Publications

25 Results (Filters Applied)
  • Neuropsychiatric Disease x
Nature Genetics. 2021 July 26.

Recent ultra-rare inherited variants implicate new autism candidate risk genes.

Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara H. Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael A. Bernier, The SPARK Consortium, Michael C. Zody & Evan E. Eichler

Human Genomics. 2021 July 13.

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Evin M Padhi, Tristan J Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D Hunter, Jennifer Akiyama, Lauren E Fries, Jeffrey K Ng, Elvisa Mehinovic, Nick Stong, Andrew S Allen, Diane E Dickel, Raphael A Bernier, David U Gorkin, Len A Pennacchio, Michael C Zody, Tychele N Turner

Trials. 2021 Jan. 14.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.

Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE.

Nature Methods. 2021 Jan. 4.

Quantum computing at the frontiers of biological sciences.

Prashant S. Emani, Jonathan Warrell, Alan Anticevic, Stefan Bekiranov, Michael Gandal, Michael J. McConnell, Guillermo Sapiro, Alán Aspuru-Guzik, Justin T. Baker, Matteo Bastiani, John D. Murray, Stamatios N. Sotiropoulos, Jacob Taylor, Geetha Senthil, Thomas Lehner, Mark B. Gerstein & Aram W. Harrow

npj Genomic Medicine. 2020 December 15.

Clinical utility of genomic sequencing: a measurement toolkit.

Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley & Medical Genome Initiative

This work was partially supported by a gift from the Simons Foundation.