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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

American journal of human genetics, 2012-04, Vol.90 (4), p.579-590

2012

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X‐linked intellectual disability update 2017

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1375-1388

2018

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Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1379-1387

Stevenson, Roger E.

2021

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The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

Baillière's best practice & research. Clinical endocrinology & metabolism, 2007-06, Vol.21 (2), p.307-321

2007

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Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1111

2021

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-17, Article 64

2019

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1036-n/a

2020

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

American journal of human genetics, 2005-07, Vol.77 (1), p.41-53

2005

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487

2015

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Nature genetics, 2007-04, Vol.39 (4), p.451-453

2007

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695

2006

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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

American journal of human genetics, 2010-08, Vol.87 (2), p.173-188

2010

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Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Proceedings of the National Academy of Sciences - PNAS, 2011-03, Vol.108 (12), p.4920-4925

2011

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Genome Research, 2008-06, Vol.18 (6), p.847-858

2008

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Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification

The Journal of pediatrics, 2020-11, Vol.226, p.186-194.e4

2020

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BMJ open, 2016-04, Vol.6 (4), p.e009537-e009537

2016

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Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

The Journal of pediatrics, 2011-07, Vol.159 (1), p.143-149.e2

2011

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074

2021

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A new test for autism spectrum disorder: Metabolic data from different cell types

Data in brief, 2021-12, Vol.39, p.107598-107598, Article 107598

2021

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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

Frontiers in molecular neuroscience, 2016-01, Vol.8, p.83-83

2016

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A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

Biology (Basel, Switzerland), 2018-05, Vol.7 (2), p.31

2018

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In search of the earliest images of symmelia in works of art

American journal of medical genetics. Part C, Seminars in medical genetics, 2021-06, Vol.187 (2), p.151-156

2021

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Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability

Clinical genetics, 2024-02, Vol.105 (2), p.173-184

2024

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X‐Linked intellectual disability update 2022

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.144-159

2023

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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

X‐linked intellectual disability update 2017

Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures

The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

A new test for autism spectrum disorder: Metabolic data from different cell types

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

In search of the earliest images of symmelia in works of art

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability

X‐Linked intellectual disability update 2022

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