Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: HGF: 910G>A; Glu304Lys
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
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: HGF: 910G>A; E304K; rs5745687
The Role of Inflammatory Cytokines as Intermediates in the Pathway from Increased Adiposity to Disease.
Obesity (Silver Spring, Md.)
Kalaoja, Marita M; Corbin, Laura J LJ; Tan, Vanessa Y VY; Ahola-Olli, Ari V AV; Havulinna, Aki S AS; Santalahti, Kristiina K; Pitkänen, Niina N; Lehtimäki, Terho T; Lyytikäinen, Leo-Pekka LP; Raitoharju, Emma E; Seppälä, Ilkka I; Kähönen, Mika M; Ripatti, Samuli S; Palotie, Aarno A; Perola, Markus M; Viikari, Jorma S JS; Jalkanen, Sirpa S; Maksimow, Mikael M; Salomaa, Veikko V; Salmi, Marko M; Raitakari, Olli T OT; Kettunen, Johannes J; Timpson, Nicholas J NJ
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: HGF: 910G>A; rs5745687
Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA).
Annals Of Human Genetics
Larson, Nicholas B NB; Berardi, Cecilia C; Decker, Paul A PA; Wassel, Christina L CL; Kirsch, Phillip S PS; Pankow, James S JS; Sale, Michele M MM; de Andrade, Mariza M; Sicotte, Hugues H; Tang, Weihong W; Hanson, Naomi Q NQ; Tsai, Michael Y MY; Taylor, Kent D KD; Bielinski, Suzette J SJ
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: HGF: 910G>A; E304K; rs5745687
Genome-wide association study for endothelial growth factors.
Circulation. Cardiovascular Genetics
Lieb, Wolfgang W; Chen, Ming-Huei MH; Larson, Martin G MG; Safa, Radwan R; Teumer, Alexander A; Baumeister, Sebastian E SE; Lin, Honghuang H; Smith, Holly M HM; Koch, Manja M; Lorbeer, Roberto R; Völker, Uwe U; Nauck, Matthias M; Völzke, Henry H; Wallaschofski, Henri H; Sawyer, Douglas B DB; Vasan, Ramachandran S RS
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
Innate immunity gene polymorphisms and the risk of colorectal neoplasia.
Carcinogenesis
Chang, Cindy M CM; Chia, Victoria M VM; Gunter, Marc J MJ; Zanetti, Krista A KA; Ryan, Bríd M BM; Goodman, Julie E JE; Harris, Curtis C CC; Weissfeld, Joel J; Huang, Wen-Yi WY; Chanock, Stephen S; Yeager, Meredith M; Hayes, Richard B RB; Berndt, Sonja I SI; ,
Assessment of hepatocyte growth factor in ovarian cancer mortality.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Goode, Ellen L EL; Chenevix-Trench, Georgia G; Hartmann, Lynn C LC; Fridley, Brooke L BL; Kalli, Kimberly R KR; Vierkant, Robert A RA; Larson, Melissa C MC; White, Kristin L KL; Keeney, Gary L GL; Oberg, Trynda N TN; Cunningham, Julie M JM; Beesley, Jonathan J; Johnatty, Sharon E SE; Chen, Xiaoqing X; Goodman, Katelyn E KE; Armasu, Sebastian M SM; Rider, David N DN; Sicotte, Hugues H; Schmidt, Michele M MM; Elliott, Elaine A EA; Høgdall, Estrid E; Kjær, Susanne Krüger SK; Fasching, Peter A PA; Ekici, Arif B AB; Lambrechts, Diether D; Despierre, Evelyn E; Høgdall, Claus C; Lundvall, Lene L; Karlan, Beth Y BY; Gross, Jenny J; Brown, Robert R; Chien, Jeremy J; Duggan, David J DJ; Tsai, Ya-Yu YY; Phelan, Catherine M CM; Kelemen, Linda E LE; Peethambaram, Prema P PP; Schildkraut, Joellen M JM; Shridhar, Vijayalakshmi V; Sutphen, Rebecca R; Couch, Fergus J FJ; Sellers, Thomas A TA; ,