EphratLevy-LahadMD

PubMed

• 1 citations
  Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors
  Yael Laitman, Rachel Michaelson-Cohen, Rakefet Chen-Shtoyerman, Yael Goldberg, Orit Reish, Rinat Bernstein-Molho, Ephrat Levy-Lahad, Noa Ben Baruch, Inbal Kedar, D. Ga...> ;Familial Cancer. 2021 Jul 1
• 27 citations
  The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
  Hila Fridman, Helger G. Yntema, Reedik Mägi, Reidar Andreson, Andres Metspalu, Massimo Mezzavila, Chris Tyler-Smith, Yali Xue, Shai Carmi, Ephrat Levy-Lahad, Christian...> ;American Journal of Human Genetics. 2021 Apr 1
• 10 citations
  Breast cancer risk and hormone replacement therapy among BRCA carriers after risk-reducing salpingo-oophorectomy.
  Rachel Michaelson-Cohen, Shira Gabizon-Peretz, Shunit Armon, Naama Srebnik-Moshe, Pnina Mor, Ariela Tomer, Ephrat Levy-Lahad, Shani Paluch-Shimon> ;European Journal of Cancer. 2021 Mar 16
• 6 citations
  Performance comparison: exome sequencing as a single test replacing Sanger sequencing
  Hila Fridman, Concetta Bormans, Moshe Einhorn, Daniel Au, Arjan Bormans, Yuval Porat, Luisa Fernanda Sanchez, Brent Manning, Ephrat Levy-Lahad, Doron M. Behar> ;Molecular Genetics and Genomics. 2021 Mar 11
• 2 citations
  Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
  Jacob Ilany, JJ Liu, Christoph Welsch, Haike Reznik-Wolf, Ephrat Levy-Lahad, Richard J. Auchus> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Jan 23
• 6 citations
  NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.
  Adi Auerbach, Amitay Cohen, Noa Ofek Shlomai, Ariella Weinberg-Shukron, Suleyman Gulsuner, Mary Claire King, Rina Hemi, Ephrat Levy-Lahad, Abdulsalam Abu-Libdeh, David...> ;The Journal of Clinical Endocrinology and Metabolism. 2020 Nov 1
• 9 citations
  Hiding in Plain Sight - Somatic Mutation in Human Disease.
  Ephrat Levy-Lahad, Mary Claire King> ;The New England Journal of Medicine. 2020 Oct 27
• 2 citations
  Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
  Lara Kamal, Sarah B. Pierce, Christina Canavati, Amal Abu Rayyan, Tamara Jaraysa, Orit Lobel, Suhair Lolas, Barbara M. Norquist, Grace Rabie, Fouad Zahdeh, Ephrat Levy...> ;Cold Spring Harbor Molecular Case Studies. 2020 Oct 7
• 25 citations
  Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.
  Ranjit Manchanda, Sari Lieberman, Faiza Gaba, Amnon Lahad, Ephrat Levy-Lahad> ;Annual Review of Genomics and Human Genetics. 2020 Sep 1
• 1 citations
  A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
  Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron, P. Renbaum, Ephrat Levy-Lahad, David Zangen> ;Pediatric Endocrinology Reviews. 2020 Aug 1
• 4 citations
  Israeli Position Paper: Triage Decisions for Severely Ill Patients During the COVID-19 Pandemic. Joint Commission of the Israel National Bioethics Council, the Ethics ...
  Avraham Steinberg, Ephrat Levy-Lahad, Tami Karni, Noam J. Zohar, Gil Siegal, Charles L. Sprung> ;Rambam Maimonides Medical Journal. 2020 Jul 31
• 5 citations
  Israeli Position Paper: Triage Decisions for Severely Ill Patients During the COVID-19 Pandemic.
  Avraham Steinberg, Ephrat Levy-Lahad, Tami Karni, Charles L. Sprung> ;Chest. 2020 Jul 28
• 14 citations
  Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer.
  Tal Hadar, Pnina Mor, Gefen Amit, Sari Lieberman, David Gekhtman, Rachel Rabinovitch, Ephrat Levy-Lahad> ;JAMA Oncology. 2020 Sep 1
• 6 citations
  A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
  Reeval Segel, Adi Aran, Suleyman Gulsuner, Hiroki Nakamura, Tzvia Rosen, Tom Walsh, Hiroto Denda, Sharon Zeligson, Katsuki Eto, Rachel Beeri, Haruka Okai, Mary Claire ...> ;Neurogenetics. 2020 May 27
• 2 citations
  The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD
  Floris Levy-Khademi, Sharon Zeligson, Eran Lavi, Tehila Klopstock, Boris Chertin, Carmit Avnon Ziv, Abdulsalam Abu-Libdeh, Paul Renbaum, Tzvia Rosen, Shira Perlberg-Be...> ;Endocrine. 2020 May 5
• 3 citations
  The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
  Maha Abdulhadi-Atwan, Tehila Klopstock, Muna Sharaf, Ariella Weinberg-Shukron, Paul Renbaum, Ephrat Levy-Lahad, David Zangen> ;American Journal of Medical Genetics. Part A. 2020 Mar 5
• 2 citations
  Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
  Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Oded Olsha, Shalom Strano, Rachel Beeri, Sivan Koka, Hila Fridman, Karen Djemal, Itzhak Glick, Todd Zalut, Shlomo Segev,...> ;Genetics in Medicine. 2020 Mar 1
• 18 citations
  Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
  Hila Fridman, Doron M. Behar, Shai Carmi, Ephrat Levy-Lahad> ;Genetics in Medicine. 2020 Mar 1
• 7 citations
  The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
  Rinat Bernstein-Molho, Inbal Barnes-Kedar, Mark Ludman, Gili Reznik, Hagit Baris Feldman, Nadra Samra, Avital Eilat, Tamar Peretz, Lilach Peled Peretz, Tamar Shapira, ...> ;Breast Cancer Research and Treatment. 2019 Jul 31
• 2 citations
  Analysis of the genetic basis of height in large Jewish nuclear families
  Danny Zeevi, Joshua S. Bloom, Meru J. Sadhu, Adi Ben Yehuda, David Zangen, Ephrat Levy-Lahad, Leonid Kruglyak> ;Plos Genetics. 2019 Jul 8
• 8 citations
  Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.
  Sari Lieberman, Rachel Beeri, Tom Walsh, Menachem Schechter, Dan Keret, Elizabet Half, Suleyman Gulsuner, Ariela Tomer, Harold Jacob, Shlomi Cohen, Lina Basel-Salmon, ...> ;Clinical and Translational Gastroenterology. 2019 Jul 1
• 25 citations
  Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.
  Daniel Backenroth, Fouad Zahdeh, Yehuda Kling, Aharon Peretz, Tzvia Rosen, Dina Kort, Sharon Zeligson, Tal Dror, Sophie Kirshberg, Efrat Burak, Reeval Segel, Ephrat Le...> ;Genetics in Medicine. 2019 Jun 1
• 6 citations
  Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.
  Tamar Harel, Ephrat Levy-Lahad, Muhannad Daana, Hadas Mechoulam, Smadar Horowitz-Cederboim, Michal Gur, Vardiella Meiner, Orly Elpeleg> ;European Journal of Human Genetics. 2019 Apr 11
• 2 citations
  American Funding Cutback to East Jerusalem Hospitals: A Blow to the Health of the City.
  A. Mark Clarfield, Karl Skorecki, Ora Paltiel, Shimon Glick, Rafi Beyar, Dina Ben Yehuda, Rivka Carmi, Ziv Gil, Salem Billan, Zaher Azzam, Fuad Basis, Ephrat Levy-Laha...> ;American Journal of Public Health. 2018 Nov 7
• 2 citations
  Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation
  David A. Zeevi, Fouad Zahdeh, Yehuda Kling, Tzvia Rosen, Paul Renbaum, Raphael Ron-El, Talia Eldar-Geva, Hananel E.G. Holzer, Ephrat Levy-Lahad, Gheona Altarescu> ;Scientific Reports. 2018 Oct 29
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