Lane, William J WJ; Aeschlimann, Judith J; Vege, Sunitha S; Lomas-Francis, Christine C; Burgos, Anna A; Mah, Helen H HH; Halls, Justin B L JBL; Baeck, Peter P; Ligthart, Peter C PC; Veldhuisen, Barbera B; Shah, Ripal J RJ; Joshi, Sanmukh R SR; Westhoff, Connie M CM
Publication Date: 2021-09-17
Variant appearance in text: PIGG: 1515G>A; rs150259543
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.
Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Genes
Arteche-López, Ana A; Gómez Rodríguez, Maria José MJ; Sánchez Calvin, Maria Teresa MT; Quesada-Espinosa, Juan Francisco JF; Lezana Rosales, Jose Miguel JM; Palma Milla, Carmen C; Gómez-Manjón, Irene I; Hidalgo Mayoral, Irene I; Pérez de la Fuente, Rubén R; Díaz de Bustamante, Arancha A; Darnaude, María Teresa MT; Gil-Fournier, Belén B; Ramiro León, Soraya S; Ramos Gómez, Patricia P; Sierra Tomillo, Olalla O; Juárez Rufián, Alexandra A; Arranz Cano, Maria Isabel MI; Villares Alonso, Rebeca R; Morales-Pérez, Pablo P; Segura-Tudela, Alejandro A; Camacho, Ana A; Nuñez, Noemí N; Simón, Rogelio R; Moreno-García, Marta M; Alvarez-Mora, Maria Isabel MI
Publication Date: 2021-04-12
Variant appearance in text: PIGG: 1515G>A; Trp505*
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: PIGG: 1515G>A; Trp505Ter
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: PIGG: 1515G>A; Trp505*
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: PIGG: 1515G>A; Trp505*
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
American Journal Of Human Genetics
Makrythanasis, Periklis P; Kato, Mitsuhiro M; Zaki, Maha S MS; Saitsu, Hirotomo H; Nakamura, Kazuyuki K; Santoni, Federico A FA; Miyatake, Satoko S; Nakashima, Mitsuko M; Issa, Mahmoud Y MY; Guipponi, Michel M; Letourneau, Audrey A; Logan, Clare V CV; Roberts, Nicola N; Parry, David A DA; Johnson, Colin A CA; Matsumoto, Naomichi N; Hamamy, Hanan H; Sheridan, Eamonn E; Kinoshita, Taroh T; Antonarakis, Stylianos E SE; Murakami, Yoshiko Y
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