Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: LRRC34: 856T>A; Leu286Ile
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
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Cell Genomics
Taub, Margaret A MA; Conomos, Matthew P MP; Keener, Rebecca R; Iyer, Kruthika R KR; Weinstock, Joshua S JS; Yanek, Lisa R LR; Lane, John J; Miller-Fleming, Tyne W TW; Brody, Jennifer A JA; Raffield, Laura M LM; McHugh, Caitlin P CP; Jain, Deepti D; Gogarten, Stephanie M SM; Laurie, Cecelia A CA; Keramati, Ali A; Arvanitis, Marios M; Smith, Albert V AV; Heavner, Benjamin B; Barwick, Lucas L; Becker, Lewis C LC; Bis, Joshua C JC; Blangero, John J; Bleecker, Eugene R ER; Burchard, Esteban G EG; Celedón, Juan C JC; Chang, Yen Pei C YPC; Custer, Brian B; Darbar, Dawood D; de Las Fuentes, Lisa L; DeMeo, Dawn L DL; Freedman, Barry I BI; Garrett, Melanie E ME; Gladwin, Mark T MT; Heckbert, Susan R SR; Hidalgo, Bertha A BA; Irvin, Marguerite R MR; Islam, Talat T; Johnson, W Craig WC; Kaab, Stefan S; Launer, Lenore L; Lee, Jiwon J; Liu, Simin S; Moscati, Arden A; North, Kari E KE; Peyser, Patricia A PA; Rafaels, Nicholas N; Seidman, Christine C; Weeks, Daniel E DE; Wen, Fayun F; Wheeler, Marsha M MM; Williams, L Keoki LK; Yang, Ivana V IV; Zhao, Wei W; Aslibekyan, Stella S; Auer, Paul L PL; Bowden, Donald W DW; Cade, Brian E BE; Chen, Zhanghua Z; Cho, Michael H MH; Cupples, L Adrienne LA; Curran, Joanne E JE; Daya, Michelle M; Deka, Ranjan R; Eng, Celeste C; Fingerlin, Tasha E TE; Guo, Xiuqing X; Hou, Lifang L; Hwang, Shih-Jen SJ; Johnsen, Jill M JM; Kenny, Eimear E EE; Levin, Albert M AM; Liu, Chunyu C; Minster, Ryan L RL; Naseri, Take T; Nouraie, Mehdi M; Reupena, Muagututi'a Sefuiva MS; Sabino, Ester C EC; Smith, Jennifer A JA; Smith, Nicholas L NL; Su, Jessica Lasky JL; Taylor, James G JG; Telen, Marilyn J MJ; Tiwari, Hemant K HK; Tracy, Russell P RP; White, Marquitta J MJ; Zhang, Yingze Y; Wiggins, Kerri L KL; Weiss, Scott T ST; Vasan, Ramachandran S RS; Taylor, Kent D KD; Sinner, Moritz F MF; Silverman, Edwin K EK; Shoemaker, M Benjamin MB; Sheu, Wayne H-H WH; Sciurba, Frank F; Schwartz, David A DA; Rotter, Jerome I JI; Roden, Daniel D; Redline, Susan S; Raby, Benjamin A BA; Psaty, Bruce M BM; Peralta, Juan M JM; Palmer, Nicholette D ND; Nekhai, Sergei S; Montgomery, Courtney G CG; Mitchell, Braxton D BD; Meyers, Deborah A DA; McGarvey, Stephen T ST; , ; Mak, Angel Cy AC; Loos, Ruth Jf RJ; Kumar, Rajesh R; Kooperberg, Charles C; Konkle, Barbara A BA; Kelly, Shannon S; Kardia, Sharon Lr SL; Kaplan, Robert R; He, Jiang J; Gui, Hongsheng H; Gilliland, Frank D FD; Gelb, Bruce D BD; Fornage, Myriam M; Ellinor, Patrick T PT; de Andrade, Mariza M; Correa, Adolfo A; Chen, Yii-Der Ida YI; Boerwinkle, Eric E; Barnes, Kathleen C KC; Ashley-Koch, Allison E AE; Arnett, Donna K DK; , ; , ; , ; Laurie, Cathy C CC; Abecasis, Goncalo G; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Levy, Daniel D; Ruczinski, Ingo I; Aviv, Abraham A; Blackwell, Thomas W TW; Thornton, Timothy T; O'Connell, Jeff J; Cox, Nancy J NJ; Perry, James A JA; Armanios, Mary M; Battle, Alexis A; Pankratz, Nathan N; Reiner, Alexander P AP; Mathias, Rasika A RA
Variability in newborn telomere length is explained by inheritance and intrauterine environment.
Bmc Medicine
Chen, Li L; Ling, Karen Tan Mei KTM; Gong, Min M; Chong, Mary F F MFF; Tan, Kok Hian KH; Chong, Yap Seng YS; Meaney, Michael J MJ; Gluckman, Peter D PD; Eriksson, Johan G JG; Karnani, Neerja N
Variability in newborn telomere length is explained by inheritance and intrauterine environment.
Bmc Medicine
Chen, Li L; Tan, Karen Mei Ling KML; Gong, Min M; Chong, Mary F F MFF; Tan, Kok Hian KH; Chong, Yap Seng YS; Meaney, Michael J MJ; Gluckman, Peter D PD; Eriksson, Johan G JG; Karnani, Neerja N
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Genome Instability in Multiple Myeloma: Facts and Factors.
Cancers
Aksenova, Anna Y AY; Zhuk, Anna S AS; Lada, Artem G AG; Zotova, Irina V IV; Stepchenkova, Elena I EI; Kostroma, Ivan I II; Gritsaev, Sergey V SV; Pavlov, Youri I YI
Genome Instability in Multiple Myeloma: Facts and Factors.
Cancers
Aksenova, Anna Y AY; Zhuk, Anna S AS; Lada, Artem G AG; Zotova, Irina V IV; Stepchenkova, Elena I EI; Kostroma, Ivan I II; Gritsaev, Sergey V SV; Pavlov, Youri I YI
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: LRRC34: 856T>A; L286I; rs10936600
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
Assessing the Relationship Between Leukocyte Telomere Length and Cancer Risk/Mortality in UK Biobank and TCGA Datasets With the Genetic Risk Score and Mendelian Randomization Approaches.
Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.
Plos One
Protsenko, Ekaterina E; Rehkopf, David D; Prather, Aric A AA; Epel, Elissa E; Lin, Jue J
Coinherited genetics of multiple myeloma and its precursor, monoclonal gammopathy of undetermined significance.
Blood Advances
Clay-Gilmour, Alyssa I AI; Hildebrandt, Michelle A T MAT; Brown, Elizabeth E EE; Hofmann, Jonathan N JN; Spinelli, John J JJ; Giles, Graham G GG; Cozen, Wendy W; Bhatti, Parveen P; Wu, Xifeng X; Waller, Rosalie G RG; Belachew, Alem A AA; Robinson, Dennis P DP; Norman, Aaron D AD; Sinnwell, Jason P JP; Berndt, Sonja I SI; Rajkumar, S Vincent SV; Kumar, Shaji K SK; Chanock, Stephen J SJ; Machiela, Mitchell J MJ; Milne, Roger L RL; Slager, Susan L SL; Camp, Nicola J NJ; Ziv, Elad E; Vachon, Celine M CM
Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length.
Frontiers In Genetics
van der Spek, Ashley A; Warner, Sophie C SC; Broer, Linda L; Nelson, Christopher P CP; Vojinovic, Dina D; Ahmad, Shahzad S; Arp, Pascal P PP; Brouwer, Rutger W W RWW; Denniff, Matthew M; van den Hout, Mirjam C G N MCGN; van Rooij, Jeroen G J JGJ; Kraaij, Robert R; van IJcken, Wilfred F J WFJ; Samani, Nilesh J NJ; Ikram, M Arfan MA; Uitterlinden, André G AG; Codd, Veryan V; Amin, Najaf N; van Duijn, Cornelia M CM
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
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
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
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: LRRC34: L286I; rs10936600
Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
Human Genomics
Went, Molly M; Kinnersley, Ben B; Sud, Amit A; Johnson, David C DC; Weinhold, Niels N; Försti, Asta A; van Duin, Mark M; Orlando, Giulia G; Mitchell, Jonathan S JS; Kuiper, Rowan R; Walker, Brian A BA; Gregory, Walter M WM; Hoffmann, Per P; Jackson, Graham H GH; Nöthen, Markus M MM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Goldschmidt, Hartmut H; Stefansson, Kari K; Hemminki, Kari K; Nilsson, Björn B; Morgan, Gareth J GJ; Houlston, Richard S RS
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
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
Nature Communications
Went, Molly M; Sud, Amit A; Försti, Asta A; Halvarsson, Britt-Marie BM; Weinhold, Niels N; Kimber, Scott S; van Duin, Mark M; Thorleifsson, Gudmar G; Holroyd, Amy A; Johnson, David C DC; Li, Ni N; Orlando, Giulia G; Law, Philip J PJ; Ali, Mina M; Chen, Bowang B; Mitchell, Jonathan S JS; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Bandapalli, Obul R OR; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Jöckel, Karl-Heinz KH; Johnsson, Ellinor E; Kristinsson, Sigurður Y SY; Mellqvist, Ulf-Henrik UH; Nahi, Hareth H; Easton, Douglas D; Pharoah, Paul P; Dunning, Alison A; Peto, Julian J; Canzian, Federico F; Swerdlow, Anthony A; Eeles, Rosalind A RA; Kote-Jarai, ZSofia Z; Muir, Kenneth K; Pashayan, Nora N; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Andersen, Niels Frost NF; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Goldschmidt, Hartmut H; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS; ,
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04
Variant appearance in text: LRRC34: L286I; rs10936600
A genome-wide association study yields five novel thyroid cancer risk loci.
Nature Communications
Gudmundsson, Julius J; Thorleifsson, Gudmar G; Sigurdsson, Jon K JK; Stefansdottir, Lilja L; Jonasson, Jon G JG; Gudjonsson, Sigurjon A SA; Gudbjartsson, Daniel F DF; Masson, Gisli G; Johannsdottir, Hrefna H; Halldorsson, Gisli H GH; Stacey, Simon N SN; Helgason, Hannes H; Sulem, Patrick P; Senter, Leigha L; He, Huiling H; Liyanarachchi, Sandya S; Ringel, Matthew D MD; Aguillo, Esperanza E; Panadero, Angeles A; Prats, Enrique E; Garcia-Castaño, Almudena A; De Juan, Ana A; Rivera, Fernando F; Xu, Li L; Kiemeney, Lambertus A LA; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Olafsson, Isleifur I; Kristvinsson, Hoskuldur H; Netea-Maier, Romana T RT; Jonsson, Thorvaldur T; Mayordomo, Jose I JI; Plantinga, Theo S TS; Hjartarson, Hannes H; Hrafnkelsson, Jon J; Sturgis, Erich M EM; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; de la Chapelle, Albert A; Stefansson, Kari K
Publication Date: 2017-02-14
Variant appearance in text: LRRC34: Leu286Ile; rs10936600
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
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: LRRC34: L286I; rs10936600