Takip et
Tamim H. Shaikh
Tamim H. Shaikh
Professor of Pediatrics and Biochemistry & Molecular Genetics, University of Colorado Denver, School
ucdenver.edu üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
The DNA sequence of human chromosome 22
I Dunham, AR Hunt, JE Collins, R Bruskiewich, DM Beare, M Clamp, ...
Nature 402 (6761), 489-495, 1999
14931999
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ...
Nature genetics 41 (11), 1223-1227, 2009
8402009
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
6832010
Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis
TH Shaikh, H Kurahashi, SC Saitta, AM O’Hare, P Hu, BA Roe, ...
Human molecular genetics 9 (4), 489-501, 2000
6572000
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
J Elia, X Gai, HM Xie, JC Perin, E Geiger, JT Glessner, M D'arcy, ...
Molecular psychiatry 15 (6), 637-646, 2010
6442010
African origin of human-specific polymorphic Alu insertions.
MA Batzer, M Stoneking, M Alegria-Hartman, H Bazan, DH Kass, ...
Proceedings of the National Academy of Sciences 91 (25), 12288-12292, 1994
4651994
Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ...
The American Journal of Human Genetics 84 (6), 780-791, 2009
4612009
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
BJ Keating, S Tischfield, SS Murray, T Bhangale, TS Price, JT Glessner, ...
PloS one 3 (10), e3583, 2008
4552008
Copy number variation at 1q21. 1 associated with neuroblastoma
SJ Diskin, C Hou, JT Glessner, EF Attiyeh, M Laudenslager, K Bosse, ...
Nature 459 (7249), 987-991, 2009
4502009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ...
Genome research 19 (9), 1682-1690, 2009
4372009
Segmental duplications: an'expanding'role in genomic instability and disease
BS Emanuel, TH Shaikh
Nature Reviews Genetics 2 (10), 791-800, 2001
3572001
Duplication of 7q34 in pediatric low‐grade astrocytomas detected by high‐density single‐nucleotide polymorphism‐based genotype arrays results in a novel BRAF fusion gene
AJ Sievert, EM Jackson, X Gai, H Hakonarson, AR Judkins, AC Resnick, ...
Brain pathology 19 (3), 449-458, 2009
2792009
Discovery of a previously unrecognized microdeletion syndrome of 16p11. 2–p12. 2
BC Ballif, SA Hornor, E Jenkins, S Madan-Khetarpal, U Surti, KE Jackson, ...
Nature genetics 39 (9), 1071-1073, 2007
2502007
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya, JB Hall, JU Obiajulu, ...
Nature genetics 54 (9), 1305-1319, 2022
2472022
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ...
Brain 137 (2), 366-379, 2014
2422014
Structure and variability of recently inserted Alu family members
MA Batzer, GE Kilroy, PE Richard, TH Shaikh, TD Desselle, CL Hoppens, ...
Nucleic acids research 18 (23), 6793-6798, 1990
2411990
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
MC Hannibal, KJ Buckingham, SB Ng, JE Ming, AE Beck, MJ McMillin, ...
American Journal of Medical Genetics Part A 155 (7), 1511-1516, 2011
2362011
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang, L Brueggeman, ...
NPJ genomic medicine 4 (1), 19, 2019
2232019
Rare structural variation of synapse and neurotransmission genes in autism
X Gai, HM Xie, JC Perin, N Takahashi, K Murphy, AS Wenocur, M D'arcy, ...
Molecular psychiatry 17 (4), 402-411, 2012
2122012
Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive …
EM Jackson, AJ Sievert, X Gai, H Hakonarson, AR Judkins, L Tooke, ...
Clinical cancer research 15 (6), 1923-1930, 2009
2122009
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