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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Journal of medical genetics, 2008-11, Vol.45 (11), p.704-709

2008

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

Journal of medical genetics, 2010-12, Vol.47 (12), p.823-828

2010

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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Clinical genetics, 2010-06, Vol.77 (6), p.541-551

2010

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Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

Clinical genetics, 2013-01, Vol.83 (1), p.92-95

2013

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Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

British journal of dermatology (1951), 2008-09, Vol.159 (3), p.748-751

2008

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2008-05, Vol.82 (5), p.1158-1164

2008

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Human genetics, 2007-05, Vol.121 (3-4), p.501-509

2007

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Cohen syndrome diagnosis using whole genome arrays

Journal of medical genetics, 2011-02, Vol.48 (2), p.136-140

2011

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Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

International journal of andrology, 2009-06, Vol.32 (3), p.226-230

2009

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ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Archives of andrology, 2001, Vol.47 (3), p.167-171

2001

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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502

2006

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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1108-1110

2006

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Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

American journal of medical genetics, 2002-09, Vol.112 (1), p.51-55

2002

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

American journal of human genetics, 2012-10, Vol.91 (4), p.694-702

2012

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American journal of human genetics, 2011-09, Vol.89 (3), p.407-414

2011

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682

2012

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.847-855

2012

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2011-07, Vol.89 (1), p.176-182

2011

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Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

American journal of human genetics, 2010-06, Vol.86 (6), p.949-956

2010

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Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

American journal of human genetics, 2010-02, Vol.86 (2), p.185-195

2010

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A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1976-1980

2011

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.337-342

2008

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Cohen syndrome diagnosis using whole genome arrays

Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Chromosome deletions in 13q33-34: Report of four patients and review of the literature

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