Publications by authors named "Reeval Segel"

37Publications

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Neurogenetics 2020 10 27;21(4):259-267. Epub 2020 May 27.

Medical Genetics Institute, Shaare Zedek Medical Center and Hebrew University-Hadassah School of Medicine, P.O.B. 3235, 91031, Jerusalem, Israel.

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October 2020

Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.

FEBS Lett 2020 Aug 11;594(15):2431-2439. Epub 2020 Jun 11.

School of Applied Biological Science, Hiroshima University, Higashi-Hiroshima, Japan.

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August 2020

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.

Obstet Gynecol 2018 12;132(6):1368-1375

Genetics Institute, Carmel Medical Center, Haifa, the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, the Genetics Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, the Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, the Genetic Institute, Assaf Harofeh Medical Center, Zerifin, the Medical Genetics Institute, Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, the Genetic Institute, Soroka University Medical Center, Faculty of Health Sciences Ben-Gurion University of the Negev, Negev, the Institute of Human Genetics, Haemek Medical Center, Afula, the Medical Genetics Institute, Meir Medical Center, Kfar Saba, the Genetics Institute, Kaplan Medical Center, Rehovot, affiliated to the Hebrew University and Hadassah Medical School, Jerusalem, the Genetics Institute, Bnai Zion Medical Center, Haifa, the Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Cytogenetic Maccabi Health Care, Tel Aviv, and Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

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December 2018

Essential Role of BRCA2 in Ovarian Development and Function.

N Engl J Med 2018 09;379(11):1042-1049

From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).

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September 2018

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.

J Perinat Med 2018 Dec;47(1):30-34

Genetic Institute, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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December 2018

Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.

J Child Neurol 2018 06 24;33(7):482-486. Epub 2018 Apr 24.

3 Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.

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June 2018

Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature.

J Matern Fetal Neonatal Med 2019 Aug 28;32(16):2643-2648. Epub 2018 Feb 28.

l Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center , Petach Tikva , Israel.

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August 2019

Brain calcifications and variants.

Neurol Genet 2017 Aug 26;3(4):e166. Epub 2017 Jul 26.

Department of Genetics and CNR-MAJ (G.N., A.-C.R., O.Q.), Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, France; Department of Human Genetics (G.N.), Genome Research, Radboud UMC, Nijmegen, The Netherlands; Department of Neuroscience (M.S.-C., D.W.D., R.R.), Mayo Clinic, Jacksonville, FL; Department of Psychiatry (E.M.R., A.R.L., A.L., G.C., D.H.G.), Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles; Keizo Asami Laboratory (R.R.L., J.F., D.M., J.R.M.d.O), Federal University of Pernambuco, Recife, Brazil; Fundación Pública Galega de Medicina Xenómica (M.J.S.), Clinical University Hospital of Santiago de Compostela-SERGAS, Spain; Centre National de Recherche en Génomique Humaine (CNRGH) (J.-F.D., A.B.), Institut de Biologie François Jacob, CEA, Evry; Department of Neurology (P.K.), Amiens University Hospital; Department of Neurology (P.F.), Tenon Hospital, AP-HP, Paris, France; Medical Genetics MRI Unit (R.S., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (R.S., E.L.-L.); and Neuropsychiatry Department (J.R.M.d.O), Universidade Federal de Pernambuco, Recife, Brazil.

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August 2017

Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.

Isr Med Assoc J 2017 Jul;19(7):435-437

Hebrew University School of Medicine, Jerusalem, Israel.

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July 2017

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Neurology 2017 Mar 10;88(11):1021-1028. Epub 2017 Feb 10.

From the Neuropediatric Unit (A.A.) and Medical Genetics (R.S., P.R., A.W.-S., S.Z., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., R.S., A.W.-S., E.L.-L.), Jerusalem, Israel; Department of Chemistry and Biochemistry (K.K., S.O., S.M.P.), University of California, Santa Barbara; Faculty of Medicine (T.M., Y.H., A.O.S.), Bar Ilan University, Safed, Israel; and Departments of Medicine and Genome Sciences (S.G., M.K.L., M.-C.K., T.W.), University of Washington, Seattle.

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March 2017