

Chief, Analytic and Translational Genetics Unit, Massachusetts General Hospital
WebsiteFunded Projects
SPARKing a global gene discovery effort in autism: Analysis of single nucleotide variants and indels
Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Accelerating autism genetics via whole-population ascertainment in Denmark
Awarded: 2013
Award Type: Research
Award Type: Research
Comprehensive follow-up of novel autism genetic discoveries
Awarded: 2007
Award Type: Research
Award Type: Research
SFARI Funded Publications
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne H.O., Baez-Nieto D., Iqbal S., Palmer D.S., Brunklaus A., May P., Epi25 Collaborative, Johannesen K.M., Lauxmann S., Lemke J.R., Møller R.S., Pérez-Palma E., Scholl U.I., Syrbe S., Lerche H., Lal D., Campbell A.J., Wang H.-R., Pan J., Daly M.
A structural variation reference for medical and population genetics.
Collins R.L., Brand H., Karczewski K.J., Zhao X., Alföldi J., Francioli L.C., Khera A.V., Lowther C., Gauthier L.D., Wang H., Watts N.A., Solomonson M., O’Donnell-Luria A., Baumann A., Munshi R., Walker M., Whelan C.W., Huang Y., Brookings T., Sharpe T., Stone M.R., Valkanas E., Fu J., Tiao G., Laricchia K.M., Ruano-Rubio V., Stevens C., Gupta N., Cusick C., Margolin L., Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Taylor K.D., Lin H.J., Rich S.S., Post W.S., Chen Y.-D.I., Rotter J.I., Nusbaum C., Philippakis A., Lander E., Gabriel S., Neale B.M., Kathiresan S., Daly M., Banks E., MacArthur D.G., Talkowski M.
A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.
Nudel R., Appadurai V., Schork A.J., Buil A., Bybjerg-Grauholm J., Daly M., Mors O., Hougaard D.M., Mortensen P.B., Werge T., Nordentoft M., Thompson W.K., Benros M.E.
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