Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
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
Publication Date: 2021-01-21
Variant appearance in text: CYP11B1: 128G>A; R43Q; rs4534
Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.
Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
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.
Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Khattab, Ahmed A; Haider, Shozeb S; Kumar, Ameet A; Dhawan, Samarth S; Alam, Dauood D; Romero, Raquel R; Burns, James J; Li, Di D; Estatico, Jessica J; Rahi, Simran S; Fatima, Saleel S; Alzahrani, Ali A; Hafez, Mona M; Musa, Noha N; Razzghy Azar, Maryam M; Khaloul, Najoua N; Gribaa, Moez M; Saad, Ali A; Charfeddine, Ilhem Ben IB; Bilharinho de Mendonça, Berenice B; Belgorosky, Alicia A; Dumic, Katja K; Dumic, Miroslav M; Aisenberg, Javier J; Kandemir, Nurgun N; Alikasifoglu, Ayfer A; Ozon, Alev A; Gonc, Nazli N; Cheng, Tina T; Kuhnle-Krahl, Ursula U; Cappa, Marco M; Holterhus, Paul-Martin PM; Nour, Munier A MA; Pacaud, Daniele D; Holtzman, Assaf A; Li, Sun S; Zaidi, Mone M; Yuen, Tony T; New, Maria I MI
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
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
High-quality DNA sequence capture of 524 disease candidate genes.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Shen, Peidong P; Wang, Wenyi W; Krishnakumar, Sujatha S; Palm, Curtis C; Chi, Aung-Kyaw AK; Enns, Gregory M GM; Davis, Ronald W RW; Speed, Terence P TP; Mindrinos, Michael N MN; Scharfe, Curt C
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
The Journal Of Clinical Endocrinology And Metabolism
Parajes, Silvia S; Loidi, Lourdes L; Reisch, Nicole N; Dhir, Vivek V; Rose, Ian T IT; Hampel, Rainer R; Quinkler, Marcus M; Conway, Gerard S GS; Castro-Feijóo, Lidia L; Araujo-Vilar, David D; Pombo, Manuel M; Dominguez, Fernando F; Williams, Emma L EL; Cole, Trevor R TR; Kirk, Jeremy M JM; Kaminsky, Elke E; Rumsby, Gill G; Arlt, Wiebke W; Krone, Nils N