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Human Molecular Genetics|May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.Journal of Medical Genetics|March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletionsAnn M Joseph-George, Yongshu He, Christian R Marshall, et al.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.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.Pediatrics|October 10, 2012
Factors influencing participation in a population-based biorepository for childhood heart diseaseTanya Papaz, Mina Safi, Ashok-Kumar Manickaraj, et al.Pageof 45