Publications:

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Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3.

Cell Reports

Cupo, Ryan R RR; Rizo, Alexandrea N AN; Braun, Gabriel A GA; Tse, Eric E; Chuang, Edward E; Gupta, Kushol K; Southworth, Daniel R DR; Shorter, James J

Publication Date: 2022-09-27

Variant appearance in text: KL: R628C

PubMed Link: 36170828

Variant Present in the following documents:

• nihms-1839193.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: KL: R628C

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: KL: R628C

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KL: 1882C>T; R628C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Phenotypic characteristics of early Wolfram syndrome.

Orphanet Journal Of Rare Diseases

Marshall, Bess A BA; Permutt, M Alan MA; Paciorkowski, Alexander R AR; Hoekel, James J; Karzon, Roanne R; Wasson, Jon J; Viehover, Amy A; White, Neil H NH; Shimony, Joshua S JS; Manwaring, Linda L; Austin, Paul P; Hullar, Timothy E TE; Hershey, Tamara T; ,

Publication Date: 2013-04-27

Variant appearance in text: KL: 1882C>T

PubMed Link: 23981289

Variant Present in the following documents:

• 1750-1172-8-64.pdf

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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics

Need, Anna C AC; McEvoy, Joseph P JP; Gennarelli, Massimo M; Heinzen, Erin L EL; Ge, Dongliang D; Maia, Jessica M JM; Shianna, Kevin V KV; He, Min M; Cirulli, Elizabeth T ET; Gumbs, Curtis E CE; Zhao, Qian Q; Campbell, C Ryan CR; Hong, Linda L; Rosenquist, Peter P; Putkonen, Anu A; Hallikainen, Tero T; Repo-Tiihonen, Eila E; Tiihonen, Jari J; Levy, Deborah L DL; Meltzer, Herbert Y HY; Goldstein, David B DB

Publication Date: 2012-08-10

Variant appearance in text: KL: 1882C>T; Arg628Cys

PubMed Link: 22863191

Variant Present in the following documents:

• Main text

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