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: SLC26A2: 835C>T; Arg279Trp
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Iscience
Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E
Publication Date: 2023-02-17
Variant appearance in text: SLC26A2: R279W; rs104893915
Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31
Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Genes
Rosina, Erica E; Pezzani, Lidia L; Pezzoli, Laura L; Marchetti, Daniela D; Bellini, Matteo M; Pilotta, Alba A; Calabrese, Olga O; Nicastro, Emanuele E; Cirillo, Francesco F; Cereda, Anna A; Scatigno, Agnese A; Milani, Donatella D; Iascone, Maria M
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Genome Medicine
De La Vega, Francisco M FM; Chowdhury, Shimul S; Moore, Barry B; Frise, Erwin E; McCarthy, Jeanette J; Hernandez, Edgar Javier EJ; Wong, Terence T; James, Kiely K; Guidugli, Lucia L; Agrawal, Pankaj B PB; Genetti, Casie A CA; Brownstein, Catherine A CA; Beggs, Alan H AH; Löscher, Britt-Sabina BS; Franke, Andre A; Boone, Braden B; Levy, Shawn E SE; Õunap, Katrin K; Pajusalu, Sander S; Huentelman, Matt M; Ramsey, Keri K; Naymik, Marcus M; Narayanan, Vinodh V; Veeraraghavan, Narayanan N; Billings, Paul P; Reese, Martin G MG; Yandell, Mark M; Kingsmore, Stephen F SF
Publication Date: 2021-10-14
Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sallevelt, Suzanne C E H SCEH; Stegmann, Alexander P A APA; de Koning, Bart B; Velter, Crool C; Steyls, Anja A; van Esch, Melanie M; Lakeman, Phillis P; Yntema, Helger H; Esteki, Masoud Zamani MZ; de Die-Smulders, Christine E M CEM; Gilissen, Christian C; van den Wijngaard, Arthur A; Brunner, Han G HG; Paulussen, Aimée D C ADC
Publication Date: 2021-06
Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
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: SLC26A2: 835C>T; Arg279Trp
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenatal Diagnosis
Deden, Chantal C; Neveling, Kornelia K; Zafeiropopoulou, Dimitra D; Gilissen, Christian C; Pfundt, Rolph R; Rinne, Tuula T; de Leeuw, Nicole N; Faas, Brigitte B; Gardeitchik, Thatjana T; Sallevelt, Suzanne C E H SCEH; Paulussen, Aimee A; Stevens, Servi J C SJC; Sikkel, Esther E; Elting, Mariet W MW; van Maarle, Merel C MC; Diderich, Karin E M KEM; Corsten-Janssen, Nicole N; Lichtenbelt, Klaske D KD; Lachmeijer, Guus G; Vissers, Lisenka E L M LELM; Yntema, Helger G HG; Nelen, Marcel M; Feenstra, Ilse I; van Zelst-Stams, Wendy A G WAG
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
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: SLC26A2: 835C>T; Arg279Trp; rs104893915
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Human Mutation
Jackson, Gail C GC; Mittaz-Crettol, Laureane L; Taylor, Jacqueline A JA; Mortier, Geert R GR; Spranger, Juergen J; Zabel, Bernhard B; Le Merrer, Martine M; Cormier-Daire, Valerie V; Hall, Christine M CM; Offiah, Amaka A; Wright, Michael J MJ; Savarirayan, Ravi R; Nishimura, Gen G; Ramsden, Simon C SC; Elles, Rob R; Bonafe, Luisa L; Superti-Furga, Andrea A; Unger, Sheila S; Zankl, Andreas A; Briggs, Michael D MD
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Journal Of Korean Medical Science
Cho, Tae-Joon TJ; Kim, Ok-Hwa OH; Lee, Hye-Ran HR; Shin, Sung Jin SJ; Yoo, Won Joon WJ; Park, Woong Yang WY; Park, Sung Sup SS; Cho, Sung Im SI; Choi, In Ho IH
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
Bmc Musculoskeletal Disorders
Hinrichs, Timo T; Superti-Furga, Andrea A; Scheiderer, Wolf-Dieter WD; Bonafé, Luisa L; Brenner, Rolf E RE; Mattes, Thomas T
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
American Journal Of Human Genetics
Czarny-Ratajczak, M M; Lohiniva, J J; Rogala, P P; Kozlowski, K K; Perälä, M M; Carter, L L; Spector, T D TD; Kolodziej, L L; Seppänen, U U; Glazar, R R; Królewski, J J; Latos-Bielenska, A A; Ala-Kokko, L L