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
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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: TRPM1: N802N; rs2288242
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.
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: TRPM1: N802N; rs2288242
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: TRPM1: N802N; rs2288242
Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia.
Psychiatric Genetics
Stephens, Sarah H SH; Franks, Alexis A; Berger, Ralph R; Palionyte, Milda M; Fingerlin, Tasha E TE; Wagner, Brandie B; Logel, Judith J; Olincy, Ann A; Ross, Randal G RG; Freedman, Robert R; Leonard, Sherry S
Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans.
Clinica Chimica Acta; International Journal Of Clinical Chemistry
Thameem, Farook F; Puppala, Sobha S; Arar, Nedal H NH; Blangero, John J; Duggirala, Ravindranath R; Abboud, Hanna E HE
"Replicated" genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Drgon, Tomas T; Johnson, Catherine A CA; Nino, Michelle M; Drgonova, Jana J; Walther, Donna M DM; Uhl, George R GR
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
American Journal Of Human Genetics
Audo, Isabelle I; Kohl, Susanne S; Leroy, Bart P BP; Munier, Francis L FL; Guillonneau, Xavier X; Mohand-Saïd, Saddek S; Bujakowska, Kinga K; Nandrot, Emeline F EF; Lorenz, Birgit B; Preising, Markus M; Kellner, Ulrich U; Renner, Agnes B AB; Bernd, Antje A; Antonio, Aline A; Moskova-Doumanova, Veselina V; Lancelot, Marie-Elise ME; Poloschek, Charlotte M CM; Drumare, Isabelle I; Defoort-Dhellemmes, Sabine S; Wissinger, Bernd B; Léveillard, Thierry T; Hamel, Christian P CP; Schorderet, Daniel F DF; De Baere, Elfride E; Berger, Wolfgang W; Jacobson, Samuel G SG; Zrenner, Eberhart E; Sahel, José-Alain JA; Bhattacharya, Shomi S SS; Zeitz, Christina C
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
American Journal Of Human Genetics
Li, Zheng Z; Sergouniotis, Panagiotis I PI; Michaelides, Michel M; Mackay, Donna S DS; Wright, Genevieve A GA; Devery, Sophie S; Moore, Anthony T AT; Holder, Graham E GE; Robson, Anthony G AG; Webster, Andrew R AR