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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

The New England journal of medicine, 2013-05, Vol.368 (19), p.1809-1816

2013

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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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Mutations in PIK3R1 Cause SHORT Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.158-166

2013

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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819

2008

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Nature genetics, 2007-01, Vol.39 (1), p.75-79

2007

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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

American journal of human genetics, 2012-03, Vol.90 (3), p.550-557

2012

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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Nature genetics, 2012-11, Vol.44 (11), p.1249-1254

2012

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Redefining the Etiologic Landscape of Cerebellar Malformations

American journal of human genetics, 2019-09, Vol.105 (3), p.606-615

2019

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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

American journal of human genetics, 2021-10, Vol.108 (10), p.2017-2023

2021

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Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

Nature genetics, 1997-09, Vol.17 (1), p.104-108

1997

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Congenital abnormalities among children with cerebral palsy: More evidence for prenatal antecedents

The Journal of pediatrics, 2001-06, Vol.138 (6), p.804-810

2001

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

American journal of human genetics, 2023-02, Vol.110 (2), p.215-227

2023

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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome

The New England journal of medicine, 1984-10, Vol.311 (16), p.1010-1015

1984

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Retinoic acid embryopathy

The New England journal of medicine, 1985-10, Vol.313 (14), p.837-841

1985

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Mental Retardation: Diagnosis, Management, and Family Support

Current problems in pediatric and adolescent health care, 2006-04, Vol.36 (4), p.126-165

2006

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

American journal of human genetics, 2005-04, Vol.76 (4), p.609-622

2005

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Mutations in the TGF-[Beta] repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Nature genetics, 2012-11, Vol.44 (11), p.1249

2012

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Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Nature genetics, 2007-02, Vol.39 (2), p.276-276

2007

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Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Nature genetics, 2007-02, Vol.39 (2), p.276-276

2007

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Thrombophilic Factors in Neonatal Stroke

Pediatric research, 1999-04, Vol.45 (4, Part 2 of 2), p.340-340A

1999

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Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations

American journal of human genetics, 2005, Vol.76 (4), p.609-622

2005

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Book Review DNA: Promise and Peril By Linda L. McCabe and Edward R.B. McCabe. 339 pp., illustrated. Berkeley, University of California Press, 2008. $39.95. 978-0-520-25187-8

New England Journal of Medicine, 2008, Vol.359 (17), p.1857-1858

Curry, Cynthia J.

2008

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

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

Mutations in PIK3R1 Cause SHORT Syndrome

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Redefining the Etiologic Landscape of Cerebellar Malformations

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

Congenital abnormalities among children with cerebral palsy: More evidence for prenatal antecedents

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome

Retinoic acid embryopathy

Mental Retardation: Diagnosis, Management, and Family Support

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Mutations in the TGF-[Beta] repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Thrombophilic Factors in Neonatal Stroke

Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations

Book Review DNA: Promise and Peril By Linda L. McCabe and Edward R.B. McCabe. 339 pp., illustrated. Berkeley, University of California Press, 2008. $39.95. 978-0-520-25187-8

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