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Genome Medicine|January 8, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defectsGregor Dombrowsky, Liselot van der Laan, Ananília Silva, et al.
Birth Defects Research|February 27, 2024
Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017Marcia L Feldkamp, Mark A Canfield, Sergey Krikov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
American Journal of Human Genetics|September 3, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
Brain : a Journal of Neurology|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.
American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.
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