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European Journal of Medical Genetics|December 27, 2008
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndromeJirair K Bedoyan, Michael J Friez, Barbara DuPont, et al.
Neoplasia (New York, N.Y.)|April 25, 2016
Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case ReportVeronica Ortega, Alka Chaubey, Christina Mendiola, et al.
HGG Advances|October 3, 2022
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomesPeining Li, Barbara Dupont, Qiping Hu, et al.
Genes|March 25, 2022
Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental FactorsLuigi Boccuto, Andrew Mitz, Ludovico Abenavoli, et al.
Molecular and Cellular Endocrinology|March 20, 2003
Cloning and expression of a novel, truncated, progesterone receptorKarla J Saner, Brenda H Welter, Fan Zhang, et al.
Clinical Genetics|October 12, 2018
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphismLuigi Boccuto, Ludovico Abenavoli, Lauren Cascio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2015
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disabilityRolph Pfundt, Kat Kwiatkowski, Alan Roter, et al.
Clinical Genetics|February 23, 2025
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual DisabilityPo-Nien Lu, Chandler Melton, Barbara Dupont, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridizationAguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl J Franek, Julia Butler, John Johnson, et al.
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