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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

American journal of human genetics, 2012-02, Vol.90 (2), p.175-200

2012

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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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“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders

American Journal of Psychiatry, 2013-06, Vol.170 (6), p.599-608

2013

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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

American journal of human genetics, 2011-07, Vol.89 (1), p.67-81

2011

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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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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Nature genetics, 2014-08, Vol.46 (8), p.912-918

2014

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Clinical genetics of craniosynostosis

Current opinion in pediatrics, 2017-12, Vol.29 (6), p.622-628

2017

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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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Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

The Journal of pediatrics, 2013-03, Vol.162 (3), p.612-617

2013

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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Genome research, 2018-12, Vol.28 (12), p.1779-1790

2018

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Nature genetics, 2000-08, Vol.25 (4), p.419-422

2000

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Nature genetics, 2000-04, Vol.24 (4), p.387-390

2000

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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Nature genetics, 2000-03, Vol.24 (3), p.275-278

2000

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

American journal of human genetics, 2016-08, Vol.99 (2), p.392-406

2016

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Nature genetics, 2009-11, Vol.41 (11), p.1247-1252

2009

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The Drosophila homologue of MEGF8 is essential for early development

Scientific reports, 2018-06, Vol.8 (1), p.8790-10, Article 8790

2018

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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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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Nature genetics, 1995-02, Vol.9 (2), p.132-140

1995

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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

American journal of human genetics, 2014-02, Vol.94 (2), p.295-302

2014

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Nature genetics, 2001-01, Vol.27 (1), p.17-18

2001

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Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

American journal of human genetics, 2012-11, Vol.91 (5), p.897-905

2012

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Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

Nature genetics, 2009-08, Vol.41 (8), p.862-863

2009

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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

A Genetic-Pathophysiological Framework for Craniosynostosis

“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

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

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Clinical genetics of craniosynostosis

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

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

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

Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

The Drosophila homologue of MEGF8 is essential for early development

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

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

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