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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Published in:
Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
By:
- Carvalho, Claudia M B;
- Ramocki, Melissa B;
- Pehlivan, Davut;
- Franco, Luis M;
- Gonzaga-Jauregui, Claudia;
- Fang, Ping;
- McCall, Alanna;
- Pivnick, Eniko Karman;
- Hines-Dowell, Stacy;
- Seaver, Laurie H;
- Friehling, Linda;
- Lee, Sansan;
- Smith, Rosemarie;
- del Gaudio, Daniela;
- Withers, Marjorie;
- Liu, Pengfei;
- Cheung, Sau Wai;
- Belmont, John W;
- Zoghbi, Huda Y;
- Hastings, P J
Publication type:
Article
Increased LIS1 expression affects human and mouse brain development.
Published in:
Nature Genetics, 2009, v. 41, n. 2, p. 168, doi. 10.1038/ng.302
By:
- Weimin Bi;
- Sapir, Tamar;
- Shchelochkov, Oleg A.;
- Feng Zhang;
- Withers, Marjorie A.;
- Hunter, Jill V.;
- Levy, Talia;
- Shinder, Vera;
- Peiffer, Daniel A.;
- Gunderson, Kevin L.;
- Nezarati, Marjan M.;
- Shotts, Vern Ann;
- Amato, Stephen S.;
- Savage, Sarah K.;
- Harris, David J.;
- Day-Salvatore, Debra-Lynn;
- Horner, Michele;
- Xin-Yan Lu;
- Sahoo, Trilochan;
- Yanagawa, Yuchio
Publication type:
Article
Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Published in:
Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
By:
- Potocki, Lorraine;
- Chen, Ken-Shiung;
- Park, Sung-Sup;
- Osterholm, Doreen E.;
- Withers, Marjorie A.;
- Kimonis, Virginia;
- Summers, Anne M.;
- Meschino, Wendy S.;
- Anyane-Yeboa, Kwame;
- Kashork, Catherine D.;
- Shaffer, Lisa G.;
- Lupski, James R.
Publication type:
Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
By:
- Duan, Ruizhi;
- Marafi, Dana;
- Xia, Zhi‐Jie;
- Ng, Bobby G.;
- Maroofian, Reza;
- Sumya, Farhana Taher;
- Saad, Ahmed K.;
- Du, Haowei;
- Fatih, Jawid M.;
- Hunter, Jill V.;
- Elbendary, Hasnaa M.;
- Baig, Shahid M.;
- Abdullah, Uzma;
- Ali, Zafar;
- Efthymiou, Stephanie;
- Murphy, David;
- Mitani, Tadahiro;
- Withers, Marjorie A.;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep
Publication type:
Article
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 21, p. 3516, doi. 10.1093/hmg/ddaa237
By:
- Nistala, Harikiran;
- Dronzek, John;
- Gonzaga-Jauregui, Claudia;
- Chim, Shek Man;
- Rajamani, Saathyaki;
- Nuwayhid, Samer;
- Delgado, Dennis;
- Burke, Elizabeth;
- Karaca, Ender;
- Franklin, Matthew C;
- Sarangapani, Prasad;
- Podgorski, Michael;
- Tang, Yajun;
- Dominguez, Melissa G;
- Withers, Marjorie;
- Deckelbaum, Ron A;
- Scheonherr, Christopher J;
- Gahl, William A;
- Malicdan, May C;
- Zambrowicz, Brian
Publication type:
Article
Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. 749, doi. 10.1093/hmg/dds482
By:
- Sun, Zhe;
- Liu, Pengfei;
- Jia, Xueyuan;
- Withers, Marjorie A.;
- Jin, Li;
- Lupski, James R.;
- Zhang, Feng
Publication type:
Article
Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies.
Published in:
2012
By:
- Pengfei Liu;
- Walter, Klaudia;
- Writzl, Karin;
- Gelowani, Violet;
- Lindsay, Sarah;
- Carvalho, Claudia M.B.;
- Withers, Marjorie;
- Wiszniewska, Joanna;
- Patel, Ankita;
- Rautenstrauss, Bernd;
- Hurles, Matthew E.;
- Lupski, James R.
Publication type:
Abstract
Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome.
Published in:
PLoS Genetics, 2011, v. 7, n. 8, p. 1, doi. 10.1371/journal.pgen.1002247
By:
- Outwin, Emily;
- Carpenter, Gillian;
- Bi, Weimin;
- Withers, Marjorie A.;
- Lupski, James R.;
- O'Driscoll, Mark
Publication type:
Article
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture.
Published in:
PLoS Genetics, 2007, v. 3, n. 7, p. e119, doi. 10.1371/journal.pgen.0030119
By:
- Gherman, Adrian;
- Chen, Peter E.;
- Teslovich, Tanya M.;
- Stankiewicz, Pawel;
- Withers, Marjorie;
- Kashuk, Carl S.;
- Chakravarti, Aravinda;
- Lupski, James R.;
- Cutler, David J.;
- Katsanis, Nicholas
Publication type:
Article
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Published in:
PLoS Genetics, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.pgen.1005686
By:
- Yuan, Bo;
- Liu, Pengfei;
- Gupta, Aditya;
- Beck, Christine R.;
- Tejomurtula, Anusha;
- Campbell, Ian M.;
- Gambin, Tomasz;
- Simmons, Alexandra D.;
- Withers, Marjorie A.;
- Harris, R. Alan;
- Rogers, Jeffrey;
- Schwartz, David C.;
- Lupski, James R.
Publication type:
Article

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