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The Journal of Pediatrics|September 20, 2016
Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15BSaeed Mohammad, Lynne A Wolfe, Petra Stöbe, et al.Birth Defects Research|October 28, 2020
Identifying environmental risk factors and gene-environment interactions in holoprosencephalyYonit A Addissie, Angela Troia, Zoe C Wong, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|September 9, 2014
Analysis of renal anomalies in VACTERL associationBridget K Cunningham, Alina Khromykh, Ariel F Martinez, et al.Journal of Neonatal-Perinatal Medicine|September 30, 2011
Trisomy 21 in one of extremely low birth weight twinsBenjamin D Solomon, Divya Balachandar, Karen Perry, et al.Human Mutation|January 30, 2009
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanismErich Roessler, Felicitas Lacbawan, Christèle Dubourg, et al.Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
Artificial Intelligence-Based Chatbots in Genetic Counseling Practice: Current Uptake, Utilization, and PerspectivesNicole Daley, Alyssa Griswold, Laura Moreno, et al.Molecular Genetics and Metabolism|September 12, 2006
Functional analysis of mutations in TGIF associated with holoprosencephalyKenia B El-Jaick, Shannon E Powers, Laurent Bartholin, et al.Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.American Journal of Human Genetics|October 22, 2004
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11Mauricio Arcos-Burgos, F Xavier Castellanos, David Pineda, et al.Attention Deficit and Hyperactivity Disorders|September 27, 2012
Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controlsMauricio Arcos-Burgos, Ana C Londoño, David A Pineda, et al.Pageof 29