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Central nervous system involvement in individuals with RASopathies

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-12, Vol.190 (4), p.494-500

2022

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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Genetics in medicine, 2018-11, Vol.20 (11), p.1334-1345

2018

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Nature genetics, 2013-11, Vol.45 (11), p.1405-1408

2013

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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

American journal of human genetics, 2019-01, Vol.104 (1), p.35-44

2019

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Costello syndrome: Clinical phenotype, genotype, and management guidelines

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1725-1744

2019

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Tumor predisposition in Costello syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.72-77

Gripp, Karen W.

2005

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Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

Journal of human genetics, 2019-12, Vol.64 (12), p.1243-1245

2019

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Nature communications, 2020-07, Vol.11 (1), p.3698-3698, Article 3698

2020

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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

American journal of human genetics, 2014-08, Vol.95 (2), p.227-234

2014

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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1548-1554

2020

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315

2016

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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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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.269-291

2012

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Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1648-1656

2018

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

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Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1309-1318

2017

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Identifying facial phenotypes of genetic disorders using deep learning

Nature medicine, 2019-01, Vol.25 (1), p.60-64

2019

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1321-1332

2020

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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1711-1722

2018

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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-05, Vol.157C (2), p.129-135

2011

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Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63593-n/a

2024

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Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

Genetics in medicine, 2012-03, Vol.14 (3), p.285-292

2012

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Central nervous system involvement in individuals with RASopathies

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Tumor predisposition in Costello syndrome

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

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

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

Identifying facial phenotypes of genetic disorders using deep learning

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

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