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American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Neurology|April 8, 2016
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomaliesHelen Dolk, Hao Wang, Maria Loane, et al.
Orphanet Journal of Rare Diseases|March 30, 2022
Survival of children with rare structural congenital anomalies: a multi-registry cohort studyAlessio Coi, Michele Santoro, Anna Pierini, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry studyJoan K Morris, Ester Garne, Diana Wellesley, et al.
BMJ (Clinical Research Ed.)|November 26, 2015
Long term trends in prevalence of neural tube defects in Europe: population based studyBabak Khoshnood, Maria Loane, Hermien de Walle, et al.
American Journal of Medical Genetics. Part A|September 9, 2015
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011Anna Springett, Diana Wellesley, Ruth Greenlees, et al.
Paediatric and Perinatal Epidemiology|October 11, 2023
Risk factors for mortality in infancy and childhood in children with major congenital anomalies: A European population-based cohort studyJoachim Tan, Svetlana V Glinianaia, Judith Rankin, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
European Journal of Medical Genetics|May 13, 2018
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT studyEster Garne, Anke Rissmann, Marie-Claude Addor, et al.
Birth Defects Research|May 6, 2026
Sirenomelia: A Review of European Prevalence Data and Epidemiological Analysis of 17 Cases Registered in WalesChris Emmerson, Michael Olson, Ceri Williams, et al.
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