Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
Get full text
Journal Article
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
Get full text
Journal Article
Autism spectrum disorder: advances in evidence-based practice
Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Szatmari, Peter, Fombonne, Eric, Fernandez, Bridget A., Woodbury-Smith, Marc, Brian, Jessica, Bryson, Susan, Smith, Isabel M., Drmic, Irene, Buchanan, Janet A., Roberts, Wendy, Scherer, Stephen W.
Published in Canadian Medical Association journal (CMAJ) (15.04.2014)
Published in Canadian Medical Association journal (CMAJ) (15.04.2014)
Get full text
Journal Article
SHANK1 Deletions in Males with Autism Spectrum Disorder
Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
Get full text
Journal Article
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
Get full text
Journal Article
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features
Fernandez, Bridget A, Fox, George, Bhatia, Rick, Sala, Eric, Noble, Barbara, Denic, Nash, Fernandez, Dzintra, Duguid, Nigel, Dohey, Amanda, Kamel, Fady, Edwards, Laura, Mahoney, Krista, Stuckless, Susan, Parfrey, Patrick S, Woods, Michael O
Published in Respiratory research (01.08.2012)
Published in Respiratory research (01.08.2012)
Get full text
Journal Article
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
Get full text
Journal Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorraine, van Bokhoven, Hans, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
Get full text
Journal Article
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
Moore, Susan J., Green, Jane S., Fan, Yanli, Bhogal, Ashvinder K., Dicks, Elizabeth, Fernandez, Bridget A., Stefanelli, Mark, Murphy, Christopher, Cramer, Benvon C., Dean, John C.S., Beales, Philip L., Katsanis, Nicholas, Bassett, Anne S., Davidson, William S., Parfrey, Patrick S.
Published in American journal of medical genetics. Part A (01.02.2005)
Published in American journal of medical genetics. Part A (01.02.2005)
Get full text
Journal Article
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada J.S., Engchuan, Worrawat, Higginbotham, Edward J., Howe, Jennifer L., Loureiro, Livia O., Reuter, Miriam S., Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan V., Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey R., Wei, John, Sung, Wilson W.L., Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin J., Ding, Qiliang, Shum, Carole, D'Abate, Lia, Bradley, Clarrisa A., Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew L.Y., Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio L., Herbrick, Jo-Anne, Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael J., Zawati, Ma'n H., Lang, Michael, Strug, Lisa J., Marshall, Christian R., Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David G., Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel S., Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas W., Vorstman, Jacob A.S., Fakhro, Khalid A., Fernandez, Bridget A., Lewis, M.E. Suzanne, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan K.C., Anagnostou, Evdokia, Sondheimer, Neal, Glazer, David, Hartley, Dean M.
Published in Cell (10.11.2022)
Published in Cell (10.11.2022)
Get full text
Journal Article
Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, Brett, Engchuan, Worrawat, Nguyen, Charlotte M., Thiruvahindrapuram, Bhooma, Dolzhenko, Egor, Backstrom, Ian, Mirceta, Mila, Mojarad, Bahareh A., Yin, Yue, Dov, Alona, Chandrakumar, Induja, Prasolava, Tanya, Shum, Natalie, Hamdan, Omar, Pellecchia, Giovanna, Howe, Jennifer L., Whitney, Joseph, Klee, Eric W., Baheti, Saurabh, Amaral, David G., Anagnostou, Evdokia, Elsabbagh, Mayada, Fernandez, Bridget A., Hoang, Ny, Lewis, M. E. Suzanne, Liu, Xudong, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Glazer, David, Hartley, Dean, Stewart, A. Keith, Eberle, Michael A., Sato, Nozomu, Pearson, Christopher E., Scherer, Stephen W., Yuen, Ryan K. C.
Published in Nature (London) (01.10.2020)
Published in Nature (London) (01.10.2020)
Get full text
Journal Article
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Fernandez, Bridget A, Green, Jane S, Bursey, Ford, Barrett, Brendan, MacMillan, Andrée, McColl, Sarah, Fernandez, Sara, Rahman, Proton, Mahoney, Krista, Pereira, Sergio L, Scherer, Stephen W, Boycott, Kym M, Woods, Michael O
Published in BMC genetics (21.11.2012)
Published in BMC genetics (21.11.2012)
Get full text
Journal Article
Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W
Published in Nature medicine (01.02.2015)
Published in Nature medicine (01.02.2015)
Get full text
Journal Article
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A
Published in JAMA : the journal of the American Medical Association (01.09.2015)
Published in JAMA : the journal of the American Medical Association (01.09.2015)
Get full text
Journal Article
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Eisfeldt, Jesper, Higginbotham, Edward J., Lenner, Felix, Howe, Jennifer, Fernandez, Bridget A., Lindstrand, Anna, Scherer, Stephen W., Feuk, Lars
Published in Genome research (01.11.2024)
Published in Genome research (01.11.2024)
Get full text
Journal Article
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden
Dharmadhikari, Avinash V., Markowitz, Alexander L., Han, Jennifer, Estrine, Dolores B., Xu, Dong, Ma, Katherine, Fong, Cindy, Fernandez, Bridget A., Deardorff, Matthew A., Schmidt, Ryan J., Ji, Jianling, Raca, Gordana
Published in Genetics in medicine (01.08.2025)
Published in Genetics in medicine (01.08.2025)
Get full text
Journal Article
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
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.
Published in Nature communications (29.10.2022)
Published in Nature communications (29.10.2022)
Get full text
Journal Article
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
Vaags, Andrea K., Lionel, Anath C., Sato, Daisuke, Goodenberger, McKinsey, Stein, Quinn P., Curran, Sarah, Ogilvie, Caroline, Ahn, Joo Wook, Drmic, Irene, Senman, Lili, Chrysler, Christina, Thompson, Ann, Russell, Carolyn, Prasad, Aparna, Walker, Susan, Pinto, Dalila, Marshall, Christian R., Stavropoulos, Dimitri J., Zwaigenbaum, Lonnie, Fernandez, Bridget A., Fombonne, Eric, Bolton, Patrick F., Collier, David A., Hodge, Jennelle C., Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
Get full text
Journal Article
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Lionel, Anath C., Vaags, Andrea K., Sato, Daisuke, Gazzellone, Matthew J., Mitchell, Elyse B., Chen, Hong Yang, Costain, Gregory, Walker, Susan, Egger, Gerald, Thiruvahindrapuram, Bhooma, Merico, Daniele, Prasad, Aparna, Anagnostou, Evdokia, Fombonne, Eric, Zwaigenbaum, Lonnie, Roberts, Wendy, Szatmari, Peter, Fernandez, Bridget A., Georgieva, Lyudmila, Brzustowicz, Linda M., Roetzer, Katharina, Kaschnitz, Wolfgang, Vincent, John B., Windpassinger, Christian, Marshall, Christian R., Trifiletti, Rosario R., Kirmani, Salman, Kirov, George, Petek, Erwin, Hodge, Jennelle C., Bassett, Anne S., Scherer, Stephen W.
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
Get full text
Journal Article