Search

Author/Creator Cohn, Ronald

1. RNAseq analysis for the diagnosis of muscular dystrophy. Issue 1 (8th December 2015)

Authors:
Gonorazky, Hernan; Liang, Minggao; Cummings, Beryl; Lek, Monkol; Micallef, Johann; Hawkins, Cynthia; Basran, Raveen; Cohn, Ronald; Wilson, Michael D.; MacArthur, Daniel; Marshall, Christian R.; Ray, Peter N.; Dowling, James J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 3:Issue 1(2016)
Page Start:
55
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. (December 2017)

Authors:
Hayeems, Robin; Bhawra, Jasmin; Tsiplova, Kate; Meyn, M.; Monfared, Nasim; Bowdin, Sarah; Stavropoulos, D.; Marshall, Christian; Basran, Raveen; Shuman, Cheryl; Ito, Shinya; Cohn, Iris; Hum, Courtney; Girdea, Marta; Brudno, Michael; Cohn, Ronald; Scherer, Stephen; Ungar, Wendy
Journal:
European journal of human genetics
Issue:
Volume 25:Number 12(2017)
Page Start:
1303
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy. Issue 1 (23rd September 2015)

Authors:
Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover‐Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 1(2016)
Page Start:
77
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022)

Authors:
Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
288
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. (December 2015)

Authors:
Marshall, Christian; Farrell, Sandra; Cushing, Donna; Paton, Tara; Stockley, Tracy; Stavropoulos, Dimitri; Ray, Peter; Szego, Michael; Lau, Lynette; Pereira, Sergio; Cohn, Ronald; Wintle, Richard; Abuzenadah, Adel; Abu-Elmagd, Muhammad; Scherer, Stephen
Journal:
BMC genomics
Issue:
Volume 16:Number 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗