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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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Expanding Genetic Counselor Roles: A Model for Global Research Development

Genes, 2024-07, Vol.15 (7), p.867

2024

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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2926-2938

2020

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PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism

Epilepsy research, 2018-09, Vol.145, p.89-92

2018

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

American journal of human genetics, 2019-11, Vol.105 (5), p.987-995

2019

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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Molecular autism, 2021-10, Vol.12 (1), p.69-69, Article 69

2021

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The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3416-3422

2022

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-16

2024

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Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2144-2151

2019

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3273-3288

2023

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Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Genetics in medicine, 2023-07, Vol.25 (7), p.100861, Article 100861

2023

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Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1486-1493

2021

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Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

European journal of medical genetics, 2017-11, Vol.60 (11), p.565-571

2017

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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.542-551

2019

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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1543-1546

2019

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Growth curves for height in Noonan syndrome

Clinical genetics, 1986-09, Vol.30 (3), p.150-153

1986

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FRYNS SYNDROME: FURTHER DELINEATION AND ANTENATAL DIAGNOSIS

Pediatric research, 1987-04, Vol.21 (4), p.224-224A

1987

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Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

American journal of medical genetics, 1989-01, Vol.32 (1), p.93-99

1989

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A Randomized Trial of Long-Term Oxygen for COPD with Moderate Desaturation

The New England journal of medicine, 2016-10, Vol.375 (17), p.1617-1627

2016

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Guidelines for the diagnosis and treatment of malignant pleural mesothelioma

Journal of thoracic disease, 2013-12, Vol.5 (6), p.E254-E307

2013

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Expanding Genetic Counselor Roles: A Model for Global Research Development

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Growth curves for height in Noonan syndrome

FRYNS SYNDROME: FURTHER DELINEATION AND ANTENATAL DIAGNOSIS

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

A Randomized Trial of Long-Term Oxygen for COPD with Moderate Desaturation

Guidelines for the diagnosis and treatment of malignant pleural mesothelioma

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