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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

American journal of human genetics, 2007-06, Vol.80 (6), p.1162-1170

2007

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

American journal of human genetics, 2016-08, Vol.99 (2), p.253-274

2016

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Nature communications, 2023-02, Vol.14 (1), p.853-11, Article 853

2023

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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Human genetics, 2020-08, Vol.139 (8), p.1077-1090

2020

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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.615-627

2019

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390-395

2006

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Human mutation, 2016-02, Vol.37 (2), p.148-154

2016

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Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2706-2710

2016

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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Genetics in Medicine Open, 2023-09, Vol.25 (9), p.100883-100883, Article 100883

2023

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Diagnostic value of exome and whole genome sequencing in craniosynostosis

Journal of medical genetics, 2017-04, Vol.54 (4), p.260

2017

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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

American journal of human genetics, 2006-06, Vol.78 (6), p.999-1010

2006

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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

Nature neuroscience, 2019-02, Vol.22 (2), p.205

2019

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506

2020

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368

2021

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

Journal of anatomy, 2024-05

2024

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.296-312

2015

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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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Dissection of contiguous gene effects for deletions around ERF on chromosome 19

Human mutation, 2021-07, Vol.42 (7), p.811-817

2021

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genetics in medicine, 2020-05, Vol.22 (5), p.878-888

2020

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567

2020

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genetics in medicine, 2020-04, Vol.22 (4), p.822-822

2020

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

American journal of human genetics, 2020-07, Vol.107 (1), p.164-172

2020

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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1 -related disorders

Journal of medical genetics, 2022-02, Vol.59 (2), p.165

2022

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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Diagnostic value of exome and whole genome sequencing in craniosynostosis

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

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

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1 -related disorders

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