Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Jama Neurology
Khoshkhoo, Sattar S; Wang, Yilan Y; Chahine, Yasmine Y; Erson-Omay, E Zeynep EZ; Robert, Stephanie M SM; Kiziltug, Emre E; Damisah, Eyiyemisi C EC; Nelson-Williams, Carol C; Zhu, Guangya G; Kong, Wenna W; Huang, August Yue AY; Stronge, Edward E; Phillips, H Westley HW; Chhouk, Brian H BH; Bizzotto, Sara S; Chen, Ming Hui MH; Adikari, Thiuni N TN; Ye, Zimeng Z; Witkowski, Tom T; Lai, Dulcie D; Lee, Nadine N; Lokan, Julie J; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Haider, Shozeb S; Hildebrand, Michael S MS; Yang, Edward E; Gunel, Murat M; Lifton, Richard P RP; Richardson, R Mark RM; Blümcke, Ingmar I; Alexandrescu, Sanda S; Huttner, Anita A; Heinzen, Erin L EL; Zhu, Jidong J; Poduri, Annapurna A; DeLanerolle, Nihal N; Spencer, Dennis D DD; Lee, Eunjung Alice EA; Walsh, Christopher A CA; Kahle, Kristopher T KT
Publication Date: 2023-05-01
Variant appearance in text: NF1: 499_502del; C167fs
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Publication Date: 2022-12-30
Variant appearance in text: NF1: 499_502delTGTT; C167Qfs*10
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: NF1: 499_502del; Cys167Glnfs*10
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: NF1: 499_502del; Cys167Glnfs*10
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.