Search

Author/Creator Yousef Muhammad investigator.

1. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Issue 7 (6th May 2021)

Authors:
Cope, Heidi; Barseghyan, Hayk; Bhattacharya, Surajit; Fu, Yulong; Hoppman, Nicole; Marcou, Cherisse; Walley, Nicole; Rehder, Catherine; Deak, Kristen; Alkelai, Anna; Vilain, Eric; Shashi, Vandana
Other Names:
Acosta Maria T investigator.; Adam Margaret investigator.; Adams David R investigator.; Agrawal Pankaj B investigator.; Alejandro Mercedes E investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A investigator.; Azamian Mahshid S. inves...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 7(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. Issue 2 (10th August 2021)

Authors:
Kohler, Jennefer N.; Kelley, Emily G.; Boyd, Brenna M.; Sillari, Catherine H.; Marwaha, Shruti; Wheeler, Matthew T.
Other Names:
Acosta Maria T investigator.; Adam Margaret investigator.; Adams David R investigator.; Agrawal Pankaj B investigator.; Alejandro Mercedes E investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A investigator.; Azamian Mahshid S invest...
Journal:
Journal of genetic counseling
Issue:
Volume 31:Issue 2(2022)
Page Start:
326
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Issue 4 (5th March 2022)

Authors:
Borja, Nicholas; Bivona, Stephanie; Peart, Lé Shon; Johnson, Brittany; Gonzalez, Joanna; Barbouth, Deborah; Moore, Henry; Guo, Shengru; Bademci, Guney; Tekin, Mustafa
Other Names:
Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗