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American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Chest|March 11, 2026
Effects of a Novel Dual Phosphodiesterase 3 and 4 Inhibitor TQC3721 in Patients with COPD in China (PACER-II): a phase 2, multicentre, randomised, double-blind, placebo-controlled trialLi-Xiu He, Ling Yang, Zu-Ke Xiao, et al.
Cell|March 5, 2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, et al.
Neuron|April 20, 2022
Glutamatergic synapses from the insular cortex to the basolateral amygdala encode observational painMing-Ming Zhang, An-Qi Geng, Kun Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
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