessment using genetic panel testing: considerations for clinical application.

Hiraki, Susan; Rinella, Erica S; Schnabel, Freya; Oratz, Ruth; Ostrer, Harry.

J Genet Couns ; 23(4): 604-17, 2014 Aug.

Article in English | MEDLINE | ID: mdl-24599651

19.

The history of African gene flow into Southern Europeans, Levantines, and Jews.

Moorjani, Priya; Patterson, Nick; Hirschhorn, Joel N; Keinan, Alon; Hao, Li; Atzmon, Gil; Burns, Edward; Ostrer, Harry; Price, Alkes L; Reich, David.

PLoS Genet ; 7(4): e1001373, 2011 Apr.

Article in English | MEDLINE | ID: mdl-21533020

20.

The population genetics of the Jewish people.

Ostrer, Harry; Skorecki, Karl.

Hum Genet ; 132(2): 119-27, 2013 Feb.

Article in English | MEDLINE | ID: mdl-23052947

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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