Publications by authors named "Fouad Zahdeh"

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Discovering predisposing genes for hereditary breast cancer using deep learning.
Gal Passi, Sari Lieberman, Fouad Zahdeh, Omer Murik, Paul Renbaum

Brief Bioinform· May 2024

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Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus.
Tayma Handal, Sarah Juster, Manar Abu Diab, Shira Yanovsky-Dagan, Fouad Zahdeh

Nat Commun· April 2024

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Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Christina Canavati, Dana Sherill-Rofe, Lara Kamal, Idit Bloch, Fouad Zahdeh

Genome Med· January 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

Sci Rep· October 2023

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Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis.
Natan Florsheim, Larisa Naugolni, Fouad Zahdeh, Orit Lobel, Batel Terespolsky

Eur J Endocrinol· September 2023

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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, Fouad Zahdeh

Genet Med· July 2021

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Helicase-inactivating mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Lara Kamal, Sarah B Pierce, Christina Canavati, Amal Abu Rayyan, Tamara Jaraysa, Fouad Zahdeh

Cold Spring Harb Mol Case Stud· 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, Fouad Zahdeh

Endocrine· September 2020

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Genomic analysis of inherited hearing loss in the Palestinian population.
Amal Abu Rayyan, Lara Kamal, Silvia Casadei, Zippora Brownstein, Fouad Zahdeh

Proc Natl Acad Sci U S A· August 2020

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Nucleotide composition affects codon usage toward the 3'-end.
Fouad Zahdeh, Liran Carmel

PLoS One· March 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

Genet Med· June 2019

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Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
Christina Canavati, Karl Martin Klein, Zaid Afawi, Manuela Pendziwiat, Amal Abu Rayyan, Fouad Zahdeh

Epilepsia· June 2019

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Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.
David A Zeevi, Fouad Zahdeh, Yehuda Kling, Shai Carmi, Gheona Altarescu

J Assist Reprod Genet· April 2019

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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

Sci Rep· October 2018

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Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy.
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Fouad Zahdeh

J Med Genet· September 2018

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The role of nucleotide composition in premature termination codon recognition.
Fouad Zahdeh, Liran Carmel

BMC Bioinformatics· December 2016

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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
David A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, Fouad Zahdeh, Tama Dinur

J Clin Invest· October 2015

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The unfolded protein response affects readthrough of premature termination codons.
Yifat S Oren, Michelle L McClure, Steven M Rowe, Eric J Sorscher, Assaf C Bester, Fouad Zahdeh

EMBO Mol Med· May 2014

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