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Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

Human molecular genetics, 2005-12, Vol.14 (24), p.3911-3920

2005

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A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

BMC cancer, 2007, Vol.7 (1), p.14-14, Article 14

2007

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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

American journal of human genetics, 2008-10, Vol.83 (4), p.529-534

2008

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

American journal of human genetics, 1998-07, Vol.63 (1), p.170-180

1998

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Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia

Journal of the American Academy of Dermatology, 2007-11, Vol.57 (5), p.814-818

2007

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Mutation spectrum in HNPCC in the Israeli population

Familial cancer, 2008-12, Vol.7 (4), p.309-317

2008

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Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

American journal of human genetics, 1998-10, Vol.63 (4), p.1224-1227

1998

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Genetic screening in patients with Retinoblastoma in Israel

Familial cancer, 2015-09, Vol.14 (3), p.471-480

2015

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Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations

Journal of medical genetics, 2007-07, Vol.44 (7), p.467-471

2007

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X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

European journal of human genetics : EJHG, 2000-06, Vol.8 (6), p.449-454

2000

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ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

Genetics in medicine, 2011-10, Vol.13 (10), p.891-894

2011

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A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Human mutation, 2001-11, Vol.18 (5), p.460-460

2001

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The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?

Human mutation, 2000-04, Vol.15 (4), p.385-386

2000

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The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women

American journal of human genetics, 1997-03, Vol.60 (3), p.505-514

1997

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Lynch Syndrome in high risk Ashkenazi Jews in Israel

Familial cancer, 2014-03, Vol.13 (1), p.65-73

2014

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The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

Nature genetics, 1995-10, Vol.11 (2), p.198-200

1995

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Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1825-1832

2011

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Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening

American journal of medical genetics. Part A, 2005-07, Vol.136A (3), p.246-248

2005

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A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1150-1158

2007

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Increased severity over generations of Charcot-Marie-Tooth disease type 1A

Journal of neurology, 2008-06, Vol.255 (6), p.813-819

2008

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Absence of founder BRCA1 and BRCA2 mutations in coetaneous malignant melanoma patients of Ashkenazi origin

Familial cancer, 2009-03, Vol.8 (1), p.29-32

2009

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Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

American journal of medical genetics. Part A, 2006-08, Vol.140A (16), p.1785-1788

2006

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An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC

Familial cancer, 2010-06, Vol.9 (2), p.141-150

2010

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Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

Familial cancer, 2009-09, Vol.8 (3), p.187-194

2009

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Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia

Mutation spectrum in HNPCC in the Israeli population

Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

Genetic screening in patients with Retinoblastoma in Israel

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women

Lynch Syndrome in high risk Ashkenazi Jews in Israel

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)

Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

Increased severity over generations of Charcot-Marie-Tooth disease type 1A

Absence of founder BRCA1 and BRCA2 mutations in coetaneous malignant melanoma patients of Ashkenazi origin

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

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