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American Journal of Medical Genetics. Part A|November 8, 2019
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literatureLena Sagi-Dain, Alina Kurolap, Anat Ilivitzki, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control studyEfrat Dagan, Yoram Cohen, Adi Mory, et al.
Pediatric Neurology|March 18, 2014
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern IsraelAdi Mory, Efrat Dagan, Ishai Shahor, et al.
Journal of Neurology|April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosisDalit Barel, Daphna Marom, Penina Ponger, et al.
The New England Journal of Medicine|November 1, 2023
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and FibrosisHagit Baris Feldman, Chofit Chai Gadot, David Zahler, et al.
American Journal of Human Genetics|April 10, 2012
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndromeAdi Mory, Efrat Dagan, Barbara Illi, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Frontiers in Immunology|July 12, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case ReportShirley Pollack, Israel Eisenstein, Adi Mory, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
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