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
Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.
Annals Of Medicine
Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.
Acta Neuropathologica
Silvennoinen, Katri K; Gawel, Kinga K; Tsortouktzidis, Despina D; Pitsch, Julika J; Alhusaini, Saud S; van Loo, Karen M J KMJ; Picardo, Richard R; Michalak, Zuzanna Z; Pagni, Susanna S; Martins Custodio, Helena H; Mills, James J; Whelan, Christopher D CD; de Zubicaray, Greig I GI; McMahon, Katie L KL; van der Ent, Wietske W; Kirstein-Smardzewska, Karolina J KJ; Tiraboschi, Ettore E; Mudge, Jonathan M JM; Frankish, Adam A; Thom, Maria M; Wright, Margaret J MJ; Thompson, Paul M PM; Schoch, Susanne S; Becker, Albert J AJ; Esguerra, Camila V CV; Sisodiya, Sanjay M SM
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
Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.
Cureus
Janicki, Piotr K PK; Ruiz-Velasco, Victor V; Adhikary, Sanjib 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.
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.
Journal Of Clinical Neurology (Seoul, Korea)
Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC
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
Painful Temporomandibular Disorder: Decade of Discovery from OPPERA Studies.
Journal Of Dental Research
Slade, G D GD; Ohrbach, R R; Greenspan, J D JD; Fillingim, R B RB; Bair, E E; Sanders, A E AE; Dubner, R R; Diatchenko, L L; Meloto, C B CB; Smith, S S; Maixner, W W
Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.
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
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
Common variants associated with general and MMR vaccine-related febrile seizures.
Nature Genetics
Feenstra, Bjarke B; Pasternak, Björn B; Geller, Frank F; Carstensen, Lisbeth L; Wang, Tongfei T; Huang, Fen F; Eitson, Jennifer L JL; Hollegaard, Mads V MV; Svanström, Henrik H; Vestergaard, Mogens M; Hougaard, David M DM; Schoggins, John W JW; Jan, Lily Yeh LY; Melbye, Mads M; Hviid, Anders A
Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study.
The Journal Of Pain
Smith, Shad B SB; Mir, Ellen E; Bair, Eric E; Slade, Gary D GD; Dubner, Ronald R; Fillingim, Roger B RB; Greenspan, Joel D JD; Ohrbach, Richard R; Knott, Charles C; Weir, Bruce B; Maixner, William W; Diatchenko, Luda L
Summary of findings from the OPPERA prospective cohort study of incidence of first-onset temporomandibular disorder: implications and future directions.
The Journal Of Pain
Slade, Gary D GD; Fillingim, Roger B RB; Sanders, Anne E AE; Bair, Eric E; Greenspan, Joel D JD; Ohrbach, Richard R; Dubner, Ronald R; Diatchenko, Luda L; Smith, Shad B SB; Knott, Charles C; Maixner, William W