Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter
Published in Nature genetics (01.11.2009)
Published in Nature genetics (01.11.2009)
Get full text
Journal Article
Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population
Ray, Joel G, Wyatt, Philip R, Thompson, Miles D, Vermeulen, Marian J, Meier, Chris, Wong, Pui-Yuen, Farrell, Sandra A, Cole, David E C
Published in Epidemiology (Cambridge, Mass.) (01.05.2007)
Published in Epidemiology (Cambridge, Mass.) (01.05.2007)
Get more information
Journal Article
Genetic education for primary care providers Improving attitudes, knowledge, and confidence
Carroll, June C, Rideout, Andrea L, Wilson, Brenda J, Allanson, Judith Md, Blaine, Sean M, Esplen, Mary Jane, Farrell, Sandra A, Graham, Gail E, MacKenzie, Jennifer, Meschino, Wendy, Miller, Fiona, Prakash, Preeti, Shuman, Cheryl, Summers, Anne, Taylor, Sherry
Published in Canadian family physician (01.12.2009)
Get full text
Published in Canadian family physician (01.12.2009)
Journal Article
The impact of maternal weight discrepancies on prenatal screening results for Down syndrome
Huang, Tianhua, Meschino, Wendy S., Okun, Nan, Dennis, Alan, Hoffman, Barry, Lepage, Nathalie, Rashid, Shamim, Aul, Ritu, Farrell, Sandra A.
Published in Prenatal diagnosis (01.05.2013)
Published in Prenatal diagnosis (01.05.2013)
Get full text
Journal Article
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Ballif, Blake C., Rosenfeld, Jill A., Traylor, Ryan, Theisen, Aaron, Bader, Patricia I., Ladda, Roger L., Sell, Susan L., Steinraths, Michelle, Surti, Urvashi, McGuire, Marianne, Williams, Shelley, Farrell, Sandra A., Filiano, James, Schnur, Rhonda E., Coffey, Lauren B., Tervo, Raymond C., Stroud, Tracy, Marble, Michael, Netzloff, Michael, Hanson, Kristen, Aylsworth, Arthur S., Bamforth, J. S., Babu, Deepti, Niyazov, Dmitriy M., Ravnan, J. Britt, Schultz, Roger A., Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., Shaffer, Lisa G.
Published in Human genetics (2012)
Published in Human genetics (2012)
Get full text
Journal Article
Metabolic syndrome features and risk of neural tube defects
Ray, Joel G, Thompson, Miles D, Vermeulen, Marian J, Meier, Chris, Wyatt, Philip R, Wong, Pui-Yuen, Summers, Anne M, Farrell, Sandra A, Cole, David E C
Published in BMC pregnancy and childbirth (19.09.2007)
Published in BMC pregnancy and childbirth (19.09.2007)
Get full text
Journal Article
Investigation of NRXN1 deletions: Clinical and molecular characterization
Dabell, Mindy Preston, Rosenfeld, Jill A., Bader, Patricia, Escobar, Luis F., El-Khechen, Dima, Vallee, Stephanie E., Dinulos, Mary Beth Palko, Curry, Cynthia, Fisher, Jamie, Tervo, Raymond, Hannibal, Mark C., Siefkas, Kiana, Wyatt, Philip R., Hughes, Lauren, Smith, Rosemarie, Ellingwood, Sara, Lacassie, Yves, Stroud, Tracy, Farrell, Sandra A., Sanchez-Lara, Pedro A., Randolph, Linda M., Niyazov, Dmitriy, Stevens, Cathy A., Schoonveld, Cheri, Skidmore, David, MacKay, Sara, Miles, Judith H., Moodley, Manikum, Huillet, Adam, Neill, Nicholas J., Ellison, Jay W., Ballif, Blake C., Shaffer, Lisa G.
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
Get full text
Journal Article
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia
Farrell, Sandra A., Sodhi, Sandi, Marshall, Christian R., Guerin, Andrea, Slavotinek, Anne, Paton, Tara, Chong, Karen, Sirkin, Wilma L., Scherer, Stephen W., Bérubé‐Simard, Félix‐Antoine, Pilon, Nicolas
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
Get full text
Journal Article
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Tyson, Christine, Qiao, Ying, Harvard, Chansonette, Liu, Xudong, Bernier, Francois P, McGillivray, Barbara, Farrell, Sandra A, Arbour, Laura, Chudley, Albert E, Clarke, Lorne, Gibson, William, Dyack, Sarah, McLeod, Ross, Costa, Teresa, Vanallen, Margot I, Yong, Siu-Li, Graham, Gail E, Macleod, Patrick, Patel, Millan S, Hurlburt, Jane, Holden, Jeanette Ja, Lewis, Suzanne Me, Rajcan-Separovic, Evica
Published in Molecular cytogenetics (11.11.2008)
Published in Molecular cytogenetics (11.11.2008)
Get full text
Journal Article
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Wen, Jiadi, Lopes, Fátima, Soares, Gabriela, Farrell, Sandra A, Nelson, Cara, Qiao, Ying, Martell, Sally, Badukke, Chansonette, Bessa, Carlos, Ylstra, Bauke, Lewis, Suzanne, Isoherranen, Nina, Maciel, Patricia, Rajcan-Separovic, Evica
Published in Orphanet journal of rare diseases (10.07.2013)
Published in Orphanet journal of rare diseases (10.07.2013)
Get full text
Journal Article
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis
Yazaki, Masahide, Farrell, Sandra A., Benson, Merrill D.
Published in Kidney international (01.05.2003)
Published in Kidney international (01.05.2003)
Get full text
Journal Article
Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects
Lepage, Nathalie, Chaudhry, Ayeshah, Konforte, Danijela, Shaw, Julie, Veljkovic, Kika, Dennis, Alan, Rashid, Shamim, Farrell, Sandra A.
Published in Clinical biochemistry (01.10.2012)
Published in Clinical biochemistry (01.10.2012)
Get full text
Journal Article
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
Marshall, Christian R, Farrell, Sandra A, Cushing, Donna, Paton, Tara, Stockley, Tracy L, Stavropoulos, Dimitri J, Ray, Peter N, Szego, Michael, Lau, Lynette, Pereira, Sergio L, Cohn, Ronald D, Wintle, Richard F, Abuzenadah, Adel M, Abu-Elmagd, Muhammad, Scherer, Stephen W
Published in BMC genomics (15.01.2015)
Published in BMC genomics (15.01.2015)
Get full text
Journal Article
Carrier Screening for Thalassemia and Hemoglobinopathies in Canada
Langlois, Sylvie, MD, Ford, Jason C., MD, Chitayat, David, MD, Désilets, Valerie A., MD, Farrell, Sandra A., MD, Geraghty, Michael, MD, Nelson, Tanya, PhD, Nikkel, Sarah M., MD, Shugar, Andrea, MSc, Skidmore, David, MD, Allen, Victoria M., MD, Audibert, François, MD, Blight, Claire, RN, Désilets, Valérie A., MD, Gagnon, Alain, MD, Johnson, Jo-Ann, MD, Douglas Wilson, R., MD, Wyatt, Philip, MD
Published in Journal of obstetrics and gynaecology Canada (01.10.2008)
Published in Journal of obstetrics and gynaecology Canada (01.10.2008)
Get full text
Journal Article
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy
Theisen, Aaron, Rosenfeld, Jill A., Farrell, Sandra A., Harris, Catharine J., Wetzel, Heather H., Torchia, Beth A., Bejjani, Bassem A., Ballif, Blake C., Shaffer, Lisa G.
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
Get full text
Journal Article
Prenatal screening for fetal aneuploidy
Summers, Anne M, Langlois, Sylvie, Wyatt, Phil, Douglas Wilson, R
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
Published in Journal of obstetrics and gynaecology Canada (01.02.2007)
Get more information
Journal Article
Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954-March 14, 2009
Meschino, Wendy S., Farrell, Sandra A., Allanson, Judith
Published in Clinical genetics (01.08.2009)
Published in Clinical genetics (01.08.2009)
Get full text
Journal Article