Congenital Disorders

Congenital Disorders is a medical condition present at birth that results from genetic, environmental, or unknown factors affecting fetal development during gestation.

18.1K

Publications

855.3K

Citations

61.5K

Authors

7.3K

Institutions

Publications per year

2017–2026

1.9K

Variants

Congenital Defects

Parents

Infant HealthPathophysiologyPediatric Care

Children

Congenital Infection SyndromesCongenital Kidney DisordersCongenital Metabolic DisordersCongenital Skeletal DisordersFamilial Recurrence Risk

Publications

18.1K

Rate of de novo mutations and the importance of father’s age to disease risk

Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations

Life Sciences, Genetics, Molecular Genetics +12

Genetic heterogeneity in osteogenesis imperfecta.

David Sillence, A Senn, D. M. Danks · Journal of Medical Genetics · 1979 · 2.2K citations · Full text

Medicine, Genetics, Bone Metabolism +16

Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006

Samantha E. Parker, Mark A. Canfield, Russel Rickard et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2010 · 1.9K citations

Public Health, Maternal Health, Population Health Sciences +16

Maternal Pesticide Exposure from Multiple Sources and Selected Congenital Anomalies

Gary M. Shaw, Cathy R. Wasserman, Cynthia D. O’Malley et al. · Epidemiology · 1999 · 1.8K citations

Public Health, Maternal Health, Obstetrics +17

Regression Towards Mediocrity in Hereditary Stature.

Francis Galton · The Journal of the Anthropological Institute of Great Britain and Ireland · 1886 · 1.4K citations · Full text

Life Sciences, Genetics, Pediatrics +9

1–5 of 18.1K

Authors

61.5K

JM
John M. Opitz
University of Wisconsin–Madison, United States
197 publications · 9.6K citations
56
h-index
JF
James F. Reynolds
Duke University, United States
147 publications · 6.7K citations
45
h-index
KH
K. H. Nicolaides
Harris Birthright Research Centre for Fetal Medicine, United Kingdom
62 publications · 6.5K citations
45
h-index
JR
Judith Rankin
Newcastle University, United Kingdom
46 publications · 4.7K citations
38
h-index
EG
Ester Garne
Lillebaelt Hospital, Denmark
54 publications · 5.9K citations
38
h-index

1–5 of 61.5K

Institutions

7.3K

1–8 of 7.3K

Venues

PubMed
Repository · 1.6K publications · 54K citations
95
h-index
American Journal of Medical Genetics
895 publications · 41K citations
91
h-index
The Journal of Pediatrics
419 publications · 27.4K citations
86
h-index
Journal of Medical Genetics
JMG · 476 publications · 28.2K citations
81
h-index
PEDIATRICS
310 publications · 23K citations
81
h-index

1–5