Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10
Variant appearance in text: POLD1: 2546G>A; Arg849His
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
Publication Date: 2020-02-10
Variant appearance in text: POLD1: 2546G>A; Arg849His
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05
Variant appearance in text: POLD1: 2546G>A; Arg849His; rs3218775
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: POLD1: R849H; rs3218775
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Nature Genetics
Stolk, Lisette L; Perry, John R B JR; Chasman, Daniel I DI; He, Chunyan C; Mangino, Massimo M; Sulem, Patrick P; Barbalic, Maja M; Broer, Linda L; Byrne, Enda M EM; Ernst, Florian F; Esko, Tõnu T; Franceschini, Nora N; Gudbjartsson, Daniel F DF; Hottenga, Jouke-Jan JJ; Kraft, Peter P; McArdle, Patrick F PF; Porcu, Eleonora E; Shin, So-Youn SY; Smith, Albert V AV; van Wingerden, Sophie S; Zhai, Guangju G; Zhuang, Wei V WV; Albrecht, Eva E; Alizadeh, Behrooz Z BZ; Aspelund, Thor T; Bandinelli, Stefania S; Lauc, Lovorka Barac LB; Beckmann, Jacques S JS; Boban, Mladen M; Boerwinkle, Eric E; Broekmans, Frank J FJ; Burri, Andrea A; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Constance C; Cornelis, Marilyn C MC; Corre, Tanguy T; Coviello, Andrea D AD; d'Adamo, Pio P; Davies, Gail G; de Faire, Ulf U; de Geus, Eco J C EJ; Deary, Ian J IJ; Dedoussis, George V Z GV; Deloukas, Panagiotis P; Ebrahim, Shah S; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan G JG; Fauser, Bart C J M BC; Ferreli, Liana L; Ferrucci, Luigi L; Fischer, Krista K; Folsom, Aaron R AR; Garcia, Melissa E ME; Gasparini, Paolo P; Gieger, Christian C; Glazer, Nicole N; Grobbee, Diederick E DE; Hall, Per P; Haller, Toomas T; Hankinson, Susan E SE; Hass, Merli M; Hayward, Caroline C; Heath, Andrew C AC; Hofman, Albert A; Ingelsson, Erik E; Janssens, A Cecile J W AC; Johnson, Andrew D AD; Karasik, David D; Kardia, Sharon L R SL; Keyzer, Jules J; Kiel, Douglas P DP; Kolcic, Ivana I; Kutalik, Zoltán Z; Lahti, Jari J; Lai, Sandra S; Laisk, Triin T; Laven, Joop S E JS; Lawlor, Debbie A DA; Liu, Jianjun J; Lopez, Lorna M LM; Louwers, Yvonne V YV; Magnusson, Patrik K E PK; Marongiu, Mara M; Martin, Nicholas G NG; Klaric, Irena Martinovic IM; Masciullo, Corrado C; McKnight, Barbara B; Medland, Sarah E SE; Melzer, David D; Mooser, Vincent V; Navarro, Pau P; Newman, Anne B AB; Nyholt, Dale R DR; Onland-Moret, N Charlotte NC; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peeters, Petra H M PH; Pistis, Giorgio G; Plump, Andrew S AS; Polasek, Ozren O; Pop, Victor J M VJ; Psaty, Bruce M BM; Räikkönen, Katri K; Rehnberg, Emil E; Rotter, Jerome I JI; Rudan, Igor I; Sala, Cinzia C; Salumets, Andres A; Scuteri, Angelo A; Singleton, Andrew A; Smith, Jennifer A JA; Snieder, Harold H; Soranzo, Nicole N; Stacey, Simon N SN; Starr, John M JM; Stathopoulou, Maria G MG; Stirrups, Kathleen K; Stolk, Ronald P RP; Styrkarsdottir, Unnur U; Sun, Yan V YV; Tenesa, Albert A; Thorand, Barbara B; Toniolo, Daniela D; Tryggvadottir, Laufey L; Tsui, Kim K; Ulivi, Sheila S; van Dam, Rob M RM; van der Schouw, Yvonne T YT; van Gils, Carla H CH; van Nierop, Peter P; Vink, Jacqueline M JM; Visscher, Peter M PM; Voorhuis, Marlies M; Waeber, Gérard G; Wallaschofski, Henri H; Wichmann, H Erich HE; Widen, Elisabeth E; Wijnands-van Gent, Colette J M CJ; Willemsen, Gonneke G; Wilson, James F JF; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Yerges-Armstrong, Laura M LM; Zemunik, Tatijana T; Zgaga, Lina L; Zillikens, M Carola MC; Zygmunt, Marek M; , ; Arnold, Alice M AM; Boomsma, Dorret I DI; Buring, Julie E JE; Crisponi, Laura L; Demerath, Ellen W EW; Gudnason, Vilmundur V; Harris, Tamara B TB; Hu, Frank B FB; Hunter, David J DJ; Launer, Lenore J LJ; Metspalu, Andres A; Montgomery, Grant W GW; Oostra, Ben A BA; Ridker, Paul M PM; Sanna, Serena S; Schlessinger, David D; Spector, Tim D TD; Stefansson, Kari K; Streeten, Elizabeth A EA; Thorsteinsdottir, Unnur U; Uda, Manuela M; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Völzke, Henry H; Murray, Anna A; Murabito, Joanne M JM; Visser, Jenny A JA; Lunetta, Kathryn L KL