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Genetic advances in craniosynostosis

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1406-1429

2017

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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

American journal of human genetics, 2015-03, Vol.96 (3), p.432-439

2015

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The genetic overlap between osteoporosis and craniosynostosis

Frontiers in endocrinology (Lausanne), 2022-09, Vol.13, p.1020821-1020821

2022

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Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

Nature communications, 2023-11, Vol.14 (1), p.7436-7436, Article 7436

2023

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Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

Frontiers in genetics, 2024-06, Vol.15, p.1266210

2024

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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

Scientific reports, 2024-04, Vol.14 (1), p.8533-11, Article 8533

2024

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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Nature genetics, 2006-10, Vol.38 (10), p.1192-1197

2006

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Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.247-253

2005

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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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Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior

PloS one, 2011-10, Vol.6 (10), p.e25990-e25990

2011

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Muenke syndrome: An international multicenter natural history study

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.918-929

2016

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SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum

The Journal of biological chemistry, 2012-03, Vol.287 (13), p.10134-10144

2012

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Bladder exstrophy-epispadias complex

Birth defects research. A Clinical and molecular teratology, 2009-06, Vol.85 (6), p.509-522

2009

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Genetics of Craniosynostosis

Seminars in pediatric neurology, 2007-09, Vol.14 (3), p.150-161

2007

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Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Genetics in medicine, 2014-04, Vol.16 (4), p.302-310

2014

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Identification of differentially expressed proteins between fused and open sutures in sagittal nonsyndromic craniosynostosis during suture development by quantitative proteomic analysis

Proteomics (Weinheim), 2021-05, Vol.15 (2-3), p.e2000031-n/a

2021

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ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Human mutation, 2012-12, Vol.33 (12), p.1626-1629

2012

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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.534-544

2019

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Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum

Traffic (Copenhagen, Denmark), 2022-01, Vol.23 (1), p.81-93

2022

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Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 families

BJU international, 2004-12, Vol.94 (9), p.1337-1343

2004

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Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Bone (New York, N.Y.), 2020-08, Vol.137, p.115395-115395, Article 115395

2020

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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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A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.36-40

2005

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Genetic advances in craniosynostosis

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

The genetic overlap between osteoporosis and craniosynostosis

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images

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

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior

Muenke syndrome: An international multicenter natural history study

SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum

Bladder exstrophy-epispadias complex

Genetics of Craniosynostosis

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Identification of differentially expressed proteins between fused and open sutures in sagittal nonsyndromic craniosynostosis during suture development by quantitative proteomic analysis

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial

Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum

Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 families

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

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

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

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

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