The mitochondrial genome of Cavia aperea

por Wahedi, Azizia, Günther, Anja, Weyrich, Alexandra, Sondheimer, Neal
Publicado 2020

Higher Order Organization of the mtDNA: Beyond Mitochondrial Transcription Factor A

por Mishmar, Dan, Levin, Rotem, Naeem, Mansur M., Sondheimer, Neal
Publicado 2019

Utility of metabolic screening in neurological presentations of infancy

por Djordjevic, Djurdja, Tsuchiya, Etsuko, Fitzpatrick, Megan, Sondheimer, Neal, Dowling, James J.
Publicado 2020

Nuclear genome-wide associations with mitochondrial heteroplasmy

por Nandakumar, Priyanka, Tian, Chao, O’Connell, Jared, Hinds, David, Paterson, Andrew D., Sondheimer, Neal
Publicado 2021

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

por Sonney, Sanjay, Leipzig, Jeremy, Lott, Marie T., Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Sondheimer, Neal
Publicado 2017

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

por Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal
Publicado 2019

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

por Mahjoub, Areej, Cihlarova, Zuzana, Tétreault, Martine, MacNeil, Lauren, Sondheimer, Neal, Caldecott, Keith W., Hanzlikova, Hana, Yoon, Grace
Publicado 2019

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ(10) deficiency

por Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.
Publicado 2017

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

por Sondheimer, Neal, Aleman, Alberto, Cameron, Jessie, Gonorazky, Hernan, Sabha, Nesrin, Oliveira, Paula, Amburgey, Kimberly, Wahedi, Azizia, Wang, Dahai, Shy, Michael, Dowling., James J.
Publicado 2023

Characterization of mitochondrial health from human peripheral blood mononuclear cells to cerebral organoids derived from induced pluripotent stem cells

por Duong, Angela, Evstratova, Alesya, Sivitilli, Adam, Hernandez, J. Javier, Gosio, Jessica, Wahedi, Azizia, Sondheimer, Neal, Wrana, Jeff L., Beaulieu, Jean-Martin, Attisano, Liliana, Andreazza, Ana C.
Publicado 2021

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

por Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal
Publicado 2015

Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases

por Schadt, Eric E., Banerjee, Onureena, Fang, Gang, Feng, Zhixing, Wong, Wing H., Zhang, Xuegong, Kislyuk, Andrey, Clark, Tyson A., Luong, Khai, Keren-Paz, Alona, Chess, Andrew, Kumar, Vipin, Chen-Plotkin, Alice, Sondheimer, Neal, Korlach, Jonas, Kasarskis, Andrew
Publicado 2013

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

por Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.
Publicado 2017

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

por Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J.
Publicado 2021

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

por Chan, Ada J. S., Engchuan, Worrawat, Reuter, Miriam S., Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V., Sung, Wilson W. L., MacDonald, Jeffrey R., Howe, Jennifer L., Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H., Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J., Yuen, Ryan K. C., Fernandez, Bridget A., Scherer, Stephen W.
Publicado 2022

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me...

por Tingley, Kylie, Lamoureux, Monica, Pugliese, Michael, Geraghty, Michael T., Kronick, Jonathan B., Potter, Beth K., Coyle, Doug, Wilson, Kumanan, Kowalski, Michael, Austin, Valerie, Brunel-Guitton, Catherine, Buhas, Daniela, Chan, Alicia K. J., Dyack, Sarah, Feigenbaum, Annette, Giezen, Alette, Goobie, Sharan, Greenberg, Cheryl R., Ghai, Shailly Jain, Inbar-Feigenberg, Michal, Karp, Natalya, Kozenko, Mariya, Langley, Erica, Lines, Matthew, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mercimek-Andrews, Saadet, Mohan, Connie, Mhanni, Aizeddin, Mitchell, Grant, Mitchell, John J., Nagy, Laura, Napier, Melanie, Pender, Amy, Potter, Murray, Prasad, Chitra, Ratko, Suzanne, Salvarinova, Ramona, Schulze, Andreas, Siriwardena, Komudi, Sondheimer, Neal, Sparkes, Rebecca, Stockler-Ipsiroglu, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Vallance, Hilary, Vandersteen, Anthony, Walia, Jagdeep, Wilson, Ashley, Wilson, Brenda J., Yu, Andrea C., Yuskiv, Nataliya, Chakraborty, Pranesh
Publicado 2020

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado 2018