Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

by James R Lupski, Pawel Stankiewicz
Published 2005-12-01

Animal models for human contiguous gene syndromes and other genomic disorders

by Katherina Walz, Patricia Fonseca, James R. Lupski
Published 2004-01-01

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

by P J Hastings, Grzegorz Ira, James R Lupski
Published 2009-01-01

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization

by Bo Yuan, Pengfei Liu, Jeffrey Rogers, James R. Lupski
Published 2016-06-01

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

by Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho
Published 2021-08-01

Ten years of Genome Medicine

by Charles Auffray, Julian L. Griffin, Muin J. Khoury, James R. Lupski, Matthias Schwab
Published 2019-02-01

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

by Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli
Published 2019-07-01

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

by Ivan K. Chinn, Ivan K. Chinn, Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Harjit Dadi, Chaim M. Roifman, Chaim M. Roifman, Troy Quigg, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Jordan S. Orange, Jordan S. Orange, I. Celine Hanson, I. Celine Hanson
Published 2017-05-01

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

by Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll
Published 2011-08-01

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

by Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli
Published 2021-05-01

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

by Hiroyasu Konno, Ivan K. Chinn, Diana Hong, Jordan S. Orange, James R. Lupski, Alejandra Mendoza, Luis A. Pedroza, Glen N. Barber
Published 2018-04-01

Population bottlenecks as a potential major shaping force of human genome architecture.

by Adrian Gherman, Peter E Chen, Tanya M Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, Aravinda Chakravarti, James R Lupski, David J Cutler, Nicholas Katsanis
Published 2007-07-01

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

by Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond, Katherina Walz
Published 2010-11-01

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

by Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R Lupski, Wenli Gu
Published 2012-01-01

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

by Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere
Published 2013-01-01

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

by Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Published 2019-09-01

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

by Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs
Published 2017-10-01

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

by Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Published 2019-12-01

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

by Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa
Published 2014-12-01

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

by Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Nara Sobreira
Published 2021-08-01