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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

American journal of human genetics, 2009-07, Vol.85 (1), p.106-111

2009

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Lacosamide for SCN2A‐related intractable neonatal and infantile seizures

Epileptic disorders, 2018-10, Vol.20 (5), p.440-446

2018

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Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Cancer, 2019-03, Vol.125 (5), p.698-703

2019

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Congenital myopathy is caused by mutation of HACD1

Human molecular genetics, 2013-12, Vol.22 (25), p.5229-5236

2013

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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727

2009

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Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

Familial cancer, 2021-07, Vol.20 (3), p.189-194

2021

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The clinical spectrum of fetal Niemann–Pick type C

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.446-450

2009

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The cytogenetic constitution of embryos derived from immature (metaphase I) oocytes obtained after ovarian hyperstimulation

Fertility and sterility, 2010-08, Vol.94 (3), p.971-978

2010

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A new ATP1A1 variant associated with a novel disease phenotype

Biophysical journal, 2024-02, Vol.123 (3), p.398a-398a

2024

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eP475: Long-term follow-up on fetuses diagnosed in second trimester with isolated single umbilical artery and normal chromosomal microarray

Genetics in medicine, 2022-03, Vol.24 (3), p.S302-S302

2022

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Vertical transmission of a mutation in exon 1 of the WT1 gene: Lessons for genetic counseling

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2332-2336

2008

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Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

Journal of medical genetics, 2024-03, Vol.61 (3), p.289-293

2024

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The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel

Breast cancer research and treatment, 2018-02, Vol.167 (3), p.697-702

2018

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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

American journal of human genetics, 2009-02, Vol.84 (2), p.197-209

2009

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Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita

Prenatal diagnosis, 2017-02, Vol.37 (2), p.144-150

2017

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A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

Human mutation, 2016-08, Vol.37 (8), p.727-731

2016

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Journal of medical genetics, 2007-05, Vol.44 (5), p.322-326

2007

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Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita: Mutated NEB causes severe fetal nemaline myopathy

Prenatal diagnosis, 2017-02, Vol.37 (2), p.144-150

2017

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Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX

Chromosome research, 2004-01, Vol.12 (2), p.125-132

2004

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Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

Molecular vision, 2009-08, Vol.15, p.1709-1716

2009

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A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis: HUMAN MUTATION

Human mutation, 2016-08, Vol.37 (8), p.727-731

2016

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Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

Breast cancer research and treatment, 2016-01, Vol.155 (1), p.133-138

2016

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De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

Archives of neurology (Chicago), 2006-03, Vol.63 (3), p.445

2006

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Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center

Prenatal diagnosis, 2009-03, Vol.29 (3), p.223-228

2009

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SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Lacosamide for SCN2A‐related intractable neonatal and infantile seizures

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

Congenital myopathy is caused by mutation of HACD1

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

The clinical spectrum of fetal Niemann–Pick type C

The cytogenetic constitution of embryos derived from immature (metaphase I) oocytes obtained after ovarian hyperstimulation

A new ATP1A1 variant associated with a novel disease phenotype

eP475: Long-term follow-up on fetuses diagnosed in second trimester with isolated single umbilical artery and normal chromosomal microarray

Vertical transmission of a mutation in exon 1 of the WT1 gene: Lessons for genetic counseling

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita: Mutated NEB causes severe fetal nemaline myopathy

Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis: HUMAN MUTATION

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center

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