Barriers in applying to genetic counseling Master's degree programs: Perceptions of prospective applicants when compared with Canadian admissions committee members von Zahavich, Laura, Babul‐Hirji, Riyana

Volltext

45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up von Alkhunaizi, Ebba, Albrecht, Jenna Plamondon, Aarabi, Mahmoud, Witchel, Selma F., Wherrett, Diane, Babul‐Hirji, Riyana, Dupuis, Annie, Chiniara, Lyne, Chater‐Diehl, Eric, Shago, Mary, Shuman, Cheryl, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Chitayat, David

Volltext

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome von Gillis, Jane, Burashnikov, Elena, Antzelevitch, Charles, Blaser, Susan, Gross, Gil, Turner, Lesley, Babul‐Hirji, Riyana, Chitayat, David

Volltext

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay von Ejaz, Resham, Lionel, Anath C., Blaser, Susan, Walker, Susan, Scherer, Stephen W., Babul‐Hirji, Riyana, Marshall, Christian R., Stavropoulos, Dimitri J., Chitayat, David

Volltext

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up von Ejaz, Resham, Babul‐Hirji, Riyana, Chitayat, David

Volltext

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus von Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A, Crow, Yanick J, de Lange, Titia

Volltext

P492: Optimizing access to genetics services for individuals with autism spectrum disorder through a “genetic-counselor-first” assessment model von Babul-Hirji, Riyana, Sondhi, Raman, Mendoza-Londono, Roberto

Volltext

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection von Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E

Volltext

Experience with genetic counseling: the adolescent perspective von Pichini, Amanda, Shuman, Cheryl, Sappleton, Karen, Kaufman, Miriam, Chitayat, David, Babul-Hirji, Riyana

Volltext

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication von Moalem, Sharon, Babul‐Hirji, Riyana, Stavropolous, Dmitri J., Wherrett, Diane, Bägli, Darius J., Thomas, Paul, Chitayat, David

Volltext

Parental Preferences for Expanded Newborn Screening: What Are the Limits? von Liang, Nicole S. Y, Watts-Dickens, Abby, Chitayat, David, Babul-Hirji, Riyana, Chakraborty, Pranesh, Hayeems, Robin Z

Volltext

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos von Moran, Olivia M, Flamenbaum, Kayla, Myles Reid, Diane, McCuaig, Jeanna M, Babul-Hirji, Riyana, Chitayat, David, Roifman, Maian

Volltext

Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome von Guerin, Andrea, Stavropoulos, Dimitri J, Diab, Yaser, Chénier, Sébastien, Christensen, Hilary, Kahr, Walter HA, Babul‐Hirji, Riyana, Chitayat, David

Volltext

P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings von Hansen, Abigail, Luca, Stephanie, Moran, Olivia, Babul-Hirji, Riyana, Yan, Joyce, Fooks, Katharine, Venkataramanan, Viji, Ungar, Wendy, Hayeems, Robin, Study Team, Secondary Findings, Poole, Elise, Assamad, Daniel, Banglorewala, Pooja, Vermeer, Lydia, Marshall, Christian, Gillespie, Meredith, Szuto, Anna, Chisholm, Caitlin, Stavropoulos, James, Huang, Lijia, Jarinova, Olga, Lau, Lynette, Lee, Whiwon, Badalato, Lauren, Balci, Tugce, Chad, Lauren, Inglese, Cara, Ladouceur, Virginie, Mackley, Michael, Morel, Chantal, Richer, Julie, Tarnopolsky, Mark, Villani, Anita, Zahavich, Laura, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin, Boycott, Kym, Ungar, Wendy, Hayeems, Robin

Volltext

P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing von Fooks, Katharine, Vermeer, Lydia, Poole, Elise, Luca, Stephanie, Babul-Hirji, Riyana, Chad, Lauren, Chitayat, David, Mackley, Michael, Schwartz, Marci, Ungar, Wendy, Hayeems, Robin, Study Team, Secondary Findings, Yan, Joyce, Hansen, Abigail, Venkataramanan, Viji, Assamad, Daniel, Marshall, Christian, Gillespie, Meredith, Szuto, Anna, Chisholm, Caitlin, Stavropoulos, James, Huang, Lijia, Jarinova, Olga, Lau, Lynette, Lee, Whiwon, Badalato, Lauren, Balci, Tugce, Inglese, Cara, Ladouceur, Virginie Beausejour, Morel, Chantal, Richer, Julie, Tarnopolsky, Mark, Villani, Anita, Zahavich, Laura, Moran, Olivia, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin, Boycott, Kym

Volltext

Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature von Carter, Melissa T., Blaser, Susan, Papsin, Blake, Meschino, Wendy, Reardon, Willie, Klatt, Regan, Babul‐Hirji, Riyana, Milunsky, Jeff, Chitayat, David

Volltext

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis von Warman, Matthew L, Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W, Cremers, Frans P.M, Brunner, Han G, Reinker, Kent, Rimoin, David L, Cohn, Daniel H, Goodman, Frances R, Reardon, William, Patton, Michael, Francomano, Clair A

Volltext

Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know? von Szybowska, Marta, Hewson, Stacy, Antle, Beverley J., Babul‐Hirji, Riyana

Volltext

Genetic counselling for infertile men of known and unknown etiology von Babul-Hirji, Riyana, Hirji, Ruqayya, Chitayat, David

Volltext

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix von WINTER, H, ROGERS, M. A, GEBHARDT, M, WOLLINA, U, BOXALL, L, CHITAYAT, D, BABUL-HIRJI, R, STEVENS, H. P, ZLOTOGORSKI, A, SCHWEIZER, J

Volltext