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
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: APOB: 6936C>T; D2312D; rs1041968
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
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Nature Communications
Natarajan, Pradeep P; Peloso, Gina M GM; Zekavat, Seyedeh Maryam SM; Montasser, May M; Ganna, Andrea A; Chaffin, Mark M; Khera, Amit V AV; Zhou, Wei W; Bloom, Jonathan M JM; Engreitz, Jesse M JM; Ernst, Jason J; O'Connell, Jeffrey R JR; Ruotsalainen, Sanni E SE; Alver, Maris M; Manichaikul, Ani A; Johnson, W Craig WC; Perry, James A JA; Poterba, Timothy T; Seed, Cotton C; Surakka, Ida L IL; Esko, Tonu T; Ripatti, Samuli S; Salomaa, Veikko V; Correa, Adolfo A; Vasan, Ramachandran S RS; Kellis, Manolis M; Neale, Benjamin M BM; Lander, Eric S ES; Abecasis, Goncalo G; Mitchell, Braxton B; Rich, Stephen S SS; Wilson, James G JG; Cupples, L Adrienne LA; Rotter, Jerome I JI; Willer, Cristen J CJ; Kathiresan, Sekar 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.
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
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
Molecular Genetics & Genomic Medicine
Thomas, Ellen R A ER; Atanur, Santosh S SS; Norsworthy, Penny J PJ; Encheva, Vesela V; Snijders, Ambrosius P AP; Game, Laurence L; Vandrovcova, Jana J; Siddiq, Afshan A; Seed, Mary M; Soutar, Anne K AK; Aitman, Timothy J TJ
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR