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Classification, Epidemiology, and Genetics of Orofacial Clefts

Clinics in plastic surgery, 2014-04, Vol.41 (2), p.149-163

2014

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.536-548

2013

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Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the national birth defects prevention study

Environmental health perspectives, 2014-08, Vol.122 (8), p.863-872

2014

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genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (29), p.12031-12036

2009

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Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

PloS one, 2009-08, Vol.4 (8), p.e6568

2009

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Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring

American journal of epidemiology, 2017-09, Vol.186 (6), p.719-729

2017

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.754-761

2012

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487

2015

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Genetics in medicine, 2007-09, Vol.9 (9), p.607-616

2007

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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.333-339

2010

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Genetics of hemangiomas, vascular malformations, and primary lymphedema

Journal of pediatric hematology/oncology, 2014-11, Vol.36 (8), p.587-593

2014

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

HGG advances, 2023-07, Vol.4 (3), p.100213-100213, Article 100213

2023

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Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.825-837

2016

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De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

American journal of human genetics, 2019-08, Vol.105 (2), p.425-433

2019

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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

The Journal of pediatrics, 2019-06, Vol.209, p.68-76

2019

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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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X-linked situs abnormalities result from mutations in ZIC3

Nature genetics, 1997-11, Vol.17 (3), p.305-308

1997

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Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period

Birth defects research. A Clinical and molecular teratology, 2016-11, Vol.106 (11), p.935-939

2016

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The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

Journal of autism and developmental disorders, 2012-10, Vol.42 (10), p.2121-2140

2012

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

American journal of human genetics, 2020-08, Vol.107 (2), p.293-310

2020

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Diagnosis of Human Congenital Cytomegalovirus Infection by Amplification of Viral DNA from Dried Blood Spots on Perinatal Cards

The Journal of molecular diagnostics : JMD, 2006-05, Vol.8 (2), p.240-245

2006

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.754-761

2012

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Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2024-2027

2018

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Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1846-1856

2019

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Classification, Epidemiology, and Genetics of Orofacial Clefts

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the national birth defects prevention study

genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome

Genetics of hemangiomas, vascular malformations, and primary lymphedema

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

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

X-linked situs abnormalities result from mutations in ZIC3

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Diagnosis of Human Congenital Cytomegalovirus Infection by Amplification of Viral DNA from Dried Blood Spots on Perinatal Cards

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1

Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study

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