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Trilochan Sahoo
Trilochan Sahoo
Combimatrix Molecular Diagnostics
Zweryfikowany adres z combimatrix.com
Tytuł
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Cytowane przez
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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ...
Nature genetics 40 (6), 719-721, 2008
6652008
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ...
Nature genetics 40 (12), 1466-1471, 2008
6632008
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
T Sahoo, EW Johnson, JW Thomas, PM Kuehl, TL Jones, CG Dokken, ...
Human molecular genetics 8 (12), 2325-2333, 1999
4081999
Paternally inherited microdeletion at 15q11. 2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
AL Duker, BC Ballif, EV Bawle, RE Person, S Mahadevan, S Alliman, ...
European Journal of Human Genetics 18 (11), 1196-1201, 2010
3432010
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region
JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ...
Genetics in Medicine 9 (7), 427-441, 2007
2692007
Microdeletion 15q13. 3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, ...
Journal of medical genetics 46 (6), 382-388, 2009
2572009
Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ...
American journal of medical genetics Part A 143 (15), 1679-1686, 2007
2512007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells, CM Sullivan, ...
PloS one 2 (3), e327, 2007
2482007
Increased LIS1 expression affects human and mouse brain development
W Bi, T Sapir, OA Shchelochkov, F Zhang, MA Withers, JV Hunter, T Levy, ...
Nature genetics 41 (2), 168-177, 2009
2442009
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
CMB Carvalho, F Zhang, P Liu, A Patel, T Sahoo, CA Bacino, C Shaw, ...
Human molecular genetics 18 (12), 2188-2203, 2009
2192009
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
T Sahoo, SW Cheung, P Ward, S Darilek, A Patel, D Del Gaudio, ...
Genetics in Medicine 8 (11), 719-727, 2006
2072006
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
Y Jiang, T Sahoo, RC Michaelis, D Bercovich, J Bressler, CD Kashork, ...
American journal of medical genetics Part A 131 (1), 1-10, 2004
1962004
Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges
T Sahoo, N Dzidic, MN Strecker, S Commander, MK Travis, C Doherty, ...
Genetics in medicine 19 (1), 83-89, 2017
1862017
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
XY Lu, MT Phung, CA Shaw, K Pham, SE Neil, A Patel, T Sahoo, ...
Pediatrics 122 (6), 1310-1318, 2008
1762008
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
SCS Nagamani, A Erez, J Shen, C Li, E Roeder, S Cox, L Karaviti, ...
European Journal of Human Genetics 18 (3), 278-284, 2010
1652010
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
P Moretti, T Sahoo, K Hyland, T Bottiglieri, S Peters, D Del Gaudio, B Roa, ...
Neurology 64 (6), 1088-1090, 2005
1652005
22q13. 3 deletion syndrome: clinical and molecular analysis using array CGH
SU Dhar, D Del Gaudio, JR German, SU Peters, Z Ou, PI Bader, JS Berg, ...
American journal of medical genetics Part A 152 (3), 573-581, 2010
1622010
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
L Shao, CA Shaw, XY Lu, T Sahoo, CA Bacino, SR Lalani, P Stankiewicz, ...
American journal of medical genetics Part A 146 (17), 2242-2251, 2008
1582008
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ...
Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010
1562010
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
JA Rosenfeld, BC Ballif, BS Torchia, T Sahoo, JB Ravnan, R Schultz, ...
Genetics in Medicine 12 (11), 694-702, 2010
1502010
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