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Author/Creator Adam, Shelin

2. Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions. Issue 1 (14th December 2018)

Authors:
Adam, Shelin; Birch, Patricia H.; Coe, Rachel R.; Bansback, Nick; Jones, Adrian L.; Connolly, Mary B.; Demos, Michelle K.; Toyota, Eric B.; Farrer, Matthew J.; Friedman, Jan M.
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 1(2019)
Page Start:
10
Record Type:
Journal Article
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3. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. Issue 5 (29th March 2018)

Authors:
Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, ...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 5(2018)
Page Start:
316
Record Type:
Journal Article
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5. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Issue 11 (12th September 2017)

Authors:
Thibodeau, My Linh; Peters, Colin H.; Townsend, Katelin N.; Shen, Yaoqing; Hendson, Glenda; Adam, Shelin; Selby, Kathryn; Macleod, Patrick M.; Gershome, Cynthia; Ruben, Peter; Jones, Steven J. M.; Friedman, Jan M.; Gibson, William T.; Horvath, Gabriella A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3087
Record Type:
Journal Article
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6. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Issue 11 (12th September 2017)

Authors:
Thibodeau, My Linh; Peters, Colin H.; Townsend, Katelin N.; Shen, Yaoqing; Hendson, Glenda; Adam, Shelin; Selby, Kathryn; Macleod, Patrick M.; Gershome, Cynthia; Ruben, Peter; Jones, Steven J. M.; Friedman, Jan M.; Gibson, William T.; Horvath, Gabriella A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3087
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. (December 2016)

Authors:
Guella, Ilaria; Huh, Linda; McKenzie, Marna B.; Toyota, Eric B.; Bebin, E. Martina; Thompson, Michelle L.; Cooper, Gregory M.; Evans, Daniel M.; Buerki, Sarah E.; Adam, Shelin; Van Allen, Margot I.; Nelson, Tanya N.; Connolly, Mary B.; Farrer, Matthew J.; Demos, Michelle
Journal:
Neurology
Issue:
Volume 2:Number 6(2016)
Page Start:
Record Type:
Journal Article
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10. Renpenning syndrome in a female. Issue 3 (16th December 2019)

Authors:
Cho, Raymond Y.; Peñaherrera, Maria S.; Du Souich, Christele; Huang, Lijia; Mwenifumbo, Jill; Nelson, Tanya N.; Elliott, Alison M.; Adam, Shelin; Eydoux, Patrice; Yang, Gui X.; Chijiwa, Chieko; Van Allen, Margot I.; Friedman, Jan M.; Robinson, Wendy P.; Lehman, Anna
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
498
Record Type:
Journal Article
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