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Author/Creator Gahl, William A

1. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (13th February 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1310
Record Type:
Journal Article
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2. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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3. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chri...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021)

Authors:
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
865
Record Type:
Journal Article
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5. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021)

Authors:
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
865
Record Type:
Journal Article
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6. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Issue 11 (5th July 2022)

Authors:
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Debor...
Other Names:
author non-byline.; Bamshad Michael J author non-byline.; Nickerson Deborah A author non-byline.; Anderson Peter author non-byline.; Bacus Tamara J author non-byline.; Blue Elizabeth E author non-byline.; Brower Katherine author non-byline.; Buckingham Kati J author non-byline.; Chong Jessica X ...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1104
Record Type:
Journal Article
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8. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. Issue 5 (13th January 2016)

Authors:
Vilboux, Thierry; Malicdan, May Christine V; Chang, Yun Min; Guo, Jennifer; Zerfas, Patricia M; Stephen, Joshi; Cullinane, Andrew R; Bryant, Joy; Fischer, Roxanne; Brooks, Brian P; Zein, Wadih M; Wiggs, Edythe A; Zalewski, Christopher K; Poretti, Andrea; Bryan, Melanie M; Vemulapalli, Meghana; Mu...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 5(2016)
Page Start:
318
Record Type:
Journal Article
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9. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Issue 3 (14th December 2015)

Authors:
Davids, Mariska; Kane, Megan S; He, Miao; Wolfe, Lynne A; Li, Xueli; Raihan, Mohd A; Chao, Katherine R; Bone, William P; Boerkoel, Cornelius F; Gahl, William A; Toro, Camilo
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
180
Record Type:
Journal Article
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10. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. (16th August 2021)

Authors:
Ferreira, Carlos R; Kintzinger, Kristina; Hackbarth, Mary E; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A; Gafni, Rachel I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank
Journal:
Journal of bone and mineral research
Issue:
Volume 36:Number 11(2021)
Page Start:
2193
Record Type:
Journal Article
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