Shortened consent forms for genome‐wide sequencing: Parent and provider perspectives

by Emma C. Hitchcock, CAUSES Study, Alison M. Elliott
Published 2020-07-01

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

by Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Published 2021-08-01

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

by Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Published 2021-09-01

KDM5A mutations identified in autism spectrum disorder using forward genetics

by Lauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, Jamie Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S Alsaif, Aboulfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R DuPont, Raymond J Louie, CAUSES Study, Madeline Couse, Maha Faden, R Curtis Rogers, Rami Abou Jamra, Ellen R Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H Chahrour
Published 2020-12-01

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

by Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Published 2021-04-01

Poverty in Baltimore and its causes: study of social statistics in the city of Baltimore for the years 1916-1917.

by Alliance of Charitable and Social Agencies (Baltimore, Md.)
Published [191

De novo mutations in EBF3 cause a neurodevelopmental syndrome

by Sleven, H, Welsh, S, Yu, J, Churchill, M, Wright, C, Henderson, A, Horvath, R, Rankin, J, Vogt, J, Magee, A, McConnell, V, Green, A, King, M, Cox, H, Armstrong, L, Lehman, A, Nelson, T, Deciphering Developmental Disorders study, CAUSES study, Williams, J, Clouston, P, Hagman, J, Németh, A
Published 2017

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

by Yan, K.Z., Rousseau, J., Littlejohn, R.O., Kiss, C., Lehman, A., Rosenfeld, J.A., Stumpel, C.T.R., Stegmann, A.P.A., Robak, L., Scaglia, F., Nguyen, T.T.M., Fu, H., Ajeawung, N.F., Camurri, M.V., Li, L., Gardham, A., Panis, B., Almannai, M., Sacoto, M.J.G., Baskin, B., Ruivenkamp, C., Xia, F., Bi, W., Cho, M.T., Potjer, T.P., Santen, G.W.E., Parker, M.J., Canham, N., McKinnon, M., Potocki, L., MacKenzie, J.J., Roeder, E.R., Campeau, P.M., Yang, X.J., DDD Study, CAUSES Study
Published 2017

The Disappearing Seasonality of Autism Conceptions in California

by Mazumdar, Soumya, Liu, Ka-Yuet, Susser, Ezra S., Bearman, Peter Shawn
Published 2012

Does Social Connection Turn Good Deeds into Good Feelings? On the Value of Putting the 'Social' in Prosocial Spending

by Aknin, Lara B., Dunn, Elizabeth, Sandstrom, Gillian, Norton, Michael Irwin
Published 2013

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

by Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E
Published 2021

Death rates for asthma in English populations 1979-2007: comparison of underlying cause and all certified causes.

by Goldacre, M, Duncan, M, Griffith, M
Published 2016

Death rates for asthma in English populations 1979-2007: Comparison of underlying cause and all certified causes

by Goldacre, M, Duncan, M, Griffith, M
Published 2016

PREDICTIVE MODELS OF FUNCTIONAL PERFORMANCE FOLLOWING STROKE

by Jaber, Ala'a Fayez
Published 2018

Development of a semi-industrial multi fruit dryer system using simultaneous intelligent control

by Javanmard, Marjan, Endan, Johari, Abbas, Kassim Ali, Arvin, Farshad
Published 2010

Identifying avian malaria vectors: sampling methods influence outcomes.

by Carlson, Jenny S, Walther, Erika, TroutFryxell, Rebecca, Staley, Sarah, Tell, Lisa A, Sehgal, Ravinder NM, Barker, Christopher M, Cornel, Anthony J
Published 2015

The discursive construction of modern masculine identities in contemporary Malaysia

by Nur Syuhada Mohd Radzi, Bahiyah Dato’ Hj. Abdul Hamid, Kesumawati Abu Bakar
Published 2018

Low dose, add-on prednisolone in patients with rheumatoid arthritis aged 65+: the pragmatic randomised, double-blind placebo-controlled GLORIA trial

by Boers, M., Hartman, L., Opris-Belinski, D., Bos, R., Kok, M.R., Silva, J.A.P. da, Griep, E.N., Klaasen, R., Allaart, C.F., Baudoin, P., Raterman, H.G., Szekanecz, Z., Buttgereit, F., Masaryk, P., Klausch, L.T., Paolino, S., Schilder, A.M., Lems, W.F., Cutolo, M., GLORIA Trial Consortium
Published 2022

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

by Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium
Published 2021