Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Associations between prenatal exposure to cadmium and lead with neural tube defect risks are modified by single-nucleotide polymorphisms of fetal MTHFR and SOD2: a case-control study.
Environmental Health : A Global Access Science Source
Liu, Mengyuan M; Yu, Jinhui J; Su, Zaiming Z; Sun, Ying Y; Liu, Yaqiong Y; Xie, Qing Q; Li, Zhiwen Z; Wang, Linlin L; Zhang, Jie J; Jin, Lei L; Ren, Aiguo A
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: LRP8: G419G; rs2297660
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: LRP8: G419G; rs2297660
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: LRP8: G419G; rs2297660
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.
Molecular Psychiatry
Chen, X X; Lee, G G; Maher, B S BS; Fanous, A H AH; Chen, J J; Zhao, Z Z; Guo, A A; van den Oord, E E; Sullivan, P F PF; Shi, J J; Levinson, D F DF; Gejman, P V PV; Sanders, A A; Duan, J J; Owen, M J MJ; Craddock, N J NJ; O'Donovan, M C MC; Blackman, J J; Lewis, D D; Kirov, G K GK; Qin, W W; Schwab, S S; Wildenauer, D D; Chowdari, K K; Nimgaonkar, V V; Straub, R E RE; Weinberger, D R DR; O'Neill, F A FA; Walsh, D D; Bronstein, M M; Darvasi, A A; Lencz, T T; Malhotra, A K AK; Rujescu, D D; Giegling, I I; Werge, T T; Hansen, T T; Ingason, A A; Nöethen, M M MM; Rietschel, M M; Cichon, S S; Djurovic, S S; Andreassen, O A OA; Cantor, R M RM; Ophoff, R R; Corvin, A A; Morris, D W DW; Gill, M M; Pato, C N CN; Pato, M T MT; Macedo, A A; Gurling, H M D HM; McQuillin, A A; Pimm, J J; Hultman, C C; Lichtenstein, P P; Sklar, P P; Purcell, S M SM; Scolnick, E E; St Clair, D D; Blackwood, D H R DH; Kendler, K S KS; , ; ,