Publications by authors named "Weimin Bi"

100Publications

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.

Curr Protoc Hum Genet 2020 Jun;106(1):e99

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cphg.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138410PMC
June 2020

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Am J Hum Genet 2020 01 26;106(1):129-136. Epub 2019 Dec 26.

Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042491PMC
January 2020

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

Am J Hum Genet 2019 12 27;105(6):1262-1273. Epub 2019 Nov 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904821PMC
December 2019

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.

Eur J Med Genet 2019 Nov 3;62(11):103567. Epub 2018 Nov 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237049PMC
November 2019

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Pediatr Blood Cancer 2019 01 10;66(1):e27439. Epub 2018 Sep 10.

Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pbc.27439
Publisher Site
http://dx.doi.org/10.1002/pbc.27439DOI Listing
January 2019

Novel applications of array comparative genomic hybridization in molecular diagnostics.

Expert Rev Mol Diagn 2018 06 31;18(6):531-542. Epub 2018 May 31.

a Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737159.2018.1479253DOI Listing
June 2018

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Am J Obstet Gynecol 2017 12 13;217(6):691.e1-691.e6. Epub 2017 Oct 13.

Baylor Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajog.2017.10.005DOI Listing
December 2017

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

N Engl J Med 2017 01 7;376(1):21-31. Epub 2016 Dec 7.

From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1516767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335876PMC
January 2017

Novel EED mutation in patient with Weaver syndrome.

Am J Med Genet A 2017 Feb 21;173(2):541-545. Epub 2016 Nov 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38055DOI Listing
February 2017

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.

Prenat Diagn 2016 Sep 30;36(9):823-30. Epub 2016 Jul 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4866DOI Listing
September 2016

Association between circulating inflammatory molecules and alcoholic liver disease in men.

Cell Stress Chaperones 2016 09 21;21(5):865-72. Epub 2016 Jun 21.

Department of Gastroenterology, Taishan Hospital, Taian, Shandong, 271000, People's Republic of China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12192-016-0711-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5003803PMC
September 2016

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

Am J Med Genet A 2016 10 10;170(10):2540-50. Epub 2016 Jun 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37796DOI Listing
October 2016

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Am J Med Genet A 2016 08 12;170(8):2181-5. Epub 2016 May 12.

Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37727DOI Listing
August 2016

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.

Eur J Med Genet 2014 May-Jun;57(6):264-6. Epub 2014 Mar 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Medicine, Baylor College of Medicine, Houston, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859793PMC
February 2015

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 6;162B(8):832-40. Epub 2013 Sep 6.

Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32187DOI Listing
December 2013

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2557-63. Epub 2012 Aug 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35549DOI Listing
October 2012

Aneuploidy as a mechanism for stress-induced liver adaptation.

J Clin Invest 2012 Sep 6;122(9):3307-15. Epub 2012 Aug 6.

Oregon Stem Cell Center, Papé Family Pediatric Research Institute, Portland, OR, USA.

View Article

Download full-text PDF

Source
http://www.jci.org/articles/view/64026
Publisher Site
http://dx.doi.org/10.1172/JCI64026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428097PMC
September 2012

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

Prenat Diagn 2012 Apr;32(4):351-61

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.3861DOI Listing
April 2012

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

Am J Med Genet A 2011 Dec 3;155A(12):3071-4. Epub 2011 Nov 3.

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34296DOI Listing
December 2011

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

PLoS Genet 2011 Aug 25;7(8):e1002247. Epub 2011 Aug 25.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1002247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161930PMC
August 2011

[Measurement of the irregular retinal lesion area based on the back propagation neural network method].

Zhongguo Yi Liao Qi Xie Za Zhi 2010 Nov;34(6):411-2, 417

Taishan Medical University, Taian, 271016.

View Article

Download full-text PDF

Source
November 2010

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Am J Med Genet A 2010 May;152A(5):1268-72

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33319
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33319DOI Listing
May 2010

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.

Prenat Diagn 2008 Oct;28(10):943-9

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.2087
Publisher Site
http://dx.doi.org/10.1002/pd.2087DOI Listing
October 2008

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Hum Mol Genet 2007 Aug 21;16(15):1802-13. Epub 2007 May 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3498, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm128DOI Listing
August 2007

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.

Am J Hum Genet 2007 Mar 18;80(3):518-25. Epub 2007 Jan 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/512043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1821110PMC
March 2007

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31510DOI Listing
November 2006

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

J Clin Invest 2006 Nov 5;116(11):3035-41. Epub 2006 Oct 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI28953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1590269PMC
November 2006

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Hum Genet 2006 Sep 23;120(2):211-26. Epub 2006 Jun 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-006-0197-yDOI Listing
September 2006

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.

Hum Mol Genet 2005 Apr 3;14(8):983-95. Epub 2005 Mar 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddi085DOI Listing
April 2005

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Hum Genet 2004 Nov 30;115(6):515-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030-3498, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-004-1187-6DOI Listing
November 2004

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Hum Mol Genet 2004 Nov 30;13(21):2613-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddh288DOI Listing
November 2004

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Am J Hum Genet 2003 Dec 24;73(6):1302-15. Epub 2003 Nov 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180396PMC
http://dx.doi.org/10.1086/379979DOI Listing
December 2003

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Am J Hum Genet 2002 Nov 9;71(5):1072-81. Epub 2002 Oct 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(07)60402-9.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292970760402
Publisher Site
http://dx.doi.org/10.1086/344346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420000PMC
November 2002

Detection of occult metastases in lymph nodes from patients with colorectal carcinoma by reverse transcriptase-polymerase chain reaction.

Chin Med J (Engl) 2002 Apr;115(4):529-31

Department of Surgery, Tai'an Central Hospital and First Teaching Hospitasl of Taishan Medical College, Tai'an, China.

View Article

Download full-text PDF

Source
April 2002