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O

Odelia Chorin

Sheba Medical Center
H指数:11
被引数:296

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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

新发罕见的EMX2变异导致特发性促性腺激素释放激素缺乏性性腺功能减退症。

Genetics in Medicine
IF6.2
2025-10-240
PRE
Maria Stamou; Miranda Tompkins; Hannah Bow; Jessica Kearney; Maleeha Akram; Harrison Brand; Xuefang Zhao; Shadi Zaheri; Neoklis A. Georgopoulos; Odelia Chorin; Yulia Khavkin; Tal Kedar; Margaret F. Lippincott; Lacey Plummer; Michael Talkowski; Yiping Shen; Doris K. Wu; Ravikumar Balasubramanian; Susan Wray; Stephanie B. Seminara
LONP1 Variants Are Associated With Clinically Diverse Phenotypes

LONP1 变体与临床表型多样性相关

Clinical Genetics
IF2.3
2025-09-100
PRE
Randee E. Young; Lu Qiao; Rebecca Hernan; David A. Sweetser; Jessica L. Waxler; Daryl A. Scott; Tiana M. Scott; Seema R. Lalani; Mahshid S. Azamian; Jill A. Rosenfeld; Bret Bostwick; Lindsay C. Burrage; Undiagnosed Diseases Network; Lance H. Rodan; Bianca E. Russell; Marina Dutra-Clarke; Michael Kruer; Somayeh Bakhtiarim; Hossein Darvish; David J. Amor; Shamima Rahman; Karen Stals; Lisa Bradley; Susan Byrne; Leandra K. Tolusso; Beatrix Wong; Laura Benedict; Kimberly Wallis; Kestutis Micke; Cindy Colson; Thomas Smol; Sabrina V. Southwick; Kristen A. Miller; Michelle L. Kush; Odelia Chorin; Annick Rothschild; Wei Wang; Yufeng Shen; Wendy K. Chung
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

HNRNPK特异的DNA甲基化特征解释了错义变异，并扩展了Au-Kline综合征的表型谱。

american journal of human genetics
IF0
2025-08-070
OA
Sanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study

以色列帕金森病的基因检测：来自罗斯托克帕金森病（ROPAD）研究的研究见解

Parkinsonism & Related Disorders
IF3.4
2025-06-280
OA
Saar Anis; Caroline Weill; Penina Ponger; Maria Nassar; Johnathan Reiner; Odelia Chorin; Sitki Cem Parlar; Roy N. Alcalay; Ziv Gan-Or; Adi Ezra; Adi Saar; Avner Thaler; Oren S. Cohen; Yair Zlotnik; Sandra Benizri; Zeev Nitsan; Ruth Djaldetti; Gilad Yahalom; Ilana Schlesinger; Christine Klein; Lior Greenbaum
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-03-180
OAAI
Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics

以色列遗传性甲状腺素转运蛋白淀粉样变性：遗传景观与临床特征

EUROPEAN JOURNAL OF NEUROLOGY
IF3.9
2025-01-290
OA
Dori, Amir; Chorin, Odelia; Ruhrman-Shahar, Noa; Fellner, Avi; Alon, Tayir; Reznik-Wolf, Haike; Barel, Ortal; Fourey, Dana; Zadok, Osnat Itzhaki Ben; Aviv, Yaron; Nikitin, Vera; Ben-David, Merav; Shavit-Stein, Efrat; Goldis, Rivka; Kaplan, Batia; Shapiro, Daniela; Pras, Elon; Pollak, Arthur; Meiner, Vardiella; Arad, Michael; Greenbaum, Lior
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
GENETICS IN MEDICINE
IF6.2
2024-11-010
PRE
Huang, Yue; Jay, Kristy L.; Huang, Alden Yen-Wen; Wan, Jijun; Jangam, Sharayu V.; Chorin, Odelia; Rothschild, Annick; Barel, Ortal; Mariani, Milena; Iascone, Maria; Xue, Han; Huang, Jing; Mignot, Cyril; Keren, Boris; Saillour, Virginie; Mah-Som, Annelise Y.; Sacharow, Stephanie; Rajabi, Farrah; Costin, Carrie; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J.; Rosenfeld, Jill A.; Palmer, Christina G. S.; Nelson, Stanley F.; Wangler, Michael F.; Martinez-Agosto, Julian A.
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2024-08-010
PRE
Lempel, Noga; Shelly, Shahar; Chorin, Odelia; Rock, Rachel; Eliyahu, Aviva; Finezilber, Yael; Poran, Hana; Feinstein-Goren, Neta; Segev, Meirav; Reznik-Wolf, Haike; Barel, Ortal; Orion, David; Anis, Saar; Regev, Miriam; Yonath, Hagith; Dominissini, Dan; Blatt, Ilan; Hassin-Baer, Sharon; Dori, Amir; Pras, Elon; Greenbaum, Lior
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-019
OAAI
van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; van der Loeff, Ina Schim; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H. M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S. V.; Hoischen, Alexander
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-10-0117
OAAI
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
SCIENTIFIC REPORTS
IF3.9
2021-09-2715
OAAI
Ben Pode-Shakked; Barel, Ortal; Singer, Amihood; Regev, Miriam; Poran, Hana; Eliyahu, Aviva; Finezilber, Yael; Segev, Meirav; Berkenstadt, Michal; Yonath, Hagith; Reznik-Wolf, Haike; Gazit, Yael; Chorin, Odelia; Heimer, Gali; Gabis, Lidia, V; Tzadok, Michal; Nissenkorn, Andreea; Bar-Yosef, Omer; Zohar-Dayan, Efrat; Ben-Zeev, Bruria; Mor, Nofar; Kol, Nitzan; Nayshool, Omri; Shimshoviz, Noam; Bar-Joseph, Ifat; Marek-Yagel, Dina; Javasky, Elisheva; Einy, Reviva; Gal, Moran; Grinshpun-Cohen, Julia; Shohat, Mordechai; Dominissini, Dan; Raas-Rothschild, Annick; Rechavi, Gideon; Pras, Elon; Greenbaum, Lior
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-07-0218
PRE
Bolkier, Yoav; Barel, Ortal; Marek-Yagel, Dina; Atias-Varon, Danit; Kagan, Maayan; Vardi, Amir; Mishali, David; Katz, Uriel; Salem, Yishay; Tirosh-Wagner, Tal; Jacobson, Jeffrey M.; Raas-Rothschild, Annick; Chorin, Odelia; Eliyahu, Aviva; Sarouf, Yarden; Shlomovitz, Omer; Veber, Alvit; Shalva, Nechama; Javasky, Elisheva; Ben Moshe, Yishay; Staretz-Chacham, Orna; Rechavi, Gideon; Mane, Shrikant; Anikster, Yair; Vivante, Asaf; Pode-Shakked, Ben

研究方向

暂未获取到该数据
O
Ortal Barel
H 指数:27论文数:121被引数:2,335
L
Lior Greenbaum
H 指数:30论文数:165被引数:3,161
B
Ben Pode‐Shakked
H 指数:27论文数:99被引数:2,044
A
Aviva Eliyahu
H 指数:12论文数:41被引数:724
E
Elon Pras
H 指数:39论文数:142被引数:6,260
Y
Yoav Bolkier
H 指数:9论文数:20被引数:369
A
Amir Dori
H 指数:20论文数:103被引数:1,673
M
Miriam Regev
H 指数:10论文数:24被引数:364
H
Hagit Shani
H 指数:10论文数:32被引数:706
A
Annick Raas‐Rothschild
H 指数:44论文数:155被引数:6,561