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American Journal of Medical Genetics. Part A|July 2, 2003
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrumFrancesca De Falco, Silvia Cainarca, Grazia Andolfi, et al.American Journal of Human Genetics|June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal HyperparathyroidismYoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.Genomics|February 7, 2002
Molecular genetic studies of human chromosome 7 in Russell-Silver syndromeKazuhiko Nakabayashi, Bridget A Fernandez, Ikuko Teshima, et al.American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.The Journal of Clinical Endocrinology and Metabolism|June 14, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic FindingsNina Lenherr-Taube, Edwin J Young, Michelle Furman, et al.Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.Journal of Medical Genetics|May 18, 2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient populationGail Billingsley, Jenea Bin, Karen J Fieggen, et al.American Journal of Medical Genetics. Part A|February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathySarah C Harris, Karen Chong, David Chitayat, et al.Circulation|May 29, 2019
Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great ArteriesJessie Mei Lim, Prashob Porayette, Davide Marini, et al.American Journal of Human Genetics|July 23, 2026
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignaturesNikola Reko, Arteen Torabi-Marashi, Prajkta Kallurkar, et al.Pageof 53