A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome
Armstrong, Linlea, Tarailo‐Graovac, Maja, Sinclair, Graham, Seath, Kimberly I., Wasserman, Wyeth W., Ross, Colin J., van Karnebeek, Clara D. M.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
Get full text
Journal Article
The practice of genomic medicine: A delineation of the process and its governing principles
Handra, Julia, Elbert, Adrienne, Gazzaz, Nour, Moller-Hansen, Ashley, Hyunh, Stephanie, Lee, Hyun Kyung, Boerkoel, Pierre, Alderman, Emily, Anderson, Erin, Clarke, Lorne, Hamilton, Sara, Hamman, Ronnalea, Hughes, Shevaun, Ip, Simon, Langlois, Sylvie, Lee, Mary, Li, Laura, Mackenzie, Frannie, Patel, Millan S, Prentice, Leah M, Sangha, Karan, Sato, Laura, Seath, Kimberly, Seppelt, Margaret, Swenerton, Anne, Warnock, Lynn, Zambonin, Jessica L, Boerkoel, Cornelius F, Chin, Hui-Lin, Armstrong, Linlea
Published in Frontiers in medicine (12.01.2023)
Published in Frontiers in medicine (12.01.2023)
Get full text
Journal Article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
Get full text
Journal Article
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
Get full text
Journal Article