Publications by authors named "James Lupski"

100Publications

Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Expert Rev Mol Diagn 2020 Oct 10;20(10):995-1002. Epub 2020 Oct 10.

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

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http://dx.doi.org/10.1080/14737159.2020.1826312DOI Listing
October 2020

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Am J Med Genet A 2020 Dec 21;182(12):2919-2925. Epub 2020 Sep 21.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.61878DOI Listing
December 2020

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Hum Mutat 2020 Nov 1;41(11):1979-1998. Epub 2020 Oct 1.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.24106DOI Listing
November 2020

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Neurol Genet 2020 Oct 28;6(5):e498. Epub 2020 Jul 28.

Department of Molecular and Human Genetics (L.A.R., R.D., B.Y., S.G., V.K., E.H., A.S., E.Y., C.Z., X.S., H.D., T.G., Z.C.A., A.T., C.S., W.B., J.E.P., J.R.L., J.M.S.), Department of Neurology (I.A.-D., J.J., J.M.S.), and Human Genome Sequencing Center (S.N.J., D.M.M., J.R.L.), Baylor College of Medicine, Houston, TX; Baylor Genetics (W.B.), Houston, TX; Department of Neurology (O.A.R.), Department of Neuroscience (O.A.R.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Parkinson's Disease Center and Movement Disorders Clinic (J.J.) and Department of Pediatrics (J.R.L., J.M.S.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (J.R.L.), Texas Children's Hospital, Houston; Department of Neuroscience (J.M.S.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (J.M.S.), Texas Children's Hospital, Houston.

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http://dx.doi.org/10.1212/NXG.0000000000000498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413630PMC
October 2020

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Am J Med Genet A 2020 09 13;182(9):2077-2084. Epub 2020 Jul 13.

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

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http://dx.doi.org/10.1002/ajmg.a.61741DOI Listing
September 2020

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Kidney Int 2020 10 22;98(4):1020-1030. Epub 2020 May 22.

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.04.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673260PMC
October 2020

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

Curr Protoc Hum Genet 2020 06;106(1):e99

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

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

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Am J Med Genet A 2020 05 3;182(5):1143-1151. Epub 2020 Mar 3.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502196PMC
May 2020

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Dev Cell 2019 12 14;51(6):713-729.e6. Epub 2019 Nov 14.

Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; MD/PhD Medical Scientist Training Program and MHG Graduate program, BCM, Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2019.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917859PMC
December 2019

A Genocentric Approach to Discovery of Mendelian Disorders.

Am J Hum Genet 2019 11 24;105(5):974-986. Epub 2019 Oct 24.

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

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http://dx.doi.org/10.1016/j.ajhg.2019.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849092PMC
November 2019

Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family.

J Neurointerv Surg 2020 Feb 10;12(2):221-226. Epub 2019 Aug 10.

Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.1136/neurintsurg-2019-014900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014815PMC
February 2020

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

Am J Med Genet A 2019 10 24;179(10):1982-1986. Epub 2019 Jul 24.

Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953247PMC
October 2019

A Human in Human Genetics.

Authors:
James R Lupski

Cell 2019 03;177(1):9-15

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http://dx.doi.org/10.1016/j.cell.2019.02.034DOI Listing
March 2019

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:
James R Lupski

Am J Hum Genet 2019 03;104(3):391-406

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

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http://dx.doi.org/10.1016/j.ajhg.2018.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407437PMC
March 2019

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 03 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

J Allergy Clin Immunol 2019 06 13;143(6):2296-2299. Epub 2019 Feb 13.

Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677392PMC
June 2019

Ten years of Genome Medicine.

Genome Med 2019 02 15;11(1). Epub 2019 Feb 15.

Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology, Auerbachstraße, 70376, Stuttgart, Germany.

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http://dx.doi.org/10.1186/s13073-019-0618-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376775PMC
February 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J Endocr Soc 2018 Oct 3;2(10):1100-1108. Epub 2018 Aug 3.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2018-00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137279PMC
October 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements.

Genome Res 2018 08 15;28(8):1228-1242. Epub 2018 Jun 15.

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

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http://dx.doi.org/10.1101/gr.229401.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071635PMC
August 2018

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Cell Rep 2018 04;23(4):1112-1123

Department of Cell Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.03.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092751PMC
April 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018