Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Cell Reports. Medicine
Nair, Nishanth Ulhas NU; Jiang, Qun Q; Wei, Jun Stephen JS; Misra, Vikram Alexander VA; Morrow, Betsy B; Kesserwan, Chimene C; Hermida, Leandro C LC; Lee, Joo Sang JS; Mian, Idrees I; Zhang, Jingli J; Lebensohn, Alexandra A; Miettinen, Markku M; Sengupta, Manjistha M; Khan, Javed J; Ruppin, Eytan E; Hassan, Raffit R
Publication Date: 2023-02-08
Variant appearance in text: SDHA: 91C>T; Arg31Ter; rs142441643
Germline pathogenic variants in 786 neuroblastoma patients.
Medrxiv : The Preprint Server For Health Sciences
Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ
Publication Date: 2023-01-25
Variant appearance in text: SDHA: 91C>T; Arg31*; rs142441643
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Nature Communications
Zethoven, Magnus M; Martelotto, Luciano L; Pattison, Andrew A; Bowen, Blake B; Balachander, Shiva S; Flynn, Aidan A; Rossello, Fernando J FJ; Hogg, Annette A; Miller, Julie A JA; Frysak, Zdenek Z; Grimmond, Sean S; Fishbein, Lauren L; Tischler, Arthur S AS; Gill, Anthony J AJ; Hicks, Rodney J RJ; Dahia, Patricia L M PLM; Clifton-Bligh, Roderick R; Pacak, Karel K; Tothill, Richard W RW
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Endocrine-Related Cancer
Loughrey, Paul Benjamin PB; Roncaroli, Federico F; Healy, Estelle E; Weir, Philip P; Basetti, Madhu M; Casey, Ruth T RT; Hunter, Steven J SJ; Korbonits, Márta M
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25
Variant appearance in text: SDHA: 91C>T; Arg31Ter; rs142441643
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Journal Of Medical Genetics
Hanson, Helen H; Durkie, Miranda M; Lalloo, Fiona F; Izatt, Louise L; McVeigh, Terri P TP; Cook, Jackie A JA; Brewer, Carole C; Drummond, James J; Butler, Samantha S; Cranston, Treena T; Casey, Ruth R; Tan, Tricia T; Morganstein, Daniel D; Eccles, Diana M DM; Tischkowitz, Marc M; Turnbull, Clare C; Woodward, Emma Roisin ER; Maher, Eamonn R ER; ,
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Endocrine-Related Cancer
Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Phase Ib Trial of the Combination of Imatinib and Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumors.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Chi, Ping P; Qin, Li-Xuan LX; Camacho, Niedzica N; Kelly, Ciara M CM; D'Angelo, Sandra P SP; Dickson, Mark A MA; Gounder, Mrinal M MM; Keohan, Mary L ML; Movva, Sujana S; Nacev, Benjamin A BA; Rosenbaum, Evan E; Thornton, Katherine A KA; Crago, Aimee M AM; Francis, Jasmine H JH; Martindale, Moriah M; Phelan, Haley T HT; Biniakewitz, Matthew D MD; Lee, Cindy J CJ; Singer, Samuel S; Hwang, Sinchun S; Berger, Michael F MF; Chen, Yu Y; Antonescu, Cristina R CR; Tap, William D WD
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Frontiers In Oncology
Pantaleo, Maria A MA; Urbini, Milena M; Schipani, Angela A; Nannini, Margherita M; Indio, Valentina V; De Leo, Antonio A; Vincenzi, Bruno B; Brunello, Antonella A; Grignani, Giovanni G; Casagrande, Mariaelena M; Fumagalli, Elena E; Conca, Elena E; Saponara, Maristella M; Gruppioni, Elisa E; Altimari, Annalisa A; De Biase, Dario D; Tallini, Giovanni G; Ravegnini, Gloria G; Turchetti, Daniela D; Seri, Marco M; Ardizzoni, Andrea A; Secchiero, Paola P; Astolfi, Annalisa A
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Cancers
Schipper, Luuk J LJ; Monkhorst, Kim K; Samsom, Kris G KG; Bosch, Linda J W LJW; Snaebjornsson, Petur P; van Boven, Hester H; Roepman, Paul P; van der Kolk, Lizet E LE; van Houdt, Winan J WJ; van der Graaf, Winette T A WTA; Meijer, Gerrit A GA; Voest, Emile E EE
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Cancers
Schipper, Luuk J LJ; Monkhorst, Kim K; Samsom, Kris G KG; Bosch, Linda J W LJW; Snaebjornsson, Petur P; van Boven, Hester H; Roepman, Paul P; van der Kolk, Lizet E LE; van Houdt, Winan J WJ; van der Graaf, Winette T A WTA; Meijer, Gerrit A GA; Voest, Emile E EE
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Jco Precision Oncology
Schienda, Jaclyn J; Church, Alanna J AJ; Corson, Laura B LB; Decker, Brennan B; Clinton, Catherine M CM; Manning, Danielle K DK; Imamovic-Tuco, Alma A; Reidy, Deirdre D; Strand, Gianna R GR; Applebaum, Mark A MA; Bagatell, Rochelle R; DuBois, Steven G SG; Glade-Bender, Julia L JL; Kang, Wenjun W; Kim, AeRang A; Laetsch, Theodore W TW; Macy, Margaret E ME; Maese, Luke L; Pinto, Navin N; Sabnis, Amit J AJ; Schiffman, Joshua D JD; Colace, Susan I SI; Volchenboum, Samuel L SL; Weiser, Daniel A DA; Nowak, Jonathan A JA; Lindeman, Neal I NI; Janeway, Katherine A KA; Crompton, Brian D BD; Kamihara, Junne J
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2021
Variant appearance in text: SDHA: 91C>T; Arg31Ter; rs142441643
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Molecular Genetics & Genomic Medicine
Sturrock, Beattie R H BRH; Macnamara, Ellen F EF; McGuire, Peter P; Kruk, Shannon S; Yang, Ivan I; Murphy, Jennifer J; , ; Tifft, Cyndi J CJ; Gordon-Lipkin, Eliza E
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST).
Ejnmmi Research
Aloj, Luigi L; Giger, Olivier O; Mendichovszky, Iosif A IA; Challis, Ben G BG; Ronel, Meytar M; Harper, Ines I; Cheow, Heok H; Hoopen, Rogier Ten RT; Pitfield, Deborah D; Gallagher, Ferdia A FA; Attili, Bala B; McLean, Mary M; Jones, Robin L RL; Dileo, Palma P; Bulusu, Venkata Ramesh VR; Maher, Eamonn R ER; Casey, Ruth T RT
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Scientific Reports
Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Brosda, Sandra S; Patel, Kalpana K; Koufariotis, Lambros T LT; Oey, Harald H; Nones, Katia K; Wood, Scott S; Pearson, John V JV; Lonie, James M JM; Arneil, Melissa M; Atkinson, Victoria V; Smithers, B Mark BM; Waddell, Nicola N; Barbour, Andrew P AP
Publication Date: 2020-10-19
Variant appearance in text: SDHA: R31*; rs142441643
Molecular characterization of sarcomatoid clear cell renal cell carcinoma unveils new candidate oncogenic drivers.
Scientific Reports
Malouf, Gabriel G GG; Flippot, Ronan R; Dong, Yiyu Y; Dinatale, Renzo G RG; Chen, Ying-Bei YB; Su, Xiaoping X; Compérat, Eva E; Rouprêt, Morgan M; Mano, Roy R; Blum, Kyle A KA; Yao, Hui H; Mouawad, Roger R; Spano, Jean-Philippe JP; Khayat, David D; Karam, Jose A JA; Ho, Thai H TH; Tickoo, Satish K SK; Russo, Paul P; Hsieh, James J JJ; Tannir, Nizar M NM; Hakimi, Abraham A AA
Publication Date: 2020-01-20
Variant appearance in text: SDHA: 91C>T; R31*; rs142441643
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
European Journal Of Human Genetics : Ejhg
Downie, Lilian L; Halliday, Jane J; Burt, Rachel R; Lunke, Sebastian S; Lynch, Elly E; Martyn, Melissa M; Poulakis, Zeffie Z; Gaff, Clara C; Sung, Valerie V; Wake, Melissa M; Hunter, Matthew F MF; Saunders, Kerryn K; Rose, Elizabeth E; Lewis, Sharon S; Jarmolowicz, Anna A; Phelan, Dean D; Rehm, Heidi L HL; , ; Amor, David J DJ
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: SDHA: 91C>T; Arg31*; rs142441643
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Scientific Reports
Casey, Ruth T RT; Ten Hoopen, Rogier R; Ochoa, Eguzkine E; Challis, Benjamin G BG; Whitworth, James J; Smith, Philip S PS; Martin, Jose Ezequiel JE; Clark, Graeme R GR; Rodger, Fay F; Maranian, Mel M; Allinson, Kieren K; Madhu, Basetti B; Roberts, Thomas T; Campos, Luis L; Anstee, Joanne J; Park, Soo-Mi SM; Marker, Alison A; Watts, Colin C; Bulusu, Venkata R VR; Giger, Olivier T OT; Maher, Eamonn R ER
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Jco Precision Oncology
Casey, Ruth T RT; McLean, Mary A MA; Madhu, Basetti B; Challis, Benjamin G BG; Ten Hoopen, Rogier R; Roberts, Thomas T; Clark, Graeme R GR; Pittfield, Deborah D; Simpson, Helen L HL; Bulusu, Venkata R VR; Allinson, Kieran K; Happerfield, Lisa L; Park, Soo-Mi SM; Marker, Alison A; Giger, Olivier O; Maher, Eamonn R ER; Gallagher, Ferdia A FA
Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.
Frontiers In Oncology
Jha, Abhishek A; de Luna, Kristine K; Balili, Charlene Ann CA; Millo, Corina C; Paraiso, Cecilia Angela CA; Ling, Alexander A; Gonzales, Melissa K MK; Viana, Bruna B; Alrezk, Rami R; Adams, Karen T KT; Tena, Isabel I; Chen, Alice A; Neuzil, Jiri J; Raygada, Margarita M; Kebebew, Electron E; Taieb, David D; O'Dorisio, M Sue MS; O'Dorisio, Thomas T; Civelek, Ali Cahid AC; Stratakis, Constantine A CA; Mercado-Asis, Leilani L; Pacak, Karel K
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Molecular Genetics & Genomic Medicine
Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Nature Communications
Rusch, Michael M; Nakitandwe, Joy J; Shurtleff, Sheila S; Newman, Scott S; Zhang, Zhaojie Z; Edmonson, Michael N MN; Parker, Matthew M; Jiao, Yuannian Y; Ma, Xiaotu X; Liu, Yanling Y; Gu, Jiali J; Walsh, Michael F MF; Becksfort, Jared J; Thrasher, Andrew A; Li, Yongjin Y; McMurry, James J; Hedlund, Erin E; Patel, Aman A; Easton, John J; Yergeau, Donald D; Vadodaria, Bhavin B; Tatevossian, Ruth G RG; Raimondi, Susana S; Hedges, Dale D; Chen, Xiang X; Hagiwara, Kohei K; McGee, Rose R; Robinson, Giles W GW; Klco, Jeffery M JM; Gruber, Tanja A TA; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J
Bayesian approach to determining penetrance of pathogenic SDH variants.
Journal Of Medical Genetics
Benn, Diana E DE; Zhu, Ying Y; Andrews, Katrina A KA; Wilding, Mathilda M; Duncan, Emma L EL; Dwight, Trisha T; Tothill, Richard W RW; Burgess, John J; Crook, Ashley A; Gill, Anthony J AJ; Hicks, Rodney J RJ; Kim, Edward E; Luxford, Catherine C; Marfan, Helen H; Richardson, Anne Louise AL; Robinson, Bruce B; Schlosberg, Arran A; Susman, Rachel R; Tacon, Lyndal L; Trainer, Alison A; Tucker, Katherine K; Maher, Eamonn R ER; Field, Michael M; Clifton-Bligh, Roderick J RJ