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American Journal of Human Genetics|October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research StudiesLaura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal ModelingNathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, et al.
The Journal of Clinical Investigation|February 27, 2018
Pharmacological targeting of MYC-regulated IRE1/XBP1 pathway suppresses MYC-driven breast cancerNa Zhao, Jin Cao, Longyong Xu, et al.
Acta Neuropathologica Communications|June 2, 2016
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic studyDonato Iacovazzo, Richard Caswell, Benjamin Bunce, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
The Journal of Clinical Investigation|January 10, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypesBo Yuan, Davut Pehlivan, Ender Karaca, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
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