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Identification of a homozygous VRK1 mutation in two patients with adult‐onset distal hereditary motor neuropathy

Muscle & nerve, 2020-03, Vol.61 (3), p.395-400

2020

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.606-617

2021

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Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Molecular genetics & genomic medicine, 2019-04, Vol.7 (4), p.e00573-n/a

2019

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Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

Annals of clinical and translational neurology, 2021-06, Vol.8 (6), p.1260-1268

2021

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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

American journal of human genetics, 2012-12, Vol.91 (6), p.1065-1072

2012

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Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

American journal of human genetics, 2008-05, Vol.82 (5), p.1217-1222

2008

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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in genetics, 2019-06, Vol.10, p.425-425

2019

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P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

Genetics in Medicine Open, 2023, Vol.1 (1), p.100604, Article 100604

2023

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Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling

Journal of the American Society of Nephrology, 2013-04, Vol.24 (4), p.550-558

2013

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Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1248-1255

2012

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

BMC medical genomics, 2016-05, Vol.9 (1), p.24-24, Article 24

2016

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Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever

Arthritis care & research (2010), 2010-09, Vol.62 (9), p.1294-1298

2010

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Clinical disease among patients heterozygous for familial mediterranean fever

Arthritis and rheumatism, 2009-06, Vol.60 (6), p.1862-1866

2009

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Prenatal diagnosis, 2012-01, Vol.32 (1), p.70-74

2012

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Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

Investigative ophthalmology & visual science, 2006-12, Vol.47 (12), p.5283-5287

2006

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Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations

The journal of clinical endocrinology and metabolism, 2021-02, Vol.106 (2), p.e680-e686

2021

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Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

The Journal of experimental medicine, 2016-07, Vol.213 (8), p.1429-1440

2016

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Expanded targeted preconception screening panel in Israel: findings and insights

Journal of medical genetics, 2024-08, Vol.61 (8), p.783-787

2024

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The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting

Journal of the neurological sciences, 2024-08, Vol.463, p.123074, Article 123074

2024

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Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews

International journal of cardiology, 2020-10, Vol.317 (C), p.133-138

2020

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Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly

European journal of medical genetics, 2021-02, Vol.64 (2), p.104124-104124, Article 104124

2021

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Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity

European journal of medical genetics, 2022-01, Vol.65 (1), p.104383-104383, Article 104383

2022

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Clues and challenges in the diagnosis of intermittent maple syrup urine disease

European journal of medical genetics, 2020-06, Vol.63 (6), p.103901-103901, Article 103901

2020

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Identification of a homozygous VRK1 mutation in two patients with adult‐onset distal hereditary motor neuropathy

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever

Clinical disease among patients heterozygous for familial mediterranean fever

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Expanded targeted preconception screening panel in Israel: findings and insights

The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting

Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews

Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity

Clues and challenges in the diagnosis of intermittent maple syrup urine disease

Noncoding deletions reveal a gene that is critical for intestinal function

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