Leal, Suzanne M.

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,613

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

Li, B., & Leal, S. M. (2008) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,527

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

Excess of rare, inherited truncating mutations in autism

Krumm, N., Turner, T. N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B. P., Stessman, H. A., He, Z.-X., et al. (2015) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 587

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

National Heart, L., Boileau, C., Guo, D.-C., Hanna, N., Regalado, E. S., Detaint, D., Gong, L., Varret, M., Prakash, S. K., Li, A. H., et al. (2012) · Nature Genetics

Connective tissue disorders researchAortic Disease and Treatment Approaches

Cited by 382

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 337

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

Li, B., & Leal, S. M. (2009) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 142

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction

Yuferov, V., Fussell, D., LaForge, K. S., Nielsen, D. A., Gordon, D., Ho, A., Leal, S. M., Ott, J., & Kreek, M. J. (2004) · Pharmacogenetics

Neuropeptides and Animal PhysiologyNeurotransmitter Receptor Influence on Behavior

Cited by 128

Frequency and complexity of de novo structural mutation in autism

Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 104

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., et al. (2014) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsCongenital Ear and Nasal Anomalies

Cited by 58

Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.

Chung, W. K., Luke, A., Cooper, R. S., Rotini, C., Vidal-Puig, A., Rosenbaum, M., Chua, M., Solanes, G., Zheng, M., Zhao, L., et al. (1999) · Diabetes

Mitochondrial Function and PathologyAdipose Tissue and Metabolism

Cited by 48