Evaluating the prevalence of lipid assessments in children in Alberta, Canada

por Christian, Susan, Ridsdale, Ross, Lin, Mu, Khoury, Michael
Publicado 2023

IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars—the Alberta experience with hypertrophic cardiomyopathy

por Christian, Susan, Tagoe, Julia, Delday, Lenore, Bernier, Francois P., Kohut, Ruth, Ferrier, Raechel
Publicado 2021

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

por Upton, Paul, Richards, Susan, Bates, Angela, Niederhoffer, Karen Y., Morrell, Nicholas W., Christian, Susan
Publicado 2022

Secondary Reporting of G6PD Deficiency on Newborn Screening

por Hoang, Stephanie C., Blumenschein, Pamela, Lilley, Margaret, Olshaski, Larissa, Bruce, Aisha, Wright, Nicola A. M., Ridsdale, Ross, Christian, Susan
Publicado 2023

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis

por Christian, Susan, Cirino, Allison, Hansen, Brittany, Harris, Stephanie, Murad, Andrea M, Natoli, Jaime L, Malinowski, Jennifer, Kelly, Melissa A
Publicado 2022

Newborn Screening: Current Status in Alberta, Canada

por De Souza, Andy, Wolan, Vanessa, Battochio, Angie, Christian, Susan, Hume, Stacey, Johner, Grace, Lilley, Margaret, Ridsdale, Ross, Schnabl, Kareena, Tran, Chi, Yuen-Jung, Jolene, Sosova, Iveta
Publicado 2019

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

por Kumar, Ravinesh A, Sudi, Jyotsna, Babatz, Timothy D, Brune, Camille W, Oswald, Donald, Yen, Mayon, Nowak, Norma J, Cook, Edwin H, Christian, Susan L, Dobyns, William B
Publicado 2009

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

por Pavone, Piero, Ruggieri, Martino, Lombardo, Ilaria, Sudi, Jyotsna, Biancheri, Roberta, Castellano-Chiodo, Danilo, Rossi, Andrea, Incorpora, Gemma, Nowak, Norma J., Christian, Susan L., Pavone, Lorenzo, Dobyns, William B.
Publicado 2009

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado 2013

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

por Zhou, Janet R., Ridsdale, Ross, MacNeil, Lauren, Lilley, Margaret, Hoang, Stephanie, Christian, Susan, Blumenschein, Pamela, Wolan, Vanessa, Bruce, Aisha, Singh, Gurpreet, Wright, Nicola, Parboosingh, Jillian S., Lamont, Ryan E., Sosova, Iveta
Publicado 2021

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

por Kumar, Ravinesh A., Marshall, Christian R., Badner, Judith A., Babatz, Timothy D., Mukamel, Zohar, Aldinger, Kimberly A., Sudi, Jyotsna, Brune, Camille W., Goh, Gerald, KaraMohamed, Samer, Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel H., Dobyns, William B., Scherer, Stephen W., Christian, Susan L.
Publicado 2009

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

por Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., Sherr, Elliott H.
Publicado 2013

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

por Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Publicado 2012

Microduplications of 16p11.2 are Associated with Schizophrenia

por McCarthy, Shane, Makarov, Vladimir, Kirov, George, Addington, Anjene, McClellan, Jon, Yoon, Seungtai, Perkins, Dianna, Dickel, Diane E., Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A., Grozeva, Detelina, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H., Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D., Spinner, Nancy B., Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B., Leotta, Anthony, Kendall, Jude, Lee, Yoon-ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia, Crow, Timothy J., Christian, Susan L., Lieberman, Jeffrey, Stroup, Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L., DeRosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J., Malhotra, Anil K., Potash, James B., Schulze, Thomas G., Nöthen, Markus M., Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M., Sutcliffe, James S., Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R., Craddock, Nick, Owen, Michael J., O’Donovan, Michael C., Shaikh, Tamim H., Susser, Ezra, DeLisi, Lynn E., Sullivan, Patrick F., Deutsch, Curtis K., Rapoport, Judith, Levy, Deborah L., King, Mary-Claire, Sebat, Jonathan
Publicado 2009