Results 111 to 120 of about 2,683 (174)
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome. [PDF]
Genome MedFortuno C, Frone MN, Mester J, de la Hoya M, Mai PL, Pesaran T, Achatz MI, Bassett R, Bustamante C, Crowley S, de Andrade KC, Evans DG, Feng B, Fuqua L, Harrell MI, Hatton JN, Huether R, Kesserwan C, Lee K, MacFarland SP, Maciaszek JL, Maxwell K, McGoldrick K, Murphy M, Nehoray B, Penkert J, Pinto EM, Plon SE, Schwartz-Levine A, Thompson AS, Wang W, Zambetti GP, Zelley K, James PA, Savage SA, Kratz CP, Spurdle AB. +36 moreeuropepmc +1 more sourceMondo: integrating disease terminology across communities. [PDF]
GeneticsVasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-Stupp D, Zankl A, Zhang XA, McMurry JA, Chute CG, Hamosh A, Mungall CJ, Haendel MA. +114 moreeuropepmc +1 more sourceBeyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms. [PDF]
GeneticsTautz D, Pallares LF, Andersson L, Barghi N, Barton N, Bay R, Chan YF, Hancock A, Kaiser TS, Koenig D, Kontarakis Z, Liedvogel M, de Meaux J, Nordborg M, Palmer AA, Purugganan M, Schlötterer C, Schmid K, Stainier DYR, Weigel D, Wolf JBW, Ebert D, Gibson G. +22 moreeuropepmc +1 more sourceMulti-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]
CerebellumThomsen M, Borsche M, Yépez VA, Rasche D, Ullrich KK, Tadic V, Abdelwakeel SM, Busch H, Franzenburg S, Trinh J, Klein C, Lohmann K, Brüggemann N. +12 moreeuropepmc +1 more sourceAn evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility gene. [PDF]
Genet Med OpenGu H, Yu Y, Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Muzny DM, Mitchell D, Taylor O, Jhangiani SN, Dugan-Perez S, Wu Y, Doddapaneni H, Bhamidipati SV, Gingras MC, Posey JE, Gibbs RA, Huff CD, Plon SE, Lupo PJ, Sabo A. +21 moreeuropepmc +1 more sourceGermline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. [PDF]
Clin Cancer ResFiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. +36 moreeuropepmc +1 more sourceComparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. [PDF]
JCO Precis OncolDesrosiers-Battu LR, Wang T, Reuther J, Miles G, Dai H, Jo E, Russell H, Raesz-Martinez R, Recinos A, Gutierrez S, Thomas A, Berenson E, Corredor J, Nugent K, Wyatt Castillo R, Althaus R, Littlejohn R, Gessay S, Tomlinson G, Gill J, Bernini JC, Vallance K, Griffin T, Scollon S, Lin FY, Eng C, Kulkarni S, Hilsenbeck SG, Roy A, McGuire AL, Parsons DW, Plon SE. +31 moreeuropepmc +1 more source
