Bo Yuan, Ph.D.

Associate Professor

(713) 798-6538

Email

by2@bcm.edu

Positions

Associate Professor: Human Genome Sequencing Center
Baylor College of Medicine

Associate Professor: Department of Molecular and Human Genetics
Baylor College of Medicine

Addresses

Alkek Tower (ALKT) N1419 (Office): One Baylor Plaza
Houston, TX, 77030
United States
Phone: (713) 798-6538
by2@bcm.edu

Education

BS from Nankai University: 07/2009 - Tianjin, China

PhD from Baylor College of Medicine: 04/2015 - Houston, Texas, United States

Postdoctoral Fellowship at Baylor College of Medicine: 01/2019 - Houston; ABMGG Clinical Molecular Genetics, ABMGG Clinical Cytogenetics

Websites

VIICTR Publications List

PubMed

HGSC faculty page

Selected Publications

Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L,..., Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. " Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation. " N Engl J Med. 2014 Dec 3;
Pubmed PMID: 25470569.
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, ..., Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR.. " Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. " J Clin Invest.. 2015 Jan 9;
Pubmed PMID: 25574841.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A,…, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. " Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. " Am J Hum Genet. 2014 Aug 7;
Pubmed PMID: 25087610.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. " The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles. " Am J Hum Genet. 2014 Aug 7;
Pubmed PMID: 25065914.
Beckers A, Lodish M, Giampaolo T, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong C, Caberg JH, Verrua E, ... , Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield E, Bours V, Liu P, de Herder WW, Pellegata NS, Lupski JR, Daly AF, Stratakis CA.. " X-linked acrogigantism (X-LAG) syndrome: clinical profile and therapeutic responses. " Endocr Relat Cancer.. 2015 Feb 24;
Pubmed PMID: 25712922.
Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G,...,Lupski JR, Stratakis CA, Beckers A.. " Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects " Endocr Relat Cancer.. 2016 ;
Pubmed PMID: 26935837.
Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR.. " Comparative genomic analyses of the human NPHP1 locus reveal complex genomic architecture and its regional evolution in primates " PLoS Genet.. 2015 ;
Pubmed PMID: 26641089.
Liu P, Yuan B, Carvalho CMB, Wuster A,...,Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR.. " An organismal CNV mutator phenotype restricted to early human development " Cell. 2017 ;
Pubmed PMID: 28235197.
Yuan B, Neira J, Pehlivan D, ..., Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.. " Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. " Genet Med.. 2018 ;
Pubmed PMID: 30158690.
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. " Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. " Hum Mol Genet.. 2015 Apr 23;
Pubmed PMID: 25908615.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA,..., Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.. " Identification of novel candidate disease genes from de novo exonic copy number variants " Genome Med.. 2017 ;
Pubmed PMID: 28934986.
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR.. " Nonrecurrent 17p11. 2p12 rearrangement events that result in two concomitant genomic disorders: the PMP22-RAI1 contiguous gene duplication syndrome " Am J Hum Genet.. 2015 ;
Pubmed PMID: 26544804.
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR.. " Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy " Hum Genet.. 2016 ;
Pubmed PMID: 27386852.
Potocki L, Neira-Fresneda J, Yuan B.. " Potocki-Lupski Syndrome. " GeneReviews. 2017 ;
Pubmed PMID: 28837307.
Chen CA, Lattier J, Zhu W, ..., Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B.. " Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. " Genet Med.. 2022 ;
Pubmed PMID: 34906496.
Okur V, Chen Z, Vossaert L, ..., Eng CM, Wu N, Yuan B.. " De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. " NPJ Genom Med.. 2021 ;
Pubmed PMID: 34876591.
Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H.. " Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. " Mol Genet Genomic Med.. 2021 ;
Pubmed PMID: 34587367.
Wu CW, Sasa G, Salih A, Nicholas S, Vogel TP, Cahill G, Kuehn HS, Rosenzweig SD, Zhou Q, Chinn IK, Yuan B.. " Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. " J Clin Immunol.. 2021 ;
Pubmed PMID: 34032947.
Yuan B, Wang L, Liu P, ..., Yang Y, Lupski JR, Bi W.. " CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. " Genet Med.. 2020 ;
Pubmed PMID: 32576985.
Amendola LM, Muenzen K, Biesecker LG, ..., Yuan B, Zouk H, Jarvik GP.. " Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. " Am J Hum Genet.. 2020 ;
Pubmed PMID: 33108757.

Memberships

American Society of Human Genetics: Member (08/2013)

American College of Medical Genetics: Member (11/2018)