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ADHD and its neurocognitive substrates: A two sample Mendelian randomization study

Translational psychiatry, 2022-09, Vol.12 (1), p.378-7, Article 378

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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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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TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Genes, 2022-09, Vol.13 (9), p.1649

2022

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Idiopathic scoliosis : Identification of candidate regions on chromosome 19p13

Spine (Philadelphia, Pa. 1976), 2006-07, Vol.31 (16), p.1815-1819

2006

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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Genes, 2022-05, Vol.13 (5), p.816

2022

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Identification of candidate regions for familial idiopathic scoliosis

Spine (Philadelphia, Pa. 1976), 2005-05, Vol.30 (10), p.1181-1187

2005

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Males With Familial Idiopathic Scoliosis: A Distinct Phenotypic Subgroup

Spine (Philadelphia, Pa. 1976), 2010-01, Vol.35 (2), p.162-168

2010

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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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Sequencing of the TBX6 Gene in Families With Familial Idiopathic Scoliosis

Spine deformity, 2015-07, Vol.3 (4), p.288-296

2015

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Lack of association between the aggrecan gene and familial idiopathic scoliosis

Spine (Philadelphia, Pa. 1976), 2006-06, Vol.31 (13), p.1420-1425

2006

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Genetic associations with childhood brain growth, defined in two longitudinal cohorts

Genetic epidemiology, 2018-06, Vol.42 (4), p.405-414

2018

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A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non‐coding element

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2893-2897

2017

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CHD7 Gene Polymorphisms and Familial Idiopathic Scoliosis

Spine (Philadelphia, Pa. 1976), 2013-10, Vol.38 (22), p.E1432-E1436

2013

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Cover Image, Volume 173A, Number 11, November 2017

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.i-i

2017

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Identification of susceptibility loci for scoliosis in FIS families with triple curves

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.846-855

2010

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Type I error rates of rare single nucleotide variants are inflated in tests of association with non-normally distributed traits using simple linear regression methods

BMC proceedings, 2016, Vol.10 (Suppl 7), p.385-388, Article 62

2016

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Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat

Journal of molecular evolution, 2001-03, Vol.52 (3), p.232-238

2001

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Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Annals of neurology, 1997-05, Vol.41 (5), p.675-682

1997

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Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

Human heredity, 2012-01, Vol.74 (1), p.36-44

2012

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Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1059-1068

2006

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A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

Human genetics, 2003-07, Vol.113 (1), p.1-9

2003

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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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ITBX3/I and IEFNA4/I Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Genes, 2022-09, Vol.13 (9)

2022

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ADHD and its neurocognitive substrates: A two sample Mendelian randomization study

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

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

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Idiopathic scoliosis : Identification of candidate regions on chromosome 19p13

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Identification of candidate regions for familial idiopathic scoliosis

Males With Familial Idiopathic Scoliosis: A Distinct Phenotypic Subgroup

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

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

Sequencing of the TBX6 Gene in Families With Familial Idiopathic Scoliosis

Lack of association between the aggrecan gene and familial idiopathic scoliosis

Genetic associations with childhood brain growth, defined in two longitudinal cohorts

A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non‐coding element

CHD7 Gene Polymorphisms and Familial Idiopathic Scoliosis

Cover Image, Volume 173A, Number 11, November 2017

Identification of susceptibility loci for scoliosis in FIS families with triple curves

Type I error rates of rare single nucleotide variants are inflated in tests of association with non-normally distributed traits using simple linear regression methods

Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

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

ITBX3/I and IEFNA4/I Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

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