Follow
Bo Yuan
Bo Yuan
Verified email at bcm.edu
Title
Cited by
Year
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
E Venner, K Patterson, D Kalra, MM Wheeler, YJ Chen, SE Kalla, B Yuan, ...
Communications Biology 7 (1), 174, 2024
52024
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
192023
Neurogenetic disorders: from the tests to the clinic
S Mao, C Li, B Yuan, L Yu, H Shang
Frontiers in Neurology 14, 1236350, 2023
2023
Phenotypic Variability of SOCS1 Haploinsufficiency
RC Hale, N Owen, B Yuan, IK Chinn, ...
Journal of Clinical Immunology 43 (5), 902-906, 2023
32023
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8; 21 translocation with interstitial telomeric sequences
W Bi, B Yuan, P Liu, JB Murry, X Qin, F Xia, T Quach, LM Cooper, ...
Journal of medical genetics 60 (6), 547-556, 2023
2023
Genetics in medicine open to us all
B Yuan
Genetics in Medicine Open 1 (1), 2023
12023
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay
H Dai, W Zhu, B Yuan, N Walley, K Schoch, YH Jiang, JA Phillips, ...
Human mutation 43 (12), 1816-1823, 2022
2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
H Du, A Jolly, CM Grochowski, B Yuan, M Dawood, SN Jhangiani, H Li, ...
Genome Medicine 14 (1), 122, 2022
52022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
B Yuan, KV Schulze, N Assia Batzir, J Sinson, H Dai, W Zhu, F Bocanegra, ...
Genome Medicine 14 (1), 113, 2022
42022
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
CA Chen, J Lattier, W Zhu, J Rosenfeld, L Wang, TM Scott, H Du, V Patel, ...
Genetics in Medicine 24 (2), 364-373, 2022
142022
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
V Okur, Z Chen, L Vossaert, S Peacock, J Rosenfeld, L Zhao, H Du, ...
NPJ Genomic Medicine 6 (1), 104, 2021
102021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
L Wang, P Liu, W Bi, T Sim, X Wang, M Walkiewicz, MS Leduc, L Meng, ...
Molecular Genetics & Genomic Medicine 9 (11), e1792, 2021
32021
Complicated diagnosis and treatment of HA20 due to contiguous gene deletions involving 6q23. 3
CW Wu, G Sasa, A Salih, S Nicholas, TP Vogel, G Cahill, HS Kuehn, ...
Journal of Clinical Immunology 41 (6), 1420-1423, 2021
42021
Immune dysregulation mimicking systemic lupus erythematosus in a patient with lysinuric protein intolerance: case report and review of the literature
JL Contreras, MA Ladino, K Aránguiz, GP Mendez, Z Coban-Akdemir, ...
Frontiers in Pediatrics 9, 673957, 2021
172021
Clinical characterization of individuals with the distal 1q21. 1 microdeletion
SD Edwards, KV Schulze, JA Rosenfeld, LE Westerfield, A Gerard, ...
American Journal of Medical Genetics Part A 185 (5), 1388-1398, 2021
82021
Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits
B Yuan, K Schulze, NA Batzir, J Sinson, H Dai, W Zhu, F Bocanegra, ...
medRxiv, 2021.02. 16.21251842, 2021
22021
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
F Saettini, C Poli, J Vengoechea, S Bonanomi, JC Orellana, G Fazio, ...
Blood, The Journal of the American Society of Hematology 137 (4), 493-499, 2021
272021
Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)
G Anjani, AK Jindal, A Prithvi, A Kaur, A Rawat, M Sharma, B Yuan, ...
Journal of Clinical Immunology 41, 209-211, 2021
42021
BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms
S Barish, TS Barakat, BC Michel, N Mashtalir, JB Phillips, AM Valencia, ...
The American Journal of Human Genetics 107 (6), 1096-1112, 2020
372020
Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies
LM Amendola, K Muenzen, LG Biesecker, KM Bowling, GM Cooper, ...
The American Journal of Human Genetics 107 (5), 932-941, 2020
532020
The system can't perform the operation now. Try again later.
Articles 1–20