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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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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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Cohen syndrome diagnosis using whole genome arrays

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

2011

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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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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Neurology, 2016-03, Vol.86 (10), p.954-962

2016

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518

2015

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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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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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A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.887-890

2013

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Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Clinical genetics, 2020-02, Vol.97 (2), p.362-369

2020

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Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2394-2399

2016

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.146-146, Article 146

2013

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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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Pierpont syndrome: report of a new patient

Clinical dysmorphology, 2017-10, Vol.26 (4), p.205-208

2017

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Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Mitochondrion, 2013-11, Vol.13 (6), p.743-748

2013

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Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2587-2590

2012

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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.620-626

2014

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Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.539-543

2010

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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.291-295

2010

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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

European journal of human genetics : EJHG, 2008-09, Vol.16 (9), p.1029-1037

2008

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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Human mutation, 2009-02, Vol.30 (2), p.E404-E420

2009

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

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

Cohen syndrome diagnosis using whole genome arrays

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

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Next-generation sequencing in X-linked intellectual disability

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

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

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

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

Pierpont syndrome: report of a new patient

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

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