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A Genetic-Pathophysiological Framework for Craniosynostosis

American journal of human genetics, 2015-09, Vol.97 (3), p.359-377

2015

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New insights into craniofacial malformations

Human molecular genetics, 2015-10, Vol.24 (R1), p.R50-R59

2015

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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

The Journal of experimental medicine, 2017-09, Vol.214 (9), p.2547-2562

2017

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Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

American journal of human genetics, 2012-07, Vol.91 (1), p.193-201

2012

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Nature genetics, 2015-07, Vol.47 (7), p.717-726

2015

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Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

American journal of human genetics, 2016-07, Vol.99 (1), p.139-153

2016

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265

2016

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A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

American journal of human genetics, 2014-01, Vol.94 (1), p.120-128

2014

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

American journal of human genetics, 2024-09, Vol.111 (9), p.1953-1969

2024

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

American journal of human genetics, 2015-09, Vol.97 (3), p.378-388

2015

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Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Human mutation, 2018-10, Vol.39 (10), p.1360-1365

2018

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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

American journal of human genetics, 2009-05, Vol.84 (5), p.698-705

2009

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Human molecular genetics, 2013-04, Vol.22 (8), p.1654-1662

2013

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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis

Human mutation, 2016-08, Vol.37 (8), p.732-736

2016

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Hearing loss in a mouse model of Muenke syndrome

Human molecular genetics, 2009-01, Vol.18 (1), p.43-50

2009

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Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

Human mutation, 2011-08, Vol.32 (8), p.930-938

2011

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Functional analysis of natural mutations in two TWIST protein motifs

Human mutation, 2005-06, Vol.25 (6), p.550-556

2005

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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.446-461

1999

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Conserved Use of a Non-Canonical 5′ Splice Site (/GA) in Alternative Splicing by Fibroblast Growth Factor Receptors 1, 2 and 3

Human molecular genetics, 1998-04, Vol.7 (4), p.685-691

1998

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A Genetic-Pathophysiological Framework for Craniosynostosis

New insights into craniofacial malformations

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis

Hearing loss in a mouse model of Muenke syndrome

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Functional analysis of natural mutations in two TWIST protein motifs

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

Conserved Use of a Non-Canonical 5′ Splice Site (/GA) in Alternative Splicing by Fibroblast Growth Factor Receptors 1, 2 and 3

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