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Pedro Cruz
Pedro Cruz
resilience rnd
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Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4
TD Prickett, NS Agrawal, X Wei, KE Yates, JC Lin, JR Wunderlich, ...
Nature genetics 41 (10), 1127-1132, 2009
4162009
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
4082011
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
LG Biesecker, JC Mullikin, FM Facio, C Turner, PF Cherukuri, ...
Genome research 19 (9), 1665-1674, 2009
3002009
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet [alpha]-granules
M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, ...
Nature genetics 43 (8), 732-734, 2011
2832011
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ...
The American Journal of Human Genetics 87 (4), 560-566, 2010
2272010
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
TM Pierson, D Adams, F Bonn, P Martinelli, PF Cherukuri, JK Teer, ...
PLoS Genetics 7 (10), e1002325, 2011
2142011
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
M Gunay-Aygun, Y Zivony-Elboum, F Gumruk, D Geiger, M Cetin, ...
Blood 116 (23), 4990, 2010
1692010
Evidence for a wounding-induced xylem occlusion in stems of cut chrysanthemum flowers
WG van Doorn, P Cruz
Postharvest biology and technology 19 (1), 73-83, 2000
992000
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution
X Wang, N Mitra, I Secundino, K Banda, P Cruz, V Padler-Karavani, ...
Proceedings of the National Academy of Sciences, 2012
892012
Predisposition to cancer caused by genetic and functional defects of mammalian Atad5
DW Bell, N Sikdar, K Lee, JC Price, R Chatterjee, HD Park, J Fox, M Ishiai, ...
PLoS genetics 7 (8), e1002245, 2011
872011
Light whole genome sequence for SNP discovery across domestic cat breeds
J Mullikin, N Hansen, L Shen, H Ebling, W Donahue, W Tao, D Saranga, ...
BMC genomics 11 (1), 406, 2010
742010
Mutational and Functional Analysis Reveals ADAMTS18 Metalloproteinase as a Novel Driver in Melanoma
X Wei, TD Prickett, CG Viloria, A Molinolo, JC Lin, I Cardenas-Navia, ...
Molecular Cancer Research 8 (11), 1513, 2010
682010
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
TM Pierson, DR Simeonov, M Sincan, DA Adams, T Markello, G Golas, ...
European Journal of Human Genetics 20 (4), 476-479, 2011
632011
Evolution of Siglec-11 and Siglec-16 Genes in Hominins.
X Wang, N Mitra, P Cruz, L Deng, N Varki, T Angata, E Green, J Mullikin, ...
Molecular biology and evolution, 2012
542012
Incidental Medical Information in Whole-Exome Sequencing
BD Solomon, DW Hadley, DE Pineda-Alvarez, A Kamat, JK Teer, ...
Pediatrics, 2012
442012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
TM Pierson, D Adams, T Markello, F Golas, S Yang, M Sincan, ...
Neurology, 2011
412011
Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A
JC Price, LM Pollock, ML Rudd, SK Fogoros, H Mohamed, CL Hanigan, ...
PloS one 8 (6), e63313, 2013
362013
Novel somatic mutations in heterotrimeric G proteins in melanoma
LI Cárdenas-Navia, P Cruz, JC Lin, SA Rosenberg, Y Samuels
Cancer biology & therapy 10 (1), 33-37, 2010
312010
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of< i> MEGF10</i> causing early onset myopathy, areflexia, respiratory distress and dysphagia …
TM Pierson, T Markello, J Accardi, L Wolfe, D Adams, M Sincan, ...
Neuromuscular Disorders, 2013
292013
Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1
ML Rudd, H Mohamed, JC Price, JO Andrea, M Le Gallo, ME Urick, ...
BMC cancer 14 (1), 884, 2014
252014
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