Weimin Bi

PhD
Division Director, Cytogenetics

Dr. Weimin Bi serves as a Division Director of Cytogenetics at Baylor Genetics (BG). Dr. Bi is also an Associate Professor of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).

Dr. Bi received her PhD degree from the University of Texas Graduate School of Biomedical Sciences at Houston. She then moved to BCM where she obtained postdoctoral training and American Board of Medical Genomics and Genetics (ABMGG) fellowship training. Dr. Bi became board certified in 2009 for Clinical Cytogenetics and in 2015 for Clinical Molecular Genetics. 

Out of her many roles at BG, Dr. Bi oversees the quality of Cytogenetics testing including traditional Cytogenetics testing and Chromosomal Microarray Analysis. 

During her free time, she enjoys growing veggies and herbs. 

Position

Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Division Director
Cytogenetics Laboratory
Baylor Genetics
Houston, TX, United States

Education

PhD from The University of Texas Medical School at Houston
Houston, TX, United States

MS from The University of Texas at Houston
Houston, TX, United States

BS from Wuhan University
Wuhan, China

Certifications

Clinical Cytogenetics
American Board of Medical Genetics

Clinical Molecular Genetics
American Board of Medical Genetics

Publications
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected mendelian disorder

Normand, E. A., Braxton, A., Nassef, S., Ward, P. A., Vetrini, F., He, W., Patel, V., Qu, C., Westerfield, L. E., Stover, S., Dharmadhikari, A. V., Muzny, D. M., Gibbs, R. A., Dai, H., Meng, L., Wang, X., Xiao, R., Liu, P., Bi, W., Xia, F., … Yang, Y. (2018). Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Medicine10(1), 74. https://doi.org/10.1186/s13073-018-0582-x. PMID: 30266093. 

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Genet Med. 2020 Jun 24. PMID: 32576985

Contribution of uniparental disomy in a clinical trio exome cohort of 2,675 patients

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. 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. Mol Genet Genomic Med. 2021 Sep 29; e1792. PMID: 34587367.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Yuan, B., Schulze, K. V., Assia Batzir, N., Sinson, J., Dai, H., Zhu, W., Bocanegra, F., Fong, C. T., Holder, J., Nguyen, J., Schaaf, C. P., Yang, Y., Bi, W., Eng, C., Shaw, C., Lupski, J. R., & Liu, P. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsGenome Medicine14(1), 113. PMID: 36180924.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He, Francesco Vetrini, Alicia A Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A Shaw, Janice L Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A Bacino, Ankita Patel, Amy M Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Christine M Eng, James R Lupski, Yaping Yang, Weimin Bi. Genome Med. 2019 May 17;11(1):30. PMID: 31101064
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski. Genome Med. 2019 Apr 23;11(1):25. . PMID: 31014393
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical exome sequencing reveals the locus heterogeneity and phenotypic variability of cohesinopathies. Yuan B, Neira J, Pehlivan, D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch A, Grange D, Immken L, Schaaf CP, Esch HV, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Genet Med. 2019 Mar; 21(3):663-675. PMID: 30158690

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu & Pawel Stankiewicz (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med 11, 12. PMID: 31349857

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan., Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676. PMID: 28343629

Dissection of Disease Phenotypes of Multiple Genetic Causes

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., … Lupski, J. R. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, (1):21. PMID: 27959697

Mechanisms for complex chromosomal insertions

Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov 23;12(11):e1006446. PMID: 27880765

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 Sep 1;99(3):720. PMID: 27545676

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013;23(9):1395-409. PMID: 23657883

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.. Hum. Mol. Genet.. 2012 August 1;21(15):3345-55. Pubmed PMID: 22543972

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literaturePrenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literaturePrenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S.C., Bi, W., Carvalho, C.M., Simmons, A.D., Wiszniewska, J., Fang, P., Eng, P.A., Cooper, M.L., Sutton, V.R., Roeder, E.R., Bodensteiner, J.B., Delgado, M.R., Prakash, S.K., Belmont, J.W., Stankiewicz, P., Berg, J.S., Shinawi, M., Patel, A., Cheung, S.W., and Lupski, J.R. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20, 1975-1988. PMID: 21355048

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesPrenat. Diagn.. 2009 January;29(1):29-39. PMID: 19012303

LIS1 increased expression affects human and mouse brain development

Bi W*, Sapir T*, Shchelochkov OA*, Zhang F, Withers M, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore D-L, Horner M, Lu X-Y, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, and Reiner O (2009). LIS1 increased expression affects human and mouse brain development. Nat Genet. 41:168-177. PMID: 19136950 (*co-first authors)

Weimin Bi

PhD
Division Director, Cytogenetics

Dr. Weimin Bi serves as a Division Director of Cytogenetics at Baylor Genetics (BG). Dr. Bi is also an Associate Professor of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).

Dr. Bi received her PhD degree from the University of Texas Graduate School of Biomedical Sciences at Houston. She then moved to BCM where she obtained postdoctoral training and American Board of Medical Genomics and Genetics (ABMGG) fellowship training. Dr. Bi became board certified in 2009 for Clinical Cytogenetics and in 2015 for Clinical Molecular Genetics. 

Out of her many roles at BG, Dr. Bi oversees the quality of Cytogenetics testing including traditional Cytogenetics testing and Chromosomal Microarray Analysis. 

During her free time, she enjoys growing veggies and herbs. 

Position

Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Division Director
Cytogenetics Laboratory
Baylor Genetics
Houston, TX, United States

Education

PhD from The University of Texas Medical School at Houston
Houston, TX, United States

MS from The University of Texas at Houston
Houston, TX, United States

BS from Wuhan University
Wuhan, China

Certifications

Clinical Cytogenetics
American Board of Medical Genetics

Clinical Molecular Genetics
American Board of Medical Genetics

Publications
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected mendelian disorder

Normand, E. A., Braxton, A., Nassef, S., Ward, P. A., Vetrini, F., He, W., Patel, V., Qu, C., Westerfield, L. E., Stover, S., Dharmadhikari, A. V., Muzny, D. M., Gibbs, R. A., Dai, H., Meng, L., Wang, X., Xiao, R., Liu, P., Bi, W., Xia, F., … Yang, Y. (2018). Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Medicine10(1), 74. https://doi.org/10.1186/s13073-018-0582-x. PMID: 30266093. 

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Genet Med. 2020 Jun 24. PMID: 32576985

Contribution of uniparental disomy in a clinical trio exome cohort of 2,675 patients

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. 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. Mol Genet Genomic Med. 2021 Sep 29; e1792. PMID: 34587367.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Yuan, B., Schulze, K. V., Assia Batzir, N., Sinson, J., Dai, H., Zhu, W., Bocanegra, F., Fong, C. T., Holder, J., Nguyen, J., Schaaf, C. P., Yang, Y., Bi, W., Eng, C., Shaw, C., Lupski, J. R., & Liu, P. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsGenome Medicine14(1), 113. PMID: 36180924.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He, Francesco Vetrini, Alicia A Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A Shaw, Janice L Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A Bacino, Ankita Patel, Amy M Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Christine M Eng, James R Lupski, Yaping Yang, Weimin Bi. Genome Med. 2019 May 17;11(1):30. PMID: 31101064
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski. Genome Med. 2019 Apr 23;11(1):25. . PMID: 31014393
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical exome sequencing reveals the locus heterogeneity and phenotypic variability of cohesinopathies. Yuan B, Neira J, Pehlivan, D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch A, Grange D, Immken L, Schaaf CP, Esch HV, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Genet Med. 2019 Mar; 21(3):663-675. PMID: 30158690

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu & Pawel Stankiewicz (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med 11, 12. PMID: 31349857

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan., Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676. PMID: 28343629

Dissection of Disease Phenotypes of Multiple Genetic Causes

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., … Lupski, J. R. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, (1):21. PMID: 27959697

Mechanisms for complex chromosomal insertions

Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov 23;12(11):e1006446. PMID: 27880765

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 Sep 1;99(3):720. PMID: 27545676

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013;23(9):1395-409. PMID: 23657883

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.. Hum. Mol. Genet.. 2012 August 1;21(15):3345-55. Pubmed PMID: 22543972

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literaturePrenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literaturePrenat. Diagn. 2012 April;32(4):351-61. PMID: 22467166

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S.C., Bi, W., Carvalho, C.M., Simmons, A.D., Wiszniewska, J., Fang, P., Eng, P.A., Cooper, M.L., Sutton, V.R., Roeder, E.R., Bodensteiner, J.B., Delgado, M.R., Prakash, S.K., Belmont, J.W., Stankiewicz, P., Berg, J.S., Shinawi, M., Patel, A., Cheung, S.W., and Lupski, J.R. (2011). Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20, 1975-1988. PMID: 21355048

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

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LIS1 increased expression affects human and mouse brain development

Bi W*, Sapir T*, Shchelochkov OA*, Zhang F, Withers M, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore D-L, Horner M, Lu X-Y, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, and Reiner O (2009). LIS1 increased expression affects human and mouse brain development. Nat Genet. 41:168-177. PMID: 19136950 (*co-first authors)