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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
By:
- Brunetti-Pierri, Nicola;
- Berg, Jonathan S.;
- Scaglia, Fernando;
- Belmont, John;
- Bacino, Carlos A.;
- Sahoo, Trilochan;
- Lalani, Seema R.;
- Graham, Brett;
- Lee, Brendan;
- Shinawi, Marwan;
- Shen, Joseph;
- Kang, Sung-Hae L.;
- Pursley, Amber;
- Lotze, Timothy;
- Kennedy, Gail;
- Lansky-Shafer, Susan;
- Weaver, Christine;
- Roeder, Elizabeth R.;
- Grebe, Theresa A.;
- Arnold, Georgianne L.
Publication type:
Article
Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
Published in:
Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
By:
- Smyk, Marta;
- Berg, Jonathan S.;
- Pursley, Amber;
- Curtis, Fiona K.;
- Fernandez, Bridget A.;
- Bien-Willner, Gabriel A.;
- Lupski, James R.;
- Sau Wai Cheung;
- Stankiewicz, Pawel
Publication type:
Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
By:
- Pham, Justin;
- Shaw, Chad;
- Pursley, Amber;
- Hixson, Patricia;
- Sampath, Srirangan;
- Roney, Erin;
- Gambin, Tomasz;
- Kang, Sung-Hae L;
- Bi, Weimin;
- Lalani, Seema;
- Bacino, Carlos;
- Lupski, James R;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau-Wai
Publication type:
Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
By:
- Wiszniewska, Joanna;
- Bi, Weimin;
- Shaw, Chad;
- Stankiewicz, Pawel;
- Kang, Sung-Hae L;
- Pursley, Amber N;
- Lalani, Seema;
- Hixson, Patricia;
- Gambin, Tomasz;
- Tsai, Chun-hui;
- Bock, Hans-Georg;
- Descartes, Maria;
- Probst, Frank J;
- Scaglia, Fernando;
- Beaudet, Arthur L;
- Lupski, James R;
- Eng, Christine;
- Wai Cheung, Sau;
- Bacino, Carlos;
- Patel, Ankita
Publication type:
Article
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
Published in:
2011
By:
- Tsai, Anne Chun-Hui;
- Dossett, Cherilyn J.;
- Walton, Carol S.;
- Cramer, Andrea E.;
- Eng, Patti A.;
- Nowakowska, Beata A.;
- Pursley, Amber N.;
- Stankiewicz, Pawel;
- Wiszniewska, Joanna;
- Sau Wai Cheung
Publication type:
Case Study
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
Published in:
2016
By:
- Kong, Grace Wing Shan;
- Cao, Ye;
- Huang, Jin;
- Cheng, Kwun Yue;
- Pursley, Amber Nolen;
- Rosenfeld, Jill Anne;
- Edwards, Janice G.;
- Chan, Yiu Man;
- Cheung, Sau Wai;
- Leung, Tak Yeung;
- Choy, Kwong Wai
Publication type:
journal article
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 4, p. 351, doi. 10.1002/pd.3861
By:
- Breman, Amy;
- Pursley, Amber N.;
- Hixson, Patricia;
- Bi, Weimin;
- Ward, Patricia;
- Bacino, Carlos A.;
- Shaw, Chad;
- Lupski, James R.;
- Beaudet, Arthur;
- Patel, Ankita;
- Cheung, Sau W.;
- Van den Veyver, Ignatia
Publication type:
Article
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 1, p. 29, doi. 10.1002/pd.2127
By:
- Van den Veyver, Ignatia B.;
- Patel, Ankita;
- Shaw, Chad A.;
- Pursley, Amber N.;
- Kang, Sung-Hae L.;
- Simovich, Marcia J.;
- Ward, Patricia A.;
- Darilek, Sandra;
- Johnson, Anthony;
- Neill, Sarah E.;
- Bi, Weimin;
- White, Lisa D.;
- Eng, Christine M.;
- Lupski, James R.;
- Cheung, Sau Wai;
- Beaudet, Arthur L.
Publication type:
Article
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1112, doi. 10.1002/pd.1841
By:
- Simovich, Marcia J.;
- Yatsenko, Svetlana A.;
- Kang, Sung-Hae L.;
- Cheung, Sau Wai;
- Dudek, Martha E.;
- Pursley, Amber;
- Ward, Patricia A.;
- Patel, Ankita;
- Lupski, James R.
Publication type:
Article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
By:
- Stankiewicz, Paweł;
- Kulkarni, Shashikant;
- Dharmadhikari, Avinash V.;
- Sampath, Srirangan;
- Bhatt, Samarth S.;
- Shaikh, Tamim H.;
- Xia, Zhilian;
- Pursley, Amber N.;
- Cooper, M. Lance;
- Shinawi, Marwan;
- Paciorkowski, Alex R.;
- Grange, Dorothy K.;
- Noetzel, Michael J.;
- Saunders, Scott;
- Simons, Paul;
- Summar, Marshall;
- Lee, Brendan;
- Scaglia, Fernando;
- Fellmann, Florence;
- Martinet, Danielle
Publication type:
Article
Detection of clinically relevant exonic copy-number changes by array CGH.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360
By:
- Boone, Philip M.;
- Bacino, Carlos A.;
- Shaw, Chad A.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Pursley, Amber N.;
- Kang, Sung-Hae L.;
- Yang, Yaping;
- Wiszniewska, Joanna;
- Nowakowska, Beata A.;
- del Gaudio, Daniela;
- Xia, Zhilian;
- Simpson-Patel, Gayle;
- Immken, LaDonna L.;
- Gibson, James B.;
- Tsai, Anne C.-H.;
- Bowers, Jennifer A.;
- Reimschisel, Tyler E.;
- Schaaf, Christian P.;
- Potocki, Lorraine
Publication type:
Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
By:
- Carvalho, Claudia M.B.;
- Zhang, Feng;
- Liu, Pengfei;
- Patel, Ankita;
- Sahoo, Trilochan;
- Bacino, Carlos A.;
- Shaw, Chad;
- Peacock, Sandra;
- Pursley, Amber;
- Tavyev, Y. Jane;
- Ramocki, Melissa B.;
- Nawara, Magdalena;
- Obersztyn, Ewa;
- Vianna-Morgante, Angela M.;
- Stankiewicz, Pawel;
- Zoghbi, Huda Y.;
- Cheung, Sau Wai;
- Lupski, James R.
Publication type:
Article
Identification of novel candidate disease genes from de novo exonic copy number variants.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
By:
- Gambin, Tomasz;
- Bo Yuan;
- Weimin Bi;
- Pengfei Liu;
- Rosenfeld, Jill A.;
- Coban-Akdemir, Zeynep;
- Pursley, Amber N.;
- Nagamani, Sandesh C. S.;
- Marom, Ronit;
- Golla, Sailaja;
- Dengle, Lauren;
- Petrie, Heather G.;
- Matalon, Reuben;
- Emrick, Lisa;
- Proud, Monica B.;
- Treadwell-Deering, Diane;
- Hsiao-Tuan Chao;
- Koillinen, Hannele;
- Brown, Chester;
- Urraca, Nora
Publication type:
Article

Found: 13