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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Reproductive Toxicology (Elmsford, N.Y.)|June 2, 2005
Preventing neural tube defects in Europe: a missed opportunityAraceli Busby, Lenore Abramsky, Helen Dolk, et al.
American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.
Frontiers in Genetics|May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 IndividualsJulián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Clinical Genetics|January 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers SyndromeLaura Trujillano, Irene Valenzuela, Mar Costa-Roger, et al.
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