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Stephen F. Kingsmore
Stephen F. Kingsmore
Rady Children's Institute for Genomic Medicine
Dirección de correo verificada de rchsd.org - Página principal
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Alternative isoform regulation in human tissue transcriptomes
ET Wang, R Sandberg, S Luo, I Khrebtukova, L Zhang, C Mayr, ...
Nature 456 (7221), 470-476, 2008
58092008
Comprehensive human genome amplification using multiple displacement amplification
FB Dean, S Hosono, L Fang, X Wu, AF Faruqi, P Bray-Ward, Z Sun, ...
Proceedings of the National Academy of Sciences 99 (8), 5261-5266, 2002
18672002
Multiplexed protein measurement: technologies and applications of protein and antibody arrays
SF Kingsmore
Nature reviews Drug discovery 5 (4), 310-321, 2006
9042006
Carrier testing for severe childhood recessive diseases by next-generation sequencing
CJ Bell, DL Dinwiddie, NA Miller, SL Hateley, EE Ganusova, J Mudge, ...
Science translational medicine 3 (65), 65ra4-65ra4, 2011
8452011
Immunoassays with rolling circle DNA amplification: a versatile platform for ultrasensitive antigen detection
B Schweitzer, S Wiltshire, J Lambert, S O'Malley, K Kukanskis, Z Zhu, ...
Proceedings of the National Academy of Sciences 97 (18), 10113-10119, 2000
8172000
Multiplexed protein profiling on microarrays by rolling-circle amplification
B Schweitzer, S Roberts, B Grimwade, W Shao, M Wang, Q Fu, Q Shu, ...
Nature biotechnology 20 (4), 359-365, 2002
7562002
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
CJ Saunders, NA Miller, SE Soden, DL Dinwiddie, A Noll, NA Alnadi, ...
Science translational medicine 4 (154), 154ra135-154ra135, 2012
6882012
Unbiased whole-genome amplification directly from clinical samples
S Hosono, AF Faruqi, FB Dean, Y Du, Z Sun, X Wu, J Du, SF Kingsmore, ...
Genome research 13 (5), 954-964, 2003
6522003
Identification of the homologous beige and Chediak–Higashi syndrome genes
MDFS Barbosa, QA Nguyen, VT Tchernev, JA Ashley, JC Detter, ...
Nature 382 (6588), 262-265, 1996
6241996
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
SE Baranzini, J Mudge, JC Van Velkinburgh, P Khankhanian, ...
Nature 464 (7293), 1351-1356, 2010
5692010
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ...
Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015
5672015
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ...
NPJ genomic medicine 3 (1), 16, 2018
5322018
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
SE Soden, CJ Saunders, LK Willig, EG Farrow, LD Smith, JE Petrikin, ...
Science translational medicine 6 (265), 265ra168-265ra168, 2014
5282014
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
W Li, Q Zhang, N Oiso, EK Novak, R Gautam, EP O'Brien, CL Tinsley, ...
Nature genetics 35 (1), 84-89, 2003
4942003
An integrated clinico-metabolomic model improves prediction of death in sepsis
RJ Langley, EL Tsalik, JC Velkinburgh, SW Glickman, BJ Rice, C Wang, ...
Science translational medicine 5 (195), 195ra95-195ra95, 2013
4902013
Gene expression signatures diagnose influenza and other symptomatic respiratory viral infections in humans
AK Zaas, M Chen, J Varkey, T Veldman, AO Hero, J Lucas, Y Huang, ...
Cell host & microbe 6 (3), 207-217, 2009
4462009
A highly annotated whole-genome sequence of a Korean individual
JI Kim, YS Ju, H Park, S Kim, S Lee, JH Yi, J Mudge, NA Miller, D Hong, ...
nature 460 (7258), 1011-1015, 2009
4002009
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
L Farnaes, et al
NPJ GENOMIC MEDICINE 3, 2018
3852018
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Lancet Respiratory Medicine, 2015
3822015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
KSF Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T ...
Genomic Medicine 7, 100, 2015
346*2015
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