Clinical application of whole-exome sequencing across clinical indications.

Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Juusola, Anne H. O’Donnell-Luria, Yufeng Shen, Wendy K. Chung, Mutations in ARID2 are associated with intellectual disabilities Neurogenetics. ,vol. 16, pp. 307- 314 ,(2015) , 10.1007/S10048-015-0454-0

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung, Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss American Journal of Human Genetics. ,vol. 97, pp. 457- 464 ,(2015) , 10.1016/J.AJHG.2015.07.014

Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han, Erin L Heinzen, Yuki Hitomi, Katherine B Howell, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Yi-Fan Lu, Maura RZ Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J O'Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K Ruzzo, Ingrid E Scheffer, Elliott H Sherr, Christopher J Yuskaitis, Epilepsy Phenome, Genome Project, Bassel Abou-Khalil, Brian K Alldredge, Jocelyn F Bautista, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Simon Glynn, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Shannon M McGuire, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Renée A Shellhaas, Jerry J Shih, Rani Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Epi4K Consortium, De novo mutations in epileptic encephalopathies Nature. ,vol. 501, pp. 217- 221 ,(2013) , 10.1038/NATURE12439

Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, Willemijn Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart L. Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton-Brown, Michael J. Parker, Alex Henderson, Sally A. Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury-Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster-Barber, Antonie D. Kline, Amy Kimball, Elaine Zackai, Margaret Harr, Joyce Fox, Julie McLaughlin, Kristin Lindstrom, Katrina M. Haude, Kees van Roozendaal, Han Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera Kalscheuer, Sarju G. Mehta, Nicholas Katsanis, Tjitske Kleefstra, Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling American Journal of Human Genetics. ,vol. 97, pp. 343- 352 ,(2015) , 10.1016/J.AJHG.2015.07.004

Nadirah Damseh, Alexandre Simonin, Chaim Jalas, Joseph A Picoraro, Avraham Shaag, Megan T Cho, Barak Yaacov, Julie Neidich, Motee Al-Ashhab, Jane Juusola, Sherri Bale, Aida Telegrafi, Kyle Retterer, John G Pappas, Ellen Moran, Joshua Cappell, Kwame Anyane Yeboa, Bassam Abu-Libdeh, Matthias A Hediger, Wendy K Chung, Orly Elpeleg, Simon Edvardson, Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination Journal of Medical Genetics. ,vol. 52, pp. 541- 547 ,(2015) , 10.1136/JMEDGENET-2015-103104

Geraldine A. Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran V. Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo, From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline Current protocols in human genetics. ,vol. 43, ,(2013) , 10.1002/0471250953.BI1110S43

Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar Magoulas, Anne Chun-Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro-Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard E. Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia, Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome American Journal of Human Genetics. ,vol. 95, pp. 579- 583 ,(2014) , 10.1016/J.AJHG.2014.09.014

Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman-Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta, CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein American Journal of Human Genetics. ,vol. 96, pp. 162- 169 ,(2015) , 10.1016/J.AJHG.2014.11.013

Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, Amanda Blair, Sherri Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya, Eden Haverfield, Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. Genetics in Medicine. ,vol. 17, pp. 623- 629 ,(2015) , 10.1038/GIM.2014.160

Elizabeth K Ruzzo, Jose-Mario Capo-Chichi, Bruria Ben-Zeev, David Chitayat, Hanqian Mao, Andrea L Pappas, Yuki Hitomi, Yi-Fan Lu, Xiaodi Yao, Fadi F Hamdan, Kimberly Pelak, Haike Reznik-Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Yair Anikster, Edna Ben-Asher, Tsviya Olender, Laurence Colleaux, Jean-Claude Décarie, Susan Blaser, Brenda Banwell, Rasesh B Joshi, Xiao-Ping He, Lysanne Patry, Rachel J Silver, Sylvia Dobrzeniecka, Mohammad S Islam, Abul Hasnat, Mark E Samuels, Dipendra K Aryal, Ramona M Rodriguiz, Yong-hui Jiang, William C Wetsel, James O McNamara, Guy A Rouleau, Debra L Silver, Doron Lancet, Elon Pras, Grant A Mitchell, Jacques L Michaud, David B Goldstein, None, Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Neuron. ,vol. 80, pp. 429- 441 ,(2013) , 10.1016/J.NEURON.2013.08.013