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Morrow, Eric M, Yoo, Seung-Yun, Flavell, Steven W, Kim, Tae-Kyung, Lin, Yingxi, Hill, Robert Sean, Mukaddes, Nahit M, Balkhy, Soher, Gascon, Generoso, Hashmi, Asif, Al-Saad, Samira, Ware, Janice, Joseph, Robert M, Greenblatt, Rachel, Gleason, Danielle, Ertelt, Julia A, Apse, Kira A, Bodell, Adria, Partlow, Jennifer N, Barry, Brenda, Yao, Hui, Markianos, Kyriacos, Ferland, Russell J, Greenberg, Michael E, Walsh, Christopher A
Published in Science (American Association for the Advancement of Science) (11.07.2008)
Published in Science (American Association for the Advancement of Science) (11.07.2008)
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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Walsh, Christopher A, Shen, Jun, Gilmore, Edward C, Marshall, Christine A, Haddadin, Mary, Reynolds, John J, Eyaid, Wafaa, Bodell, Adria, Barry, Brenda, Gleason, Danielle, Allen, Kathryn, Ganesh, Vijay S, Chang, Bernard S, Grix, Arthur, Hill, R Sean, Topcu, Meral, Caldecott, Keith W, Barkovich, A James
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts
Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
Manzini, M. Chiara, Xiong, Lan, Shaheen, Ranad, Tambunan, Dimira E., Di Costanzo, Stefania, Mitisalis, Vanessa, Tischfield, David J., Cinquino, Antonella, Ghaziuddin, Mohammed, Christian, Mehtab, Jiang, Qin, Laurent, Sandra, Nanjiani, Zohair A., Rasheed, Saima, Hill, R. Sean, Lizarraga, Sofia B., Gleason, Danielle, Sabbagh, Diya, Salih, Mustafa A., Alkuraya, Fowzan S., Walsh, Christopher A.
Published in Cell reports (Cambridge) (07.08.2014)
Published in Cell reports (Cambridge) (07.08.2014)
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Developmental and degenerative features in a complicated spastic paraplegia
Manzini, M. Chiara, Rajab, Anna, Maynard, Thomas M., Mochida, Ganeshwaran H., Tan, Wen-Hann, Nasir, Ramzi, Hill, R. Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N., Barry, Brenda J., Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A.
Published in Annals of neurology (01.04.2010)
Published in Annals of neurology (01.04.2010)
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Opioid Avoidance in Liver Transplant Recipients: Reduction in Postoperative Opioid Use Through a Multidisciplinary Multimodal Approach
Kutzler, Heather L., Gannon, Richard, Nolan, William, Meisterling, Leah, Cech, Marbelia, Gleason, Danielle, Uzl, Justin, Rochon, Caroline, Maneckshana, Bejon, Serrano, Oscar K., Riley, Jenifer, O’Sullivan, David, Urtasun Sotil, Eva, Einstein, Michael, Sheiner, Patricia
Published in Liver transplantation (01.10.2020)
Published in Liver transplantation (01.10.2020)
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A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
Mochida, Ganeshwaran H., Mahajnah, Muhammad, Hill, Anthony D., Basel-Vanagaite, Lina, Gleason, Danielle, Hill, R. Sean, Bodell, Adria, Crosier, Moira, Straussberg, Rachel, Walsh, Christopher A.
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
MOCHIDA, Ganeshwaran H, GANESH, Vijay S, GLEASON, Danielle, HILL, Anthony D, MALIK, Athar N, BARRY, Brenda J, PARTLOW, Jennifer N, TAN, Wen-Hann, GLADER, Lauriej, BARKOVICH, Ajames, DOBYNS, William B, ZON, Leonard I, DE MICHELENA, Maria I, WALSH, Christopher A, DIAS, Hugo, ATABAY, Kutay D, KATHREIN, Katie L, HUANG, Hsuan-Ting, SEAN HILL, R, FELIE, Jillian M, RAKIEC, Daniel
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
Chiara Manzini, M, Gleason, Danielle, Chang, Bernard S, Sean Hill, R, Barry, Brenda J, Partlow, Jennifer N, Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R, Schmidt, Karen, Davis, Jessica G, Basel-Vanagaite, Lina, Seidahmed, Mohamed Z, Salih, Mustafa A.M, Dobyns, William B, Walsh, Christopher A
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort
Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C., Barry, Brenda J., Partlow, Jennifer N., Chang, Bernard S., Shaw, Gary M., Barkovich, A. James, Walsh, Christopher A.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Candidate Gene Sequencing of LHX2, HESXI, and SOX2 in a Large Schizencephaly Cohort
MELLADO, Cecilia, PODURI, Annapurna, GLEASON, Danielle, ELHOSARY, Princess C, BARRY, Brenda J, PARTLOW, Jennifer N, CHANG, Bernard S, SHAW, Gary M, BARKOVICH, A. James, WALSH, Christopher A
Published in American journal of medical genetics. Part A (2010)
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Published in American journal of medical genetics. Part A (2010)
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