Methods and applications of in vivo CRISPR screening
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Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Machine learning reveals complex genetics of fungal resistance in sorghum grain mold
Ackerman A, Wenndt A, Boyles R (2021) The sorghum grain mold disease complex: pathogens, host responses, and the…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
Genetic and oncogenic features of RASGRF fusions
Prevalence of RASGRF fusions in solid tumor malignancies We previously reported three RASGRF1 fusions: (1) an OCLN–RASGRF1 fusion…
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review | Orphanet Journal of Rare Diseases
Clinical phenotypes of two patients with apparent homozygous mutations Patient 1: A 4-month-old boy from a non-consanguineous Chinese…
Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches
Nakamori, M & Takahashi, MP Myotonic dystrophy. In: Takeda S, Miyagoe-Suzuki Y, Mori-Yoshimura M, editors. Translational research in…
How chemotherapy shapes hematopoietic stem cells
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