Publications by authors named "Reeval Segel"

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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, Neta Feinstein-Goren, Aviva Eliyahu, Reeval Segel

Orphanet J Rare Dis· March 2025

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Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer M Bain, Bhooma Aravamuthan, Reeval Segel

JAMA Pediatr· February 2025

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Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, Yuval Yaron, Adi Reches, Reeval Segel

Prenat Diagn· April 2024

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Intellectual disability syndrome associated with a homozygous founder variant in in Ashkenazi Jews.
Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Reeval Segel

J Med Genet· February 2024

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National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Reeval Segel

JAMA Netw Open· February 2024

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SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
Daniel Backenroth, Gheona Altarescu, Fouad Zahdeh, Tzvia Mann, Omer Murik, Reeval Segel

Sci Rep· October 2023

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Clinical actionability of genetic findings in cerebral palsy.
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer Bain, Bhooma Aravamuthan, Reeval Segel

medRxiv· September 2023

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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from -deficient patients.
Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Segel Reeval

Front Pharmacol· July 2023

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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
Hagit Daum, Reeval Segel, Vardiella Meiner, Yael Goldberg, Sharon Zeligson

J Med Genet· January 2023

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Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
Tal Freund, Sarah K Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, Reeval Segel

J Clin Immunol· January 2023

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Carrier screening for Krabbe disease in an isolated inbred community.
Shlomit Ezer, Shachar Zuckerman, Reeval Segel, Joël Zlotogora

Am J Med Genet A· September 2022

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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, Aviva Fattal, Adi Aran, Reeval Segel

J Med Genet· August 2022

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Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Rachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, Orit Lobel, Omri Weiss, Reeval Segel

Mol Genet Genomics· July 2022

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A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.
Hagit Goldenstein, Sara Beni Shrem, Omri Weiss, Sharon Zeligson, Reeval Segel

Clin Dysmorphol· October 2021

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The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.
Lena Sagi-Dain, Amihood Singer, Reeval Segel, Racheli Berger, Bibi Kanengisser-Pines

Am J Obstet Gynecol· September 2021

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Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.
David A Zeevi, Daniel Backenroth, Elinor Hakam-Spector, Paul Renbaum, Tzvia Mann, Reeval Segel

Genet Med· July 2021

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Orna Staretz-Chacham, Suha Daas, Igor Ulanovsky, Ayala Blau, Nira Rostami, Reeval Segel

J Inherit Metab Dis· May 2021

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Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
Keren Rotshenker-Olshinka, Naama Srebnik Moshe, Omri Weiss, Shira Shaviv, Orit Freireich, Reeval Segel

J Assist Reprod Genet· March 2021

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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

Neurogenetics· October 2020

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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, Reeval Segel

Endocrine· September 2020

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Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.
Haruka Okai, Ryoko Ikema, Hiroki Nakamura, Mei Kato, Misako Araki, Reeval Segel

FEBS Lett· August 2020

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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, Reeval Segel

Genet Med· June 2019

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler, David Kronn, Seymour Packman, Reeval Segel

Genet Med· April 2019

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Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
Lena Sagi-Dain, Idit Maya, Adi Reches, Ayala Frumkin, Julia Grinshpun-Cohen, Reeval Segel

Obstet Gynecol· December 2018

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Essential Role of BRCA2 in Ovarian Development and Function.
Ariella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, Suleyman Gulsuner, Tom Walsh, Reeval Segel

N Engl J Med· September 2018

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