Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery.

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Tan AC, Fan J-B, Karikari C, Bibikova M, Garcia EW, Zhou L, Barker D, Serre D, Feldmann G, Hruban RH, Klein AP, Goggins M, Couch FJ, Hudson TJ, Winslow RL, Maitra A, Chakravarti A: Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery. Cancer Biol Therapy 7:135-144, 2008. PMID 18059179. PMC4104667.

A recurrent genetic cause of autism: microdeletion at 16p11.2.

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Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Ferreira MAR, Green T, Platt OS, Ruderfer DM, Tanzi1 RE, Walsh CA, Investigators of the Autism Consortium, Chakravarti A, Santangelo SL, Gusella JF, Sklar P, Wu B-L, Daly MJ: A recurrent genetic cause of autism: microdeletion at 16p11.2. New Engl J Med 358:667-675, 2008. PMID 18184952.

A common genetic variant in neurexin-superfamily member CNTNAP2 exhibits a parent-of-origin association with autism.

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Arking DE, Cutler DJ, Brune CW, Teslovich TM, Kristen West, Ikeda M, Rea A, Guy M, Lin S, Cook EH Jr., Chakravarti A: A common genetic variant in neurexin-superfamily member CNTNAP2 exhibits a parent-of-origin association with autism. Amer J Hum Genet 82:160-164, 2008. PMID 18179894.

Hirschsprung disease: associated syndromes and genetics.

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Amiel J, Sproat-Emison E, Garcia-Barceo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, De Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R. Hirschsprung disease: associated syndromes and genetics. J Med Genet 45:1-14, 2008. PMID 17965226.

Genome-wide detection and characterization of positive selection in human populations.

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Sabeti P and The International HapMap Consortium: Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918, 2007. PMID 17946131. PMC2687721.

A second-generation human haplotype map of over 3.1 million SNPs.

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The International HapMap Consortium: A second-generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861, 2007. PMID 17943122. PMC2689609.

Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits.

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Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagaraja R, Orru M, Usala G, Dei M, Lai S, Maschio A, Busonero F, Mulas A, Ehret GB, Fink AA, Weder AB, Cooper RS, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E, Abecasis GR: Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits. PLoS Genet 3:e115, 2007. PMID 17658951. PMC194391.

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture.

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Gherman A, Chen PE, Teslovich TM, Stankiewicz P, Withers M, Kashuk CS, Chakravarti A, Lupski JR, Cutler DJ, Katsanis N: Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture. PLoS Genet 3:e119, 2007. PMID 17658953. PMC1925129.

An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.

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Wen G, Wessel J, Zhou W, Ehret GB, Rao F, Stridsberg M, Mahata S, Gent PM, Das M, Cooper RS, Chakravarti A, Zhou H, Schork NJ, O’Connor DT, Hamilton BA: An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension. Hum Mol Genet 16:1752-1764, 2007. PMID 17584765. PMC2695823.

Associations between Genetic Variants in the NOS1AP (CAPON) Gene and Cardiac Repolarization in the Old Order Amish.

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Post W, Shen H, Damcott C, Arking DE, Kao WHL, Sack PA, Ryan KA, Chakravarti A, Mitchell BD, Shuldiner AR: Associations between Genetic Variants in the NOS1AP (CAPON) Gene and Cardiac Repolarization in the Old Order Amish. Hum Hered 64:214-219, 2007. PMID 17565224. PMC2880727.