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American Journal of Medical Genetics. Part A|May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndromeAnnabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.
American Journal of Medical Genetics. Part A|October 6, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey diseaseJia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, et al.
American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Human and computer attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
BMJ Open|February 10, 2026
Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to careLeah Ratner, Diana Marangu-Boore, Samia Hamouda, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
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