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American Journal of Medical Genetics. Part A|May 4, 2023
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?Ashley Moller-Hansen, Duha Hejla, Hyun Kyung Lee, et al.
Journal of Biomolecular Screening|August 14, 2014
Identification of a putative Tdp1 inhibitor (CD00509) by in vitro and cell-based assaysRichard A Dean, Hok Khim Fam, Jianghong An, et al.
Prenatal Diagnosis|September 7, 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelinesMelissa Cornthwaite, Kelly Turner, Linlea Armstrong, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|October 17, 2014
Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysisSanjay Sarin, Ashkan Javidan, Felix Boivin, et al.
Pediatric Research|August 27, 2015
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasiaMarie Morimoto, Karen J Wang, Zhongxin Yu, et al.
American Journal of Medical Genetics. Part A|May 21, 2021
An approach to rapid characterization of DMD copy number variants for prenatal risk assessmentHui-Lin Chin, Kieran O'Neill, Kristal Louie, et al.
Annals of Neurology|February 26, 2003
CMT4A: identification of a Hispanic GDAP1 founder mutationCornelius F Boerkoel, Hiroshi Takashima, Masanori Nakagawa, et al.
European Journal of Medical Genetics|January 22, 2022
Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?Hui-Lin Chin, Susan Lin, Joshua Dalmann, et al.
American Journal of Medical Genetics. Part A|January 24, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysisDuha Hejla, Stephanie Huynh, Simran Samra, et al.
BMC Genomics|November 26, 2015
Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing dataPraveen F Cherukuri, Valerie Maduro, Karin V Fuentes-Fajardo, et al.
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