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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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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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HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.1-7

2006

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Somatic mosaicism for an HRAS mutation causes Costello syndrome

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2163-2169

2006

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An integrated approach for analyzing clinical genomic variant data from next-generation sequencing

Journal of biomolecular techniques, 2015-04, Vol.26 (1), p.19-28

2015

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Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

American journal of medical genetics. Part A, 2007-07, Vol.143A (13), p.1472-1480

2007

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Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2240-2249

2014

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Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation1

Biology of reproduction, 2013-07, Vol.89 (1), p.6-6

2013

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Longitudinal assessment of cognitive characteristics in Costello syndrome

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3185-3193

2007

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Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Neurogenetics, 2021-03, Vol.22 (1), p.53-64

2021

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Medically actionable comorbidities in adults with Costello syndrome

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.130-136

2020

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Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3197-3206

2016

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Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation

Biology of reproduction, 2013-07, Vol.89 (1), p.6-6

2013

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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.781-788

2005

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Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Neuromuscular disorders : NMD, 2017-05, Vol.27 (5), p.439-446

2017

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Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1294-1300

2017

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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2085-2097

2015

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SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Molecular genetics & genomic medicine, 2015-07, Vol.3 (4), p.248-257

2015

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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2106-2118

2012

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Assessing genotype–phenotype correlation in Costello syndrome using a severity score

Genetics in medicine, 2013-07, Vol.15 (7), p.554-557

2013

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Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.315-321

2009

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Paternal bias in parental origin of HRAS mutations in Costello syndrome

Human mutation, 2006-08, Vol.27 (8), p.736-741

2006

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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.706-716

2011

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

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

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Somatic mosaicism for an HRAS mutation causes Costello syndrome

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation1

Longitudinal assessment of cognitive characteristics in Costello syndrome

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Medically actionable comorbidities in adults with Costello syndrome

Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

Plasma Membrane Ca2+-ATPase 4 in Murine Epididymis: Secretion of Splice Variants in the Luminal Fluid and a Role in Sperm Maturation

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

Assessing genotype–phenotype correlation in Costello syndrome using a severity score

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

Paternal bias in parental origin of HRAS mutations in Costello syndrome

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

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