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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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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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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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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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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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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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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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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Human mutation, 2012-02, Vol.33 (2), p.440-447

2012

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.310-316

2013

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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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Decreased tryptophan metabolism in patients with autism spectrum disorders

Molecular autism, 2013-06, Vol.4 (1), p.16-16, Article 16

2013

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

American journal of human genetics, 2020-02, Vol.106 (2), p.234-245

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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MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression

Human molecular genetics, 2017-06, Vol.26 (11), p.2062-2075

2017

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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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Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.879-886

2023

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Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1421-1425

2020

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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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Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

The Journal of molecular diagnostics : JMD, 2024-07

2024

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A SOX3 duplication and lumbosacral spina bifida in three generations

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1572-1577

2022

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Adverse birth outcome among mothers with low serum cholesterol

Pediatrics (Evanston), 2007-10, Vol.120 (4), p.723

2007

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

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

X‐linked intellectual disability update 2017

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

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

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

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

X‐Linked intellectual disability update 2022

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

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

Decreased tryptophan metabolism in patients with autism spectrum disorders

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

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

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression

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

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency

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

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

A SOX3 duplication and lumbosacral spina bifida in three generations

Adverse birth outcome among mothers with low serum cholesterol

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