P. Cruz

发表

Research in Genomic Medicine the Clinseq Project: Piloting Large-scale Genome Sequencing for Material Supplemental

Alexander F. Wilson, A. F. Wilson, J. Mullikin, 2009 .

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

K. F. Fajardo, J. Mullikin, M. Sincan, 2013, Neuromuscular Disorders.

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Nancy F. Hansen, J. Lupski, J. Mullikin, 2010, American journal of human genetics.

Specific inactivation of two immunomodulatory SIGLEC genes during human evolution

S. Tishkoff, J. Mullikin, V. Nizet, 2012, Proceedings of the National Academy of Sciences.

Evolution of siglec-11 and siglec-16 genes in hominins.

J. Mullikin, E. Green, T. Hayakawa, 2012, Molecular biology and evolution.

locus assignment to chromosome 3p Gray platelet syndrome: natural history of a large patient cohort and

J. Mullikin, N. Hansen, D. Geiger, 2011 .

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

J. Mullikin, N. Hansen, D. Geiger, 2010, Blood.

Personalized genomic medicine: lessons from the exome.

Nancy F. Hansen, J. Mullikin, N. Hansen, 2011, Molecular genetics and metabolism.

Predisposition to Cancer Caused by Genetic and Functional Defects of Mammalian Atad5

Nancy F. Hansen, Lana M. Pollock, T. Wolfsberg, 2011, PLoS genetics.

Light whole genome sequence for SNP discovery across domestic cat breeds

Nancy F. Hansen, J. Mullikin, S. O’Brien, 2010, BMC Genomics.

Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity

Warren W. Kretzschmar, S. Tishkoff, A. Clark, 2013, Genome biology and evolution.

Incidental Medical Information in Whole-Exome Sequencing

J. Mullikin, N. Hansen, D. Pineda-Alvarez, 2012, Pediatrics.

Mutational and Functional Analysis Reveals ADAMTS18 Metalloproteinase as a Novel Driver in Melanoma

Jimmy Lin, C. López-Otín, Xiaomu Wei, 2010, Molecular Cancer Research.

Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4

Jimmy Lin, Xiaomu Wei, S. Rosenberg, 2009, Nature Genetics.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts.

Ryan W. Kim, Cassandra N. Spracklen, A. Reiner, 2019, American journal of human genetics.

Mutational and Functional Analysis Reveals ADAMTS 18 Metalloproteinase as a Novel Oncogene in Melanoma

Jimmy Lin, C. López-Otín, Xiaomu Wei, 2011 .

Novel somatic mutations in heterotrimeric G proteins in melanoma

Jimmy Lin, Nisc Comparative Sequencing Program, S. Rosenberg, 2010, Cancer biology & therapy.

Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A

Lana M. Pollock, J. Mullikin, N. Hansen, 2013, PloS one.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

J. Mullikin, C. Boerkoel, W. Gahl, 2011, Nature Genetics.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Anthony Sandler, Nancy F. Hansen, Jamie K. Teer, 2011, PLoS genetics.

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

J. Mullikin, E. Rugarli, N. Hansen, 2013, PLoS Genetics.

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Nancy F. Hansen, J. Mullikin, N. Hansen, 2012, Neurology.

gangliosidosis 1 juvenile-onset GM Exome sequencing as a diagnostic tool in a case of undiagnosed

Nancy F. Hansen, K. F. Fajardo, J. Mullikin, 2012 .

Reproduction and immunity-driven natural selection in the human WFDC locus.

Eric D Green, James C Mullikin, Pedro Cruz, 2013, Molecular biology and evolution.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Murat Sincan, William A Gahl, Pedro Cruz, 2011, European Journal of Human Genetics.

Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1

T. Wolfsberg, J. Mullikin, N. Hansen, 2014, BMC Cancer.

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Nancy F. Hansen, Alexander F. Wilson, J. Mullikin, 2009, Genome research.

Databasewhole genome sequence for SNP discovery across domestic cat breeds

J. Mullikin, S. O’Brien, N. Hansen, 2010 .

Specific inactivation of two immunomodulatory SIGLEC genes during human evolution

S. Tishkoff, J. Mullikin, V. Nizet, 2012, Proceedings of the National Academy of Sciences.