Publications:

SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: NEFH: N390T

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Neurology. Genetics

Nel, Melissa M; Mahungu, Amokelani C AC; Monnakgotla, Nomakhosazana N; Botha, Gerrit R GR; Mulder, Nicola J NJ; Wu, Gang G; Rampersaud, Evadnie E; van Blitterswijk, Marka M; Wuu, Joanne J; Cooley, Anne A; Myers, Jason J; Rademakers, Rosa R; Taylor, J Paul JP; Benatar, Michael M; Heckmann, Jeannine M JM

Publication Date: 2022-02

Variant appearance in text: NEFH: N390T

PubMed Link: 35047667

Variant Present in the following documents:

• Main text
• NG2021017234.pdf

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Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Journal Of Medical Genetics

Chen, Yong-Ping YP; Yu, Shi-Hui SH; Wei, Qian-Qian QQ; Cao, Bei B; Gu, Xiao-Jing XJ; Chen, Xue-Ping XP; Song, Wei W; Zhao, Bi B; Wu, Ying Y; Sun, Ming-Ming MM; Liu, Fei-Fei FF; Hou, Yan-Bing YB; Ou, Ru-Wei RW; Zhang, Ling-Yu LY; Liu, Kun-Cheng KC; Lin, Jun-Yu JY; Xu, Xin-Ran XR; Li, Chun-Yu CY; Yang, Jing J; Jiang, Zheng Z; Liu, Jiao J; Cheng, Yang-Fan YF; Xiao, Yi Y; Chen, Ke K; Feng, Fei F; Cai, Ying-Ying YY; Li, Shi-Rong SR; Hu, Tao T; Yuan, Xiao-Qin XQ; Guo, Xiao-Yan XY; Liu, Hui H; Han, Qing Q; Zhou, Qing-Qing QQ; Shao, Na N; Li, Jian-Peng JP; Pan, Ping-Lei PL; Ma, Sha S; Shang, Hui-Fang HF

Publication Date: 2022-09

Variant appearance in text: rs148653339

PubMed Link: 34544842

Variant Present in the following documents:

• jmedgenet-2021-107965supp003.pdf

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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Blauwendraat, Cornelis C; Wilke, Carlo C; Simón-Sánchez, Javier J; Jansen, Iris E IE; Reifschneider, Anika A; Capell, Anja A; Haass, Christian C; Castillo-Lizardo, Melissa M; Biskup, Saskia S; Maetzler, Walter W; Rizzu, Patrizia P; Heutink, Peter P; Synofzik, Matthis M

Publication Date: 2018-02

Variant appearance in text: NEFH: N390T; rs148653339

PubMed Link: 28749476

Variant Present in the following documents:

• gim2017102x4.xlsx, sheet 2

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs148653339

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

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