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Author/Creator Gibson, William T.

2. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

Authors:
Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
119
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
View Content:
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4. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Issue 3 (8th January 2016)

Authors:
Brodehl, Andreas; Ferrier, Raechel A.; Hamilton, Sara J.; Greenway, Steven C.; Brundler, Marie‐Anne; Yu, Weiming; Gibson, William T.; McKinnon, Margaret L.; McGillivray, Barbara; Alvarez, Nanette; Giuffre, Michael; Schwartzentruber, Jeremy; Gerull, Brenda
Journal:
Human mutation
Issue:
Volume 37:Issue 3(2016)
Page Start:
269
Record Type:
Journal Article
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9. PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. Issue 4 (14th November 2019)

Authors:
Cyrus, Sharri; Burkardt, Deepika; Weaver, David D.; Gibson, William T.
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
519
Record Type:
Journal Article
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10. Rare SUZ12 variants commonly cause an overgrowth phenotype. Issue 4 (17th November 2019)

Authors:
Cyrus, Sharri S.; Cohen, Ana S. A.; Agbahovbe, Ruky; Avela, Kristiina; Yeung, Kit S.; Chung, Brian H. Y.; Luk, Ho‐Ming; Tkachenko, Nataliya; Choufani, Sanaa; Weksberg, Rosanna; Lopez‐Rangel, Elena; Brown, Kathleen; Saenz, Margarita S.; Svihovec, Shayna; McCandless, Shawn E.; Bird, Lynne M.; Garci...
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
532
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗