Not logged in Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review VanSickle, Elizabeth A.; Sarasua, Sara M.; Lowe, Tracy; Farrell, Christopher L.; Boccuto, Luigi; Schwartz, Charles; Pegg, Anthony E.; Peron, Angela; Faundes, Victor; Ganapathi, Mythily; Chung, Wendy K.; Ziegler, Alban; Hofstede, Floris; Prouteau, Clement; Steindl, Katharina; Olson, Colleen; Devinsky, Orrin; Mastracci, Teresa L.; Casero Jr, Robert A.; Stewart, Tracy Murray; Gilmour, Susan; Koerner, Teri; Kutler, Mary Jo; Rajasekaran, Surender; Michael, Julianne; Bachmann, Andre S.; Bupp, Caleb P. Share Save
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Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing Levy, Brynn; Liu, Jie; Iqbal, M. Anwar; DuPont, Barbara; Sahajpal, Nikhil; Ho, Monique; Yu, Jingwei; Brody, Sam J.; Ganapathi, Mythily; Rajkovic, Aleksandar; Smolarek, Teresa A.; Boyar, Fatih; Bui, Peter; Dubuc, Adrian M.; Kolhe, Ravindra; Stevenson, Roger E. Share Save
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay Bosman, Willem; Butler, Kameryn M.; Chang, Caitlin A.; Ganapathi, Mythily; Guzman, Edwin; Latta, Femke; Chung, Wendy K.; Claverie-Martin, Felix; Davis, Jessica M.; Hoenderop, Joost G. J.; de Baaij, Jeroen H. F. Share Save
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J. Share Save
Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Schmidt, Ryan J.; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Ganapathi, Mythily; Garcia, John; Gollob, Michael H.; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; Mcgoldrick, Kelly; Palculict, T. Blake; Pesaran, Tina; Pollin, Toni I.; Qian, Emily; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L. P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S. Share Save
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth Share Save
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission Platzer, Konrad; Sticht, Heinrich; Bupp, Caleb; Ganapathi, Mythily; Pereira, Elaine M.; Le Guyader, Gwenael; Bilan, Frederic; Henderson, Lindsay B.; Lemke, Johannes R.; Taschenberger, Holger; Brose, Nils; Abou Jamra, Rami; Wojcik, Sonja M. Share Save
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels Riggs, Erin Rooney; Bingaman, Taylor, I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R.; Dharmadhikari, Avinash, V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R.; Hughes, Madeline Y.; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aime; Mah, Michelle; Maloney, Caitlin M.; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A.; Reble, Emma; Rennie, Olivia; Savatt, Juliann M.; Shimelis, Hermela; Siegert, Rebecca K.; Sneddon, Tam P.; Thaxton, Courtney; Toner, Kelly A.; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H.; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A. S.; Miller, David T.; Schaaf, Christian P. Share Save
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center Ganapathi, Mythily; Thomas-Wilson, Amanda; Buchovecky, Christie; Dharmadhikari, Avinash; Barua, Subit; Lee, Winston; Ruan, Merry Z. C.; Soucy, Megan; Ragi, Sara; Tanaka, Joy; Clark, Lorraine N.; Naini, Ali B.; Liao, Jun; Mansukhani, Mahesh; Tsang, Stephen; Jobanputra, Vaidehi Share Save
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Casual Genetic Variants in Stillbirth Stanley, Kate E.; Giordano, Jessica; Thorsten, Vanessa; Buchovecky, Christie; Thomas, Amanda; Ganapathi, Mythily; Liao, Jun; Dharmadhikari, Avinash V.; Revah-Politi, Anya; Ernst, Michelle; Lippa, Natalie; Holmes, Halie; Povysil, Gundula; Hostyk, Joseph; Parker, Corette B.; Goldenberg, Robert; Saade, George R.; Dudley, Donald J.; Pinar, Halit; Hogue, Carol; Reddy, Uma M.; Silver, Robert M.; Aggarwal, Vimla; Allen, Andrew S.; Wapner, Ronald J.; Goldstein, David B. Share Save
Causal Genetic Variants in Stillbirth Stanley, Kate E.; Giordano, Jessica; Thorsten, Vanessa; Buchovecky, Christie; Thomas, Amanda; Ganapathi, Mythily; Liao, Jun; Dharmadhikari, Avinash V.; Revah-Politi, Anya; Ernst, Michelle; Lippa, Natalie; Holmes, Halie; Povysil, Gundula; Hostyk, Joseph; Parker, Corette B.; Goldenberg, Robert; Saade, George R.; Dudley, Donald J.; Pinar, Halit; Hogue, Carol; Reddy, Uma M.; Silver, Robert M.; Aggarwal, Vimla; Allen, Andrew S.; Wapner, Ronald J.; Goldstein, David B. Share Save
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W.; Brilstra, Eva H.; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernandez-Jaen, Alberto; Ganapathi, Mythily; Chung, Wendy K.; Grange, Dorothy K.; Dave-Wala, Ashita; Reshmi, Shalini C.; Bartholomew, Dennis W.; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lissewski, Christina; Brinkmann, Julia; Waclaw, Ronald R.; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M.; Morrow, Michelle M.; Alvarez, Sara; Martinez-Garcia, Monica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D.; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E.; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco Share Save
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function Al-Deri, Noraldin; Okur, Volkan; Ahimaz, Priyanka; Milev, Miroslav; Valivullah, Zaheer; Hagen, Jacob; Sheng, Yufeng; Chung, Wendy; Sacher, Michael; Ganapathi, Mythily Share Save
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis Ganapathi, Mythily; Argyriou, Loukas; Martinez-Azorin, Francisco; Morlot, Susanne; Yigit, Gokhan; Lee, Teresa M.; Auber, Bernd; von Gise, Alexander; Petrey, Donald S.; Thiele, Holger; Cyganek, Lukas; Sabater-Molina, Maria; Ahimaz, Priyanka; Cabezas-Herrera, Juan; Sorli-Garcia, Moises; Zibat, Arne; Siegelin, Markus D.; Burfeind, Peter; Buchovecky, Christie M.; Hasenfuss, Gerd; Honig, Barry; Li, Yun; Iglesias, Alejandro D.; Wollnik, Bernd Share Save
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder Ganapathi, Mythily; Padgett, Leah R.; Yamada, Kentaro; Devinsky, Orrin; Willaert, Rebecca; Person, Richard; Au, Ping-Yee Billie; Tagoe, Julia; McDonald, Marie; Karlowicz, Danielle; Wolf, Barry; Lee, Joanna; Shen, Yufeng; Okur, Volkan; Deng, Liyong; LeDuc, Charles A.; Wang, Jiayao; Hanner, Ashleigh; Mirmira, Raghavendra G.; Park, Myung Hee; Mastracci, Teresa L.; Chung, Wendy K. Share Save
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