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Author/Creator Bellen, Hugo J

1. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. (30th April 2020)

Authors:
Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser,...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 9(2020)
Page Start:
1568
Record Type:
Journal Article
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3. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. (2nd May 2018)

Authors:
Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David;...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 14(2018:Jul. 15)
Page Start:
2454
Record Type:
Journal Article
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7. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Issue 16 (26th March 2022)

Authors:
Huang, Yan; Ma, Mengqi; Mao, Xiao; Pehlivan, Davut; Kanca, Oguz; Un-Candan, Feride; Shu, Li; Akay, Gulsen; Mitani, Tadahiro; Lu, Shenzhao; Candan, Sukru; Wang, Hua; Xiao, Bo; Lupski, James R; Bellen, Hugo J
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 16(2022)
Page Start:
2751
Record Type:
Journal Article
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8. Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Issue 14 (16th April 2021)

Authors:
Luo, Xi; Schoch, Kelly; Jangam, Sharayu V; Bhavana, Venkata Hemanjani; Graves, Hillary K; Kansagra, Sujay; Jasien, Joan M; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 14(2021)
Page Start:
1283
Record Type:
Journal Article
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10. The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Issue 6 (18th October 2022)

Authors:
Ma, Mengqi; Zhang, Xi; Zheng, Yiming; Lu, Shenzhao; Pan, Xueyang; Mao, Xiao; Pan, Hongling; Chung, Hyung-lok; Wang, Hua; Guo, Hong; Bellen, Hugo J
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 6(2023)
Page Start:
984
Record Type:
Journal Article
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