Stacey Bolk Gabriel, PhD.
`
`Research and Management Experience
`
`Broad Institute of MIT and Harvard (formerly Whitehead Institute Center for Genome Research)
`11/98 - Present
`
`Director, Genomics Platform, Broad Institute of Harvard and MIT, 5/2012 - Present
`° Direct the Broad Institute's largest platform. and the largest US genome center, comprising 180
`people dedicated to all sample handling, microarray, genotyping, and sequencing activities.
`° Responsible for $90M annual budget for genomic activities.
`' Oversee project management and data analysis activities, primarily in support of cancer and
`medical genetics.
`° Oversee technology development and evaluation and implementation of new technology
`platforms.
`In addition, maintain all leadership activities listed below (as Program Clo-Director)
`
`'
`
`Co-Director. Genome Sequence and Analysis Program and Medical and Population Genetics Program, Broad
`Institute of Harvard and MIT, 1/2009 — 5/2012
`
`0 Responsible for planning, execution and delivery of a portfolio of cancer and medical
`sequencing projects as part of the NHGRI Large-scale sequencing grant (PI, Lander) with a
`budget total of ~$40M annually.
`' At most recent Large-scale sequencing grant renewal named Co-PI with Eric Lander.
`° As Principle Investigator (PI), secured over $100M in other NIH awards over a period of 5
`years aimed at large scale genotyping and sequencing.
`' Direct the activity of cross-disciplinary teams, totaling 60 people, including project managers,
`analysts, computational biologists and software engineers in the analysis of next-gen sequence
`data as applied to an array of cancer genomics and medical genetics projects.
`Serve as co-chair of Data Production committee for the International 1000 Genome Project. as
`well as serving as a member of the Executive and Steering committee for The Cancer Genome
`Atlas.
`
`0
`
`Director. Genetic Analysis Platform, Broad Institute of Harvard and MIT. 5/2004 — 1/2009
`0 Responsible for creating, scaling and directing the Genetic Analysis Platform of the Broad
`Institute. The platform encompasses all production and data management activities related to
`nucleic acid analysis (gene expression, genotyping, re—sequencing).
`0 At peak period (2006-2008) operated the platform with yearly revenue of $45 million,
`overseeing a staff of 65 individuals (project managers, research scientists, software engineers
`and computational biologists).
`0 Key milestones included producing microarray data on over 1000.000 DNA samples over an 18
`month period.
`' Directed data production for over 50 publications describing Genome—wide Association
`findings.
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`Associate Director, High throughput biology, Medical and Population Genetics Program. Whitehead institute
`Center for Genome Research, 5/2003 - 5/2004
`'
`in this role spearheaded the expansion of SNP genotyping activity from targeted activity for
`Human HapMap project to a centralized technology platform with dedicated activity in
`technology development, large-scale production, data management and analysis.
`0 Oversaw successful completion of the Whitehead's contribution to the Human Hap Map project
`($10 M project).
`
`Scientific Director, SNP genotyping / HapMap Program, Whitehead Institute Center for Genome Research,
`2/2002 — 5/2003
`
`0 Responsible for all aspects of the center’s contribution to the International HapMap Project.
`0 Oversaw a team of 15 technicians, analysts and software engineers.
`'
`Played active role in project design and quality control.
`0
`Served on International HapMap project Steering committee.
`
`Research Scientist, Program in Medical and Population Genetics, Whitehead institute Center for Genome
`Research, 1 1/98 — 2/2002
`0
`lnvesti gated the haplotype structure of the human genome. Research resulting in first author
`Science publication, widely regarded as laying the foundation for the Human HapMap project.
`Technical development and implementation of the first platforms to be used for large high
`throughput SNP genotyping
`
`'
`
`Graduate Student, Department of Genetics, Case Western Reserve University, Cleveland, OH, 1/94— 11/98
`Advisor: Aravinda Chakravarti, PhD.
`' Dissertation “Genetic Dissection of Complex Human Disease"
`
`Research Assistant, Department of Human Genetics, Chakravarti Lab, University of Pittsburgh, Pittsburgh,
`PA, 5/92-1/94
`° Conducted lab work and phlebotomy in support of human genetic studies
`
`Education and degrees
`
`Doctor of Philosophy, Genetics. Case Western Reserve University, Department of Genetics, 1998.
`Dissertation: Hirschsprung disease: Genetic dissection of a complex phenotype. Advisor: Aravinda Chakravarti.
`
`Bachelor of Science, Molecular Biology. Carnegie Mellon University, Pittsburgh, PA, 1993.
`
`Peer Review and other Extramural Activities
`
`February 2007-present External Advisory Committee, NHLBI Resequencing and Genotyping Service
`March 2008-present
`External Advisory Committee, USC Epi genome Center
`November 2008-2009 Editorial Board, Human Genetics
`February, 2009
`Genomics, Computational Biology and Technology, Ad Hoc reviewer
`March 2009
`Editorial Board, Genome Research
`July.2009
`NHLBI Special Emphasis Panel
`July, 2009-present
`Genomics, Computational Biology and Technology, Study section, Standing member
`January 2010 - present Genome Canada Science and Industry Advisory Committee, Member
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`August 201 l — present Scientific Advisory Board, PAAR4K1DS. St. Jude Research Hospital
`
`Publications
`ANGRIST, M., S. BOLK, K. BENTLEY, S. NALLASAMY, M. K. HALUSHKA et al., 1998 Genomic
`structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB 10 and
`evaluation of its role in Hirschsprung disease. Oncogene 17: 3065-3070.
`ANGRIST, M., S. BOLK, M. HALUSHKA, P. A. LAPCHAK and A. CHAKRAVARTI, 1996 Germline
`mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease
`patient. Nat Genet 14: 341-344.
`ANGRIST, M., S. BOLK, B. THIEL, E. G. PUFFENBERGER, R. M. HOFSTRA et al., 1995 Mutation analysis
`of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4: 821-830.
`ANGRIST, M., S. JING, S. BOLK, K. BENTLEY, S. NALLASAMY et al., 1998 Human GFRAI: cloning.
`mapping. genomic structure. and evaluation as a candidate gene for Hirschsprung disease susceptibility.
`Genomics 48: 354-362.
`BOLK, S.. M. ANGRIST, S. SCHWARTZ, J. M. SILVESTRI, D. E. WEESE—MAYER et al., 1996 Congenital
`central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am J Med
`Genet 63: 603-609.
`BOLK, S., M. ANGRIST, J. XIE. M. YANAGISAWA, J. M. SILVESTRI et al., 1996 Endothelin-3 frameshift
`mutation in congenital central hypoventilation syndrome. Nat Genet 13: 395-396.
`BOLK, S.. A. FELET, R. M. HOFS'I‘RA, M. ANGRIST, R. SALOMON er al., 2000 A human model for
`multigenic inheritance: phenotypie expression in Hirschsprung disease requires both the REF gene and
`a new 9q31 locus. Proc Natl Acad Sci U S A 97: 268-273.
`BOLK, S., E. G. PUFFENBERGER, .l. HUDSON. D. H. MORTON and A. CHAKRAVAR’I‘I. 1999 Elevated
`frequency and allelic heterogeneity of congenital nephrotic syndrome. Finnish type, in the old order
`Mennonites. Am J Hum Genet 65: 1785-1790.
`BUSTAMANTE. M.. F. ROGER, M. L. BOCHATON—PIALLAT, G. GABBIANI, P. Y. MARTIN et al., 2003
`Regulatory volume increase is associated with p38 kinase-dependent actin cytoskeleton remodeling in
`rat kidney MTAL. Americanjournal of physiology. Renal physiology 285: F336—347.
`DE BAKKER, P. I.. R. YELENSKY. I. PE‘ER. S. B. GABRIEL. M. J. DALY et al., 2005 Efficiency and power
`in genetic association studies. Nat Genet 37: 1.217-1223.
`FREEDMAN, M. L., D. REICH, K. L. PENNEY. G. J. MCDONALD. A. A. MIGNAULT er al., 2004
`Assessing the impact of population stratification on genetic association studies. Nat Genet 36: 388-393.
`GABRIEL, 8.. and L. ZIAUGRA. 2004 SNP genotyping using Sequenom MassARRAY 7K platform. Current
`protocols in human genetics I editorial board. Jonathan L. Haines
`[et al.] Chapter 2: Unit 2 12.
`GABRIEL, S. B.. R. SALOMON. A. PELET. M. ANGRIST, J. AMIEL et al., 2002 Segregation at three loci
`explains familial and population risk in Hirschsprung disease. Nat Genet 31: 89-93.
`GABRIEL, S. 13.. S. F. SCHAFFNER, H. NGUYEN. J. M. MOORE, J. ROY et al., 2002 The structure of
`haplotype blocks in the human genome. Science 296: 2225-2229.
`KA’I‘HIRESAN, S., S. B. GABRIEL. Q. YANG, A. L. LOCHNER, M. G. LARSON et al., 2005
`Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and
`relations to circulating plasminogen activator inhibitor-1 levels. Circulation 112: 1728-1735.
`KATHIRESAN, S., Q. YANG, M. G. LARSON, A. L. CAMARGO, G. H. TOFLER et al., 2006 Common
`genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and
`cardiovascular disease risk. Arterioscler Thromb Vasc Biol 26: 1405-1412.
`LEE, J. C., I. VIVANCO. R. BEROUKHIM. J. H. HUANG. W. L. FENG el al., 2006 Epidermal growth factor
`receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS
`Med 3: e485.
`LEVINE. R. l... M. WADLE'IGH. .l. COOLS. B. l... EBERT. G. WERNIG et al., 2005 Activating mutation in
`the tyrosine kinase JAKZ in polycythemia vera, essential thrombocythemia, and myeloid metaplasia
`with myeiofibrosis. Cancer Cell 7: 387—397.
`_
`MCCARROLL. S. A.. T. N. HADNO’I‘T. G. H. PERRY, P. C. SABETI. M. C. ZODY et al., 2006 Common
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`deletion polymorphisms in the human genome. Nat Genet 38: 86-92.
`MEIGS, J. B., J. DUPUIS, C. LIU, C. J. O'DONNELL, C. S. FOX et al., 2006 PAI-l Gene 4G/5G
`polymorphism and risk of type 2 diabetes in a population-based sample. Obesity (Silver Spring) 14:
`753-758.
`PAEZ, J. G., P. A. JANNE, J. C. LEE, S. TRACY, H. GREULICH er al., 2004 EGFR mutations in lung cancer:
`correlation with clinical response to gefitinib therapy. Science 304: 1497-1500.
`PAEZ, J. G., M. LIN, R. BEROUKHIM, J. C. LEE, X. ZHAO er al., 2004 Genome coverage and sequence
`fidelity of ph129 polymerase-based multiple strand displacement whole genome amplification. Nucleic
`Acids Res 32: 671.
`REICH, D. E., S. B. GABRIEL and D. ALTSHULER, 2003 Quality and completeness of SNP databases. Nat
`Genet 33: 457-458.
`SABETI, P. C., D. E. REICH, J . M. HIGGINS, H. 2. LEVINE, D. J. RICHTER et al., 2002 Detecting recent
`positive selection in the human genome from haplotype structure. Nature 419: 832-837.
`SCHAFFNER, S. F., C. FOO, S. GABRIEL, D. REICH, M. J. DALY et al., 2005 Calibrating a coalescent
`simulation of human genome sequence variation. Genome Res 15: 1576-1583.
`SKLAR, P., S. B. GABRIEL, M. G. MCINNIS, P. BENNETT, Y. M. LIM et al., 2002 Family-based
`association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-
`derived neutrophic factor. Mol Psychiatry 7: 579—593.
`.
`WEESE-MAYER, D. E., S. BOLK, J. M. SILVESTRI and A. CHAKRAVARTI, 2002 Idiopathic congenital
`central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA
`sequence variation. Am J Med Genet 107: 306-310.
`WINCKLER, W., S. R. MYERS, D. J. RICHTER, R. C. ONOFRIO, G. J. MCDONALD et al., 2005
`Comparison of fine-scale recombination rates in humans and chimpanzees. Science 308: 107-111.
`FRAZER, K. A., D. G. BALLINGER, D. R. COX, D. A. HINDS, L. L. STUVE et al., 2007 A second
`generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861.
`MANOLIO, T. A., L. L. RODRIGUEZ, L. BROOKS, G. ABECASIS, D. BALLINGER et al., 2007 New
`models of collaboration in genome-wide association studies: the Genetic Association Information
`Network. Nat Genet 39: 1045-1051.
`PLENGE, R. M., C. COTSAPAS, L. DAVIES, A. L. PRICE, P. I. DE BAKKER et al., 2007 Two independent
`alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 39: 1477-1482.
`SABETI, P. C., P. VARILLY, B. FRY, J. LOHMUELLER, E. HOSTETTER et al., 2007 Genome-wide
`detection and characterizatitm of positive selection in human populations. Nature 449: 913-918.
`SAXENA, R., B. F. VOIGHT, V. LYSSENKO, N. P. BURTT. P. 1. DE BAKKER 2:01.,2007 Genome—wide
`association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336.
`THOMAS, R. K., A. C. BAKER, R. M. DEBIASI, W. WINCKLER, T. LAFRAMBOISE er al., 2007 High—
`throughput oncogene mutation profiling in human cancer. Nat Genet 39: 347-351.
`WEIR, B. A., M. S. WOO, G. GETZ, S. PERNER, L. DING et al., 2007 Characterizing the cancer genome in
`lung adenocarcinoma. Nature 450: 893-898.
`DING. L., G. GETZ, D. A. WHEELER, E. R. MARDIS, M. D. MCLELLAN et a1., 2008 Somatic mutations
`affect key pathways in lung adenocarcinoma. Nature 455: 1069—1075.
`DUTI‘, A., H. B. SALVESEN, T. H. CHEN, A. H. RAMOS, R. C. ONOFRIO et al., 2008 Drug-sensitive
`FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A 105: 8713-8717.
`FERREIRA, M. A., M. C. O'DONOVAN, Y. A. MENG, I. R. JONES, D. M. RUDERFER et al., 2008
`Collaborative genome-wide association analysis supports a role for ANK3 and CACNAlC in bipolar
`disorder. Nature genetics 40: 1056—1058.
`KEATING, B. J., S. TISCHFIELD, S. S. MURRAY, T. BHANGALE, T. S. PRICE et al., 2008 Concept, design
`and implementation of a cardiovascular gene-centric 50 k SNP array for large—scale genomic association
`studies. PLOS One 3: e3583.
`KORN, J. M., F. G. KURUVILLA, S. A. MCCARROLL, A. WYSOKER, J. NEMESH et al., 2008 Integrated
`genotype calling and association analysis of SNPs, common copy number polymorphisms and rare
`CNVs. Nat Genet 40: 1253—1260.
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`MCCARROLL, S. A., F. G. KURUVILLA, J. M. KORN, S. CAWLEY, J. NEMESH er al., 2008 Integrated
`detection and population-genetic analysis of SNPs and copylnumber variation. Nat Genet 40: 1166-
`1174.
`BIRNEY, E.,T. J. HUDSON, E. D. GREEN, C. GUNTER, S. EDDY er al., 2009 Prepublication data sharing.
`Nature 461: 168-170.
`GABRIEL, S., L. ZIAUGRA and D. TABBAA, 2009 SN? genotyping using the Sequenom MassARRAY
`iPLEX platform. Current protocols in human genetics / editorial board, Jonathan L. Haines
`[et al.]
`Chapter 2: Unit 2 12.
`GNIRKE, A., A. MELNIKOV, J. MAGUIRE, P. ROGOV, E. M. LEPROUS'I‘ et al., 2009 Solution hybrid
`selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol
`27: 182-189.
`-
`GREENWAY, S. C., A. C. PEREIRA, J. C. LIN, S. R. DEPALMA, S. J. ISRAEL et al., 2009 De novo copy
`number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 41: 931-
`935.
`HOSHIDA, Y., S. M. NIJMAN, M. KOBAYASHI, J. A. CHAN. J. P. BRUNEI et al., 2009 Integrative
`transcriptome analysis reveals common molecular subclasses of human hepatocellular carcinoma.
`Cancer research 69: 7385-7392.
`MTHIRESAN, S., B. F. VOIGHT, S. PURCELL, K. MUSUNURU, D. ARDISSINO er al., 2009 Genome-
`wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy
`number variants. Nat Genet 41: 334-341.
`PATTERSON, N., and S. GABRIEL, 2009 Combinatorics and next-generation sequencing. Nature
`biotechnology 27: 826-827.
`SABA'I‘TI, C., S. K. SERVICE, A. L. HARTIKAINEN, A. POUTA, S. RIPAT'I‘I et al., 2009 Genome-wide
`association analysis of metabolic traits in a birth cohort from a founder population. Nature genetics 41:
`35-46.
`ALTSHULER, D. M., R. A. GIBBS, L. PELTONEN. E. DERMITZAKIS, S. F. SCHAFFNER et al., 2010
`Integrating common and rare genetic variation in diverse human populations. Nature 467: 52-58.
`BERGER, M. F., J. Z. LEVIN, K. VIJAYENDRAN, A. SIVACHENKO, X. ADICONIS et al., 2010 Integrative
`analysis of the melanoma transcriptome. Genome Res 20: 413-427.
`BEROUKI-IIM, R., C. H. MERMEL, D. PORTER, G. WEI, S. RAYCHAUDHURI et al., 2010 The landscape
`of somatic copy-number alteration across human-cancers. Nature 463: 899-905.
`BLUMENSTIEL, B., K. CIBULSKIS, S. FISHER, M. DEFELICE, A. BARRY et al., 2010 Targeted exon
`sequencing by in-solution hybrid selection. Current protocols in human genetics / editorial board,
`Jonathan L. Haines
`[et al.] Chapter 18: Unit 18 14.
`CALVO, S. E., E. J. TUCKER, A. G. COMPTON, D. M. KIRBY, G. CRAWFORD er al., 2010 High-
`throughput, pooled sequencing identifies mutations in NUBPL and FOXREDI in human complex I
`deficiency. Nat Genet 42: 851-858.
`MCKENNA. A., M. HANNA, E. BANKS, A. SIVACHENKO, K. CIBULSKIS et al., 2010 The Genome
`Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
`Genome Res 20: 1297-1303.
`MEYERSON, M., S. GABRIEL and G. GEI‘Z, 2010 Advances in understanding cancer genomes through
`second-generation sequencing. Nat Rev Genet 11: 685-696.
`MUSUNURU, K., G. LETTRE, T. YOUNG, D. N. FARLOW, J. P. PIRRUCCELLO et al., 2010 Candidate
`gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet 3:
`267-275.
`MUSUNURU, K., J. P. PIRRUCCELLO, R. DO, G. M. FELOSO, C. GUIDUCCI et al., 2010 Exome
`sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 363: 2220-
`2227.
`TESLOVICH, T. M., K. MUSUNURU, A. V. SMITH, A. C. EDMONDSON, I. M. STYLIANOU et al., 2010
`Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466: 707-713.
`VALENTE, E. M., C. V. LOGAN, S. MOUGOU-ZERELLI, J. H. LEE, J. L. SILHAVY er al., 2010 Mutations
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`in TMEM216 perturb ciliogenesis and cause .loubert, Meckel and related syndromes. Nat Genet 42:
`619-625.
`BASS, A. J., M. S. LAWRENCE, L. E. BRACE, A. H. RAMOS, Y. DRIER et al., 2011 Genomic sequencing of
`colorectal adenocarcinomas identifies a recurrent VTIlA-TCF7L2 fusion. Nat Genet 43: 964-968.
`BERGER, M. F ., M. S. LAWRENCE, F. DEMICHELIS, Y. DRIER, K. CIBULSKIS et (11., 2011 The genomic
`complexity of primary human prostate cancer. Nature 470: 214-220.
`CHAPMAN, M. A., M. S. LAWRENCE, J. J. KEATS, K. CIBULSKIS, C. SOUGNEZ et al., 2011 Initial
`genome sequencing and analysis of multiple myeloma. Nature 471: 467-472.
`CALISKAN, M., J. X. CHONG, L. URICCHIO, R. ANDERSON, P. CHEN e1al., 2011 Exome sequencing
`reveals a novel mutation for autosomal recessive non—syndromic mental retardation in the TECR gene
`on chromosome 19p] 3. Human molecular genetics 20: 1285-1289.
`DEPRISTO, M. A., E. BANKS, R. POPLIN, K. V. GARIMELLA, J. R. MAGUIRE er al., 2011 A framework
`for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43: 491-
`498.
`FISHER, S.,A. BARRY, J. ABREU, B. MINIE, J. NOLAN et al., 2011 A scalable, fully automated process for
`construction of sequence-ready human exome targeted capture libraries. Genome biology 12: R1 .
`LE'I'I‘RE, G., C. D. PALMER, T. YOUNG, K. G. EJEBE. H. ALLAYEE et al., 2011 Genome-wide association
`study of coronary heart disease and its risk factors in 8.090 African Americans: the NHLBI CARe
`Project. PLoS Genet 7: e1001300.
`MARTH, G. T., F. YU, A. R. INDAP, K. GARIMELLA, S. GRAVEL et al.. 20] l The functional spectrum of
`low-frequency coding variation. Genome Biol 12: R84.
`RIVAS, M. A., M. BEAUDOIN, A. GARDET, C. STEVENS, Y. SHARMA et al., 2011 Deep resequencing of
`GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet
`43: 1066-1073.
`SHEA, J., V. AGARWALA, A. A. PHILIPPAKIS, J. MAGUIRE, E. BANKS et al.. 2011 Comparing strategies
`to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial
`infarction. Nat Genet 43: 801-805.
`STRANSKY, N., A. M. EGLOFF, A. D. TWARD, A. D. KOSTIC, K. CIBULSKIS et (11.. 2011 The mutational
`landscape of head and neck squamous cell carcinoma. Science 333: 1157-1160.
`WANG, L., M. S. LAWRENCE, Y. WAN, P. STOJANOV, C. SOUGNEZ et al., 20]] SF3Bl and other novel
`cancer genes in chronic lymphocytic leukemia. N Engl J Med 365: 2497-2506.
`BANERJI, S., K. CIBULSKIS, C. RANGEL—ESCARENO, K. K. BROWN, S. L. CARTER et al., 2012
`Sequence analysis of mutations and translocations across breast cancer subtypes. Nature 486: 405-409.
`BARBIERI, C. E., S. C. BACA, M. S. LAWRENCE, F. DEMICHELIS, M. BLATTNER et al., 2012 Exome
`sequencing identifies recurrent SPOP, FOXAl and MED12 mutations in prostate cancer. Nature
`genetics 44: 685-689.
`BARRETINA, J., G. CAPONIGRO, N. STRANSKY, K. VENKATESAN , A. A. MARGOLIN er al., 2012 The
`Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature 483:
`603-607.
`BERGER, M. F., E. HODIS, T. P. HEFFERNAN, Y. L. DERIBE, M. S. LAWRENCE at al., 2012 Melanoma
`genome sequencing reveals frequent PREX2 mutations. Nature 485: 502-506.
`BICK, A. G., J. FLANNICK, K. ITO, S. CHENG. R. S. VASAN et al.. 2012 Burden of rare sarcomere gene
`variants in the framingham and jackson heart study cohorts. American journal of human genetics 91:
`513-519.
`CHAHROUR, M. H., T. W. YU, B. T. LIM, B. ATAMAN, M. E. COULTER et al., 2012 Whole-exome
`sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
`PLoS genetics 8: e1002635.
`DIXON-SALAZAR.T. J., J. L. SILHAVY, N. U‘DPA, J. SCHROTH, S. BIELAS et al., 2012 Exome
`sequencing can improve diagnosis and alter patient management. Science translational medicine 4:
`138ra178.
`-
`HAMMERMAN, P. S., M. S. LAWRENCE, D. VOEI‘, R. JING, K. CIBULSKIS er al., 2012 Comprehensive
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`genomic characterization of squamous cell lung cancers. Nature.
`HODIS.E.,1. R. WATSON, G. V. KRYUKOV, S. T. AROLD. M. IMIELINSKI et al., 2012 A landscape of
`driver mutations in melanoma. Cell 150: 251-263.
`LEE. J. H., M. HUYNH, J. L. SILHAVY, S. KIM, T. DIXON-SALAZAR et al., 2012 De novo somatic
`mutations in components of the PISK-AKT3-mTOR pathway cause hemimegalencephaly. Nature
`genetics 44: 941 -945.
`LARMAN, T. C., S. R. DEPALMA, A. G. HADJIPANAYIS, A. PROTOPOPOV. J. ZHANG et al., 2012
`Spectrum of somatic mitochondrial mutations in five cancers. Proceedings of the National Academy of
`Sciences of the United States of America 109: 14087-14091.
`LEE, J. H., J. L. SILHAVY, J. E. LEE, L. AL-GAZALI, S. THOMAS et al., 2012 Evolutionarily assembled cis-
`regulatory module at a human ciliopathy locus. Science 335: 966-969.
`MARTINEZ, F. J., J. H. LEE, J. E. LEE. S. BLANCO, E. NICKERSON er al., 2012 Whole exome sequencing
`identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. Journal of medical
`genetics 49: 380-385.
`MUSUNURU, K., S. P. ROMAINE, G. LEI‘TRE, J. G. WILSON, K. A. VOLCIK et al., 2012 Multi-ethnic
`analysis of lipid-associated loci: the NHLBI CARe project. PLoS One 7: 636473.
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`Petitioner Sequenom - EX. 1011, p. 7
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`Petitioner Sequenom - Ex. 1011, p. 7
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