Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15
Schlade-Bartusiak, Kamilla, Strong, Emma, Zhu, Olive, Mackie, Jessica, Salema, Diane, Volodarsky, Michael, Roberts, Jeffrey, Steinraths, Michelle
Published in F&S Reports (Online) (01.09.2022)
Published in F&S Reports (Online) (01.09.2022)
Get full text
Journal Article
Delays in diagnosing cystic fibrosis Can we find ways to diagnose it earlier?
Steinraths, Michelle, Vallance, Hilary D, Davidson, A George F
Published in Canadian family physician (01.06.2008)
Get full text
Published in Canadian family physician (01.06.2008)
Journal Article
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism
Udani, Rupa, Schilter, Kala F., Tyler, Rebecca C., Smith, Brandon A., Wendt-Andrae, Jaime L., Kappes, Ulrike P., Scharer, Gunter, Lehman, Anna, Steinraths, Michelle, Reddi, Honey V.
Published in Journal of genetics (09.01.2023)
Published in Journal of genetics (09.01.2023)
Get full text
Journal Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D., Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R., Littlejohn, Rebecca O., Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T., Jenkins, Janda L., Saunders, Carol J., Thiffault, Isabelle, Alaimo, Joseph T., Fleischer, Julie, Groepper, Daniel, Gripp, Karen W., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
Get full text
Journal Article
Recurrent sterile abscesses in a case of X‐linked neutropenia
Biggs, Catherine M., Modi, Bhavi, Steinraths, Michelle, Del Bel, Kate, Pourshahnazari, Persia, Griffiths, Cameron, Forrest, David M., Prendiville, Julie, Dutz, Jan P., Turvey, Stuart E., Cameron, Scott B.
Published in Pediatric dermatology (01.07.2020)
Published in Pediatric dermatology (01.07.2020)
Get full text
Journal Article
Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98
Thibodeau, My Linh, Steinraths, Michelle, Brown, Lindsay, Zong, Zheyuan, Shomer, Naomi, Taubert, Stefan, Mungall, Karen L, Ma, Yussanne P, Mueller, Rosemary, Birol, Inanc, Lehman, Anna
Published in Cytogenetic and genome research (01.10.2017)
Published in Cytogenetic and genome research (01.10.2017)
Get more information
Journal Article
Cover Image, Volume 176A, Number 4, April 2018
Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
Get full text
Journal Article
Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
Langlois, Sylvie, Armstrong, Linlea, Gall, Kim, Hulait, Gurdip, Livingston, Janet, Nelson, Tanya, Power, Patricia, Pugash, Denise, Siciliano, Dawn, Steinraths, Michelle, Mattman, André
Published in Prenatal diagnosis (01.10.2009)
Published in Prenatal diagnosis (01.10.2009)
Get full text
Journal Article
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features
Tucker, Tracy, Steinraths, Michelle, Oh, Tracey, Nelson, Tanya N, Van Allen, Margot I, Brown, Lindsay, Schlade-Bartusiak, Kamilla
Published in Clinical dysmorphology (01.04.2016)
Published in Clinical dysmorphology (01.04.2016)
Get more information
Journal Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
Get full text
Journal Article
Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis
Wang, Jia‐Chi, Steinraths, Michelle, Dang, Linda, Lomax, Brenda, Eydoux, Patrice, Stockley, Tracy, Yong, Siu‐Li, Van Allen, Margot I.
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
Get full text
Journal Article
Research of the holiday kind. Audiovisual hyperactivity disorder (AVHD): a peril of the desire to excel
Macnab, Andrew J, Duffy, Damian, Milligan, Julie, Miller, Kirsten, George, Shawn, Grant, Elizabeth, Steinraths, Michelle
Published in Canadian Medical Association journal (CMAJ) (10.12.2002)
Get full text
Published in Canadian Medical Association journal (CMAJ) (10.12.2002)
Journal Article
Audiovisual hyperactivity disorder (AVHD): A peril of the desire to excel
Macnab, Andrew J, Duffy, Damian, Milligan, Julie, Miller, Kirsten
Published in Canadian Medical Association journal (CMAJ) (10.12.2002)
Get full text
Published in Canadian Medical Association journal (CMAJ) (10.12.2002)
Journal Article
Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis
Wang, Jia-Chi, Steinraths, Michelle, Dang, Linda, Lomax, Brenda, Eydoux, Patrice, Stockley, Tracy, Yong, Siu-Li, Van Allen, Margot I.
Published in American Journal of Medical Genetics Part A (15.12.2007)
Published in American Journal of Medical Genetics Part A (15.12.2007)
Get full text
Report