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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104

2018

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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Pediatric research, 2020-03, Vol.87 (4), p.735-739

2020

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Telomere Protection by TPP1 Is Mediated by POT1a and POT1b

Molecular and Cellular Biology, 2010-02, Vol.30 (4), p.1059-1066

2010

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MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-06, Vol.175 (2), p.253-259

2017

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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

American journal of human genetics, 2003-02, Vol.72 (2), p.408-418

2003

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Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Current genomics, 2016-02, Vol.17 (1), p.4-13

2016

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Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5‐alpha reductase type 2 deficiency

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-06, Vol.175 (2), p.260-267

2017

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TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis

JCI insight, 2021-05, Vol.6 (9)

2021

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An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy

Journal of clinical medicine, 2022-07, Vol.11 (15), p.4408

2022

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Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression

PLoS genetics, 2013-02, Vol.9 (2), p.e1003205

2013

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The shelterin complex and hematopoiesis

The Journal of clinical investigation, 2016-05, Vol.126 (5), p.1621-1629

2016

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Trainee perspectives of COVID-19 impact on medical genetics education

Genetics in medicine, 2021-05, Vol.23 (5), p.956-962

2021

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Aged PROP1 deficient dwarf mice maintain ACTH production

PloS one, 2011-12, Vol.6 (12), p.e28355-e28355

2011

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Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics

Journal of health and social behavior, 2018-12, Vol.59 (4), p.520-535

2018

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Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

Journal of medical genetics, 2024-03, Vol.61 (3), p.289-293

2024

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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome

Human molecular genetics, 2016-02, Vol.25 (3), p.597-608

2016

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Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

Neurology, 2020-07, Vol.95 (4), p.184-187

2020

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

American journal of human genetics, 2015-12, Vol.97 (6), p.922-932

2015

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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Genes & development, 2014-10, Vol.28 (19), p.2090-2102

2014

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Gender destinies: assigning gender in Disorders of Sex Development‐Intersex clinics

Sociology of health & illness, 2019-11, Vol.41 (8), p.1520-1534

2019

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Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth’s short tail mice

Human molecular genetics, 2019-03, Vol.28 (5), p.736-750

2019

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High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype

Gene, 2018-12, Vol.679, p.219-231

2018

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Development of a decision support tool in pediatric Differences/Disorders of Sex Development

Seminars in pediatric surgery, 2019-10, Vol.28 (5), p.150838-150838, Article 150838

2019

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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Telomere Protection by TPP1 Is Mediated by POT1a and POT1b

MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5‐alpha reductase type 2 deficiency

TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression

The shelterin complex and hematopoiesis

Trainee perspectives of COVID-19 impact on medical genetics education

Aged PROP1 deficient dwarf mice maintain ACTH production

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Gender destinies: assigning gender in Disorders of Sex Development‐Intersex clinics

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth’s short tail mice

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype

Development of a decision support tool in pediatric Differences/Disorders of Sex Development

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

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