A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
The Lancet Regional Health. Europe
Thuesen, Anne Cathrine Baun ACB; Stæger, Frederik Filip FF; Kaci, Alba A; Solheim, Marie Holm MH; Aukrust, Ingvild I; Jørsboe, Emil E; Santander, Cindy G CG; Andersen, Mette K MK; Li, Zilong Z; Gilly, Arthur A; Stinson, Sara Elizabeth SE; Gjesing, Anette Prior AP; Bjerregaard, Peter P; Pedersen, Michael Lynge ML; Larsen, Christina Viskum Lytken CVL; Grarup, Niels N; Jørgensen, Marit E ME; Zeggini, Eleftheria E; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Albrechtsen, Anders A; Moltke, Ida I; Hansen, Torben T
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
Publication Date: 2022-10-14
Variant appearance in text: HNF1A: L17L; rs1169289
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
American Journal Of Human Genetics
Althari, Sara S; Najmi, Laeya A LA; Bennett, Amanda J AJ; Aukrust, Ingvild I; Rundle, Jana K JK; Colclough, Kevin K; Molnes, Janne J; Kaci, Alba A; Nawaz, Sameena S; van der Lugt, Timme T; Hassanali, Neelam N; Mahajan, Anubha A; Molven, Anders A; Ellard, Sian S; McCarthy, Mark I MI; Bjørkhaug, Lise L; Njølstad, Pål Rasmus PR; Gloyn, Anna L AL
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
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: HNF1A: L17L; rs1169289
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: HNF1A: L17L; rs1169289
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03
Variant appearance in text: HNF1A: L17L; rs1169289
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.
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Biochemia Medica
Pavić, Tamara T; Juszczak, Agata A; Pape Medvidović, Edita E; Burrows, Carla C; Šekerija, Mario M; Bennett, Amanda J AJ; Ćuća Knežević, Jadranka J; Gloyn, Anna L AL; Lauc, Gordan G; McCarthy, Mark I MI; Gornik, Olga O; Owen, Katharine R KR
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: HNF1A: L17L; rs1169289
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: HNF1A: L17L; rs1169289
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
Human Molecular Genetics
Schick, Ursula M UM; Auer, Paul L PL; Bis, Joshua C JC; Lin, Honghuang H; Wei, Peng P; Pankratz, Nathan N; Lange, Leslie A LA; Brody, Jennifer J; Stitziel, Nathan O NO; Kim, Daniel S DS; Carlson, Christopher S CS; Fornage, Myriam M; Haessler, Jeffery J; Hsu, Li L; Jackson, Rebecca D RD; Kooperberg, Charles C; Leal, Suzanne M SM; Psaty, Bruce M BM; Boerwinkle, Eric E; Tracy, Russell R; Ardissino, Diego D; Shah, Svati S; Willer, Cristen C; Loos, Ruth R; Melander, Olle O; Mcpherson, Ruth R; Hovingh, Kees K; Reilly, Muredach M; Watkins, Hugh H; Girelli, Domenico D; Fontanillas, Pierre P; Chasman, Daniel I DI; Gabriel, Stacey B SB; Gibbs, Richard R; Nickerson, Deborah A DA; Kathiresan, Sekar S; Peters, Ulrike U; Dupuis, Josée J; Wilson, James G JG; Rich, Stephen S SS; Morrison, Alanna C AC; Benjamin, Emelia J EJ; Gross, Myron D MD; Reiner, Alex P AP; , ; ,
Publication Date: 2015-01-15
Variant appearance in text: HNF1A: Leu17=; rs1169289
Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil.
Genetics And Molecular Biology
Bonatto, Naieli N; Nogaroto, Viviane V; Svidnicki, Paulo V PV; Milléo, Fábio Q FQ; Grassiolli, Sabrina S; Almeida, Mara C MC; Vicari, Marcelo R MR; Artoni, Roberto F RF