Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: ADSL: 1277G>A; Arg426His
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
American Journal Of Medical Genetics. Part A
Sitaram, Spatikha S; Banka, Hetalika C HC; Vassallo, Grace G; Pavaine, Julija J; Fairclough, Adele A; Wright, Ronnie R; Fairbanks, Lynette L; Bierau, Jörgen J; Bowden, Lydia L; Schwahn, Bernd B; Horman, Alistair A; Banka, Siddharth S
Publication Date: 2022-10-22
Variant appearance in text: ADSL: 1277G>A; Arg426His
GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.
Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06
Variant appearance in text: ADSL: 1277G>A; R426H; rs119450941
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Jama Network Open
Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH
Publication Date: 2021-07-01
Variant appearance in text: ADSL: 1277G>A; Arg426His
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Diagnostics (Basel, Switzerland)
Varesio, Costanza C; Gana, Simone S; Asaro, Alessia A; Ballante, Elena E; Cabini, Raffaella Fiamma RF; Tartara, Elena E; Bagnaschi, Michela M; Pasca, Ludovica L; Valente, Marialuisa M; Orcesi, Simona S; Cereda, Cristina C; Veggiotti, Pierangelo P; Borgatti, Renato R; Valente, Enza Maria EM; De Giorgis, Valentina V
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Orphanet Journal Of Rare Diseases
Mastrogiorgio, Gerarda G; Macchiaiolo, Marina M; Buonuomo, Paola Sabrina PS; Bellacchio, Emanuele E; Bordi, Matteo M; Vecchio, Davide D; Brown, Kari Payne KP; Watson, Natalie Karen NK; Contardi, Benedetta B; Cecconi, Francesco F; Tartaglia, Marco M; Bartuli, Andrea A
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
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.
Nature Communications
Zurlo, Giada G; Liu, Xijuan X; Takada, Mamoru M; Fan, Cheng C; Simon, Jeremy M JM; Ptacek, Travis S TS; Rodriguez, Javier J; von Kriegsheim, Alex A; Liu, Juan J; Locasale, Jason W JW; Robinson, Adam A; Zhang, Jing J; Holler, Jessica M JM; Kim, Baek B; Zikánová, Marie M; Bierau, Jörgen J; Xie, Ling L; Chen, Xian X; Li, Mingjie M; Perou, Charles M CM; Zhang, Qing Q
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: ADSL: 1277G>A; Arg426His; rs119450941
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09
Variant appearance in text: ADSL: 1277G>A; Arg426His
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers In Neurology
Demos, Michelle M; Guella, Ilaria I; DeGuzman, Conrado C; McKenzie, Marna B MB; Buerki, Sarah E SE; Evans, Daniel M DM; Toyota, Eric B EB; Boelman, Cyrus C; Huh, Linda L LL; Datta, Anita A; Michoulas, Aspasia A; Selby, Kathryn K; Bjornson, Bruce H BH; Horvath, Gabriella G; Lopez-Rangel, Elena E; van Karnebeek, Clara D M CDM; Salvarinova, Ramona R; Slade, Erin E; Eydoux, Patrice P; Adam, Shelin S; Van Allen, Margot I MI; Nelson, Tanya N TN; Bolbocean, Corneliu C; Connolly, Mary B MB; Farrer, Matthew J MJ
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: ADSL: R426H; rs119450941
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: ADSL: R426H; rs119450941
Cryptococcus neoformans ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.
The Journal Of Biological Chemistry
Chitty, Jessica L JL; Blake, Kirsten L KL; Blundell, Ross D RD; Koh, Y Q Andre E YQAE; Thompson, Merinda M; Robertson, Avril A B AAB; Butler, Mark S MS; Cooper, Matthew A MA; Kappler, Ulrike U; Williams, Simon J SJ; Kobe, Bostjan B; Fraser, James A JA
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Molecular Genetics And Metabolism Reports
Donti, Taraka R TR; Cappuccio, Gerarda G; Hubert, Leroy L; Neira, Juanita J; Atwal, Paldeep S PS; Miller, Marcus J MJ; Cardon, Aaron L AL; Sutton, V Reid VR; Porter, Brenda E BE; Baumer, Fiona M FM; Wangler, Michael F MF; Sun, Qin Q; Emrick, Lisa T LT; Elsea, Sarah H SH
Publication Date: 2016-09
Variant appearance in text: ADSL: 1277G>A; Arg426His
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.
Genome Research
Santoni, Federico A FA; Makrythanasis, Periklis P; Nikolaev, Sergey S; Guipponi, Michel M; Robyr, Daniel D; Bottani, Armand A; Antonarakis, Stylianos E SE
The mutational landscape of lethal castration-resistant prostate cancer.
Nature
Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
American Journal Of Human Genetics
Marie, S S; Race, V V; Nassogne, M-C MC; Vincent, M-F MF; Van den Berghe, G G