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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

American journal of human genetics, 2012-05, Vol.90 (5), p.925-933

2012

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Choanal Atresia and Craniosynostosis: Development and Disease

Plastic and reconstructive surgery (1963), 2018-01, Vol.141 (1), p.156-168

2018

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Roberts syndrome is caused by mutations in ESCO2 , a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Nature genetics, 2005-05, Vol.37 (5), p.468-470

2005

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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American journal of human genetics, 2012-07, Vol.91 (1), p.171-179

2012

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Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling

1, 2023

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The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect

PLoS genetics, 2009-07, Vol.5 (7), p.e1000558-e1000558

2009

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Exome sequencing identifies the cause of a mendelian disorder

Nature genetics, 2010-01, Vol.42 (1), p.30-35

2010

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Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.361-371

2007

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Neonatal outcomes during the COVID-19 pandemic in New York City

Pediatric research, 2022-02, Vol.91 (3), p.477-479

2022

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Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis

Cell reports (Cambridge), 2020-07, Vol.32 (1), p.107871-107871, Article 107871

2020

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Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997–2011

Paediatric and perinatal epidemiology, 2022-11, Vol.36 (6), p.782-791

2022

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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Human mutation, 2009-05, Vol.30 (5), p.724-733

2009

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Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation

PloS one, 2012-04, Vol.7 (4), p.e35826-e35826

2012

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Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

International journal of environmental research and public health, 2024-05, Vol.21 (5), p.615

2024

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Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome

American journal of medical genetics. Part A, 2023-11, Vol.191 (11), p.2743-2748

2023

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Cleft Palate in Apert Syndrome

Journal of developmental biology, 2022-08, Vol.10 (3), p.33

2022

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Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 ( BBS9 ) deletion

Npj genomic medicine, 2018-01, Vol.3 (1), p.3-5, Article 3

2018

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C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model

PloS one, 2018-07, Vol.13 (7), p.e0201492-e0201492

2018

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Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

Plastic and reconstructive surgery (1963), 2016-03, Vol.137 (3), p.952-961

2016

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FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models

PloS one, 2011-10, Vol.6 (10), p.e26425-e26425

2011

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Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

Bone (New York, N.Y.), 2014-06, Vol.63, p.101-109

2014

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Nature genetics, 2004-03, Vol.36 (3), p.228-230

2004

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Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach

The Cleft palate-craniofacial journal, 2016-01, Vol.53 (1), p.126-131

2016

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Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice

Disease models & mechanisms, 2019-05, Vol.12 (5)

2019

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Choanal Atresia and Craniosynostosis: Development and Disease

Roberts syndrome is caused by mutations in ESCO2 , a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect

Exome sequencing identifies the cause of a mendelian disorder

Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome

Neonatal outcomes during the COVID-19 pandemic in New York City

Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis

Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997–2011

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome

Cleft Palate in Apert Syndrome

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 ( BBS9 ) deletion

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models

Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice

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