Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Jama Neurology
McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M
Publication Date: 2022-10-31
Variant appearance in text: PRRT2: 649dup; Arg217Profs
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Medicine
Yuan, Bo B; Schulze, Katharina V KV; Assia Batzir, Nurit N; Sinson, Jefferson J; Dai, Hongzheng H; Zhu, Wenmiao W; Bocanegra, Francia F; Fong, Chin-To CT; Holder, Jimmy J; Nguyen, Joanne J; Schaaf, Christian P CP; Yang, Yaping Y; Bi, Weimin W; Eng, Christine C; Shaw, Chad C; Lupski, James R JR; Liu, Pengfei P
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Frontiers In Neurology
Mastrangelo, Mario M; Galosi, Serena S; Cesario, Serena S; Renzi, Alessia A; Campea, Lucilla L; Leuzzi, Vincenzo V
Successful Treatment of a Paroxysmal Kinesigenic Dyskinesia Patient with Carbamazepine-Induced Stevens-Johnson Syndrome Using Oxcarbazepine Monotherapy: A Case Report.
Case Reports In Neurology
Tran, Hung T HT; Nguyen, Khang V KV; Vercueil, Laurent L
Publication Date: 2021
Variant appearance in text: PRRT2: 649dupC; Arg217fs
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Brain : A Journal Of Neurology
Symonds, Joseph D JD; Elliott, Katherine S KS; Shetty, Jay J; Armstrong, Martin M; Brunklaus, Andreas A; Cutcutache, Ioana I; Diver, Louise A LA; Dorris, Liam L; Gardiner, Sarah S; Jollands, Alice A; Joss, Shelagh S; Kirkpatrick, Martin M; McLellan, Ailsa A; MacLeod, Stewart S; O'Regan, Mary M; Page, Matthew M; Pilley, Elizabeth E; Pilz, Daniela T DT; Stephen, Elma E; Stewart, Kirsty K; Ashrafian, Houman H; Knight, Julian C JC; Zuberi, Sameer M SM
Publication Date: 2021-10-22
Variant appearance in text: PRRT2: 649dup; Arg217Profs*8
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Frontiers In Neurology
Kegele, Josua J; Krüger, Johanna J; Koko, Mahmoud M; Lange, Lara L; Marco Hernandez, Ana Victoria AV; Martinez, Francisco F; Münchau, Alexander A; Lerche, Holger H; Lauxmann, Stephan S
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
The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.
Frontiers In Pediatrics
Luo, Han-Yu HY; Xie, Ling-Ling LL; Hong, Si-Qi SQ; Li, Xiu-Juan XJ; Li, Mei M; Hu, Yue Y; Ma, Jian-Nan JN; Wu, Peng P; Zhong, Min M; Cheng, Min M; Li, Ting-Song TS; Jiang, Li L
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
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines
Döring, Jan Henje JH; Saffari, Afshin A; Bast, Thomas T; Brockmann, Knut K; Ehrhardt, Laura L; Fazeli, Walid W; Janzarik, Wibke G WG; Kluger, Gerhard G; Muhle, Hiltrud H; Møller, Rikke S RS; Platzer, Konrad K; Santos, Joana Larupa JL; Bache, Iben I; Bertsche, Astrid A; Bonfert, Michaela M; Borggräfe, Ingo I; Broser, Philip J PJ; Datta, Alexandre N AN; Hammer, Trine Bjørg TB; Hartmann, Hans H; Hasse-Wittmer, Anette A; Henneke, Marco M; Kühne, Hermann H; Lemke, Johannes R JR; Maier, Oliver O; Matzker, Eva E; Merkenschlager, Andreas A; Opp, Joachim J; Patzer, Steffi S; Rostasy, Kevin K; Stark, Birgit B; Strzelczyk, Adam A; von Stülpnagel, Celina C; Weber, Yvonne Y; Wolff, Markus M; Zirn, Birgit B; Hoffmann, Georg Friedrich GF; Kölker, Stefan S; Syrbe, Steffen S
Publication Date: 2020-10-28
Variant appearance in text: PRRT2: 649dupC; Arg217Profs*8
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Cells
Sutherland, Heidi G HG; Maksemous, Neven N; Albury, Cassie L CL; Ibrahim, Omar O; Smith, Robert A RA; Lea, Rod A RA; Haupt, Larisa M LM; Jenkins, Bronwyn B; Tsang, Benjamin B; Griffiths, Lyn R LR