Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
American Journal Of Human Genetics
Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T
Publication Date: 2022-09-01
Variant appearance in text: ALDOB: 524C>A; Ala175Asp
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nature Communications
Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF
Publication Date: 2022-07-26
Variant appearance in text: ALDOB: 524C>A; Ala175Asp
EZTraits: A programmable tool to evaluate multi-site deterministic traits.
Plos One
Carland, Matt M; Pedersen, Haley H; Bose, Madhuchanda M; Novković, Biljana B; Manson, Charles C; Lahan, Shany S; Pavlenko, Alex A; Yazdi, Puya G PG; Grabherr, Manfred G MG
Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.
Bmc Gastroenterology
Taneva, Irina I; Grumann, Dorothee D; Schmidt, Dietmar D; Taneva, Elina E; von Arnim, Ulrike U; Ansorge, Thomas T; Wex, Thomas T
Publication Date: 2022-04-06
Variant appearance in text: ALDOB: 524C>A; Ala175Asp; rs76917243
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: ALDOB: 524C>A; Ala175Asp; rs76917243
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: ALDOB: 524C>A; Ala175Asp
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
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: ALDOB: 524C>A; Ala175Asp; rs76917243
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: ALDOB: A175D; rs76917243
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: ALDOB: 524C>A; A175D; rs76917243
Molecular characterization of metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) beyond KIT/PDGFRα genotype evaluated by next generation sequencing (NGS).
Oncotarget
Saponara, Maristella M; Urbini, Milena M; Astolfi, Annalisa A; Indio, Valentina V; Ercolani, Giorgio G; Del Gaudio, Massimo M; Santini, Donatella D; Pirini, Maria Giulia MG; Fiorentino, Michelangelo M; Nannini, Margherita M; Lolli, Cristian C; Mandrioli, Anna A; Gatto, Lidia L; Brandi, Giovanni G; Biasco, Guido G; Pinna, Antonio Daniele AD; Pantaleo, Maria Abbondanza MA
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
Jimd Reports
Ferri, Lorenzo L; Caciotti, Anna A; Cavicchi, Catia C; Rigoldi, Miriam M; Parini, Rossella R; Caserta, Marina M; Chibbaro, Guido G; Gasperini, Serena S; Procopio, Elena E; Donati, Maria Alice MA; Guerrini, Renzo R; Morrone, Amelia A
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: ALDOB: 524C>A; A175D; rs76917243