Not logged in Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial Kingsmore, Stephen F.; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M.; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R.; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S.; Sanford, Erica; Smith, Laurie D.; Willis, Mary J.; Wigby, Kristen; Reimers, Rebecca Share Save
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection Kingsmore, Stephen F.; Wright, Meredith; Smith, Laurie D.; Liang, Yupu; Mowrey, William R.; Protopsaltis, Liana; Bainbridge, Matthew; Baker, Mei; Batalov, Sergey; Blincow, Eric; Cao, Bryant; Caylor, Sara; Chambers, Christina; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Kiel, Mark; van der Kraan, Lucita; Krilow, Chad; Kwon, Hugh; Madhavrao, Lakshminarasimha; Lefebvre, Sebastien; Leipzig, Jeremy; Mardach, Rebecca; Moore, Barry; Oh, Danny; Olsen, Lauren; Ontiveros, Eric; Owen, Mallory J.; Reimers, Rebecca; Scharer, Gunter; Schleit, Jennifer; Shelnutt, Seth; Mehtalia, Shyamal S.; Oriol, Albert; Sanford, Erica; Schwartz, Steve; Wigby, Kristen; Willis, Mary J.; Yandell, Mark; Kunard, Chris M.; Defay, Thomas Share Save
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Response to Grosse et al. Kingsmore, Stephen F.; Smith, Laurie D.; Kunard, Chris M.; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P.; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C.; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Hobbs, Charlotte A.; Kahn, Scott D.; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H.; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R.; Oh, Danny; Owen, Mallory J.; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S.; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G.; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J.; Wolen, Aaron R.; Defay, Thomas Share Save
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Kingsmore, Stephen F.; Smith, Laurie D.; Kunard, Chris M.; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P.; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C.; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Hobbs, Charlotte A.; Kahn, Scott D.; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H.; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R.; Oh, Danny; Owen, Mallory J.; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S.; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G.; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J.; Wolen, Aaron R.; Defay, Thomas Share Save
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases Owen, Mallory J.; Lefebvre, Sebastien; Hansen, Christian; Kunard, Chris M.; Dimmock, David P.; Smith, Laurie D.; Scharer, Gunter; Mardach, Rebecca; Willis, Mary J.; Feigenbaum, Annette; Niemi, Anna-Kaisa; Ding, Yan; Van der Kraan, Luca; Ellsworth, Katarzyna; Guidugli, Lucia; Lajoie, Bryan R.; McPhail, Timothy K.; Mehtalia, Shyamal S.; Chau, Kevin K.; Kwon, Yong H.; Zhu, Zhanyang; Batalov, Sergey; Chowdhury, Shimul; Rego, Seema; Perry, James; Speziale, Mark; Nespeca, Mark; Wright, Meredith S.; Reese, Martin G.; De la Vega, Francisco M.; Azure, Joe; Frise, Erwin; Rigby, Charlene Son; White, Sandy; Hobbs, Charlotte A.; Gilmer, Sheldon; Knight, Gail; Oriol, Albert; Lenberg, Jerica; Nahas, Shareef A.; Perofsky, Kate; Kim, Kyu; Carroll, Jeanne; Coufal, Nicole G.; Sanford, Erica; Wigby, Kristen; Weir, Jacqueline; Thomson, Vicki S.; Fraser, Louise; Lazare, Seka S.; Shin, Yoon H.; Grunenwald, Haiying; Lee, Richard; Jones, David; Tran, Duke; Gross, Andrew; Daigle, Patrick; Case, Anne; Lue, Marisa; Richardson, James A.; Reynders, John; Defay, Thomas; Hall, Kevin P.; Veeraraghavan, Narayanan; Kingsmore, Stephen F. Share Save
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders Di Donato, Nataliya; Guerrini, Renzo; Billington, Charles J., Jr.; Barkovich, A. James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S.; Gertler, Tracy S.; Hopkin, Robert J.; Jacob, Suma; Keedy, Sarah K.; Kooshavar, Daniz; Lockhart, Paul J.; Lohmann, Dietmar R.; Mahmoud, Iman G.; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E.; Webster, Richard, I; Willis, Mary J. H.; Zaki, Maha S.; Gleeson, Joseph G.; Leventer, Richard J.; Dobyns, William B. Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Genome-to-treatment: A system to guide the acute management of genetic disorders in children Willis, Mary; Owen, Mallory; Lefebvre, Sebastien; Hanson, Christian; Dimmock, David; Scharer, Gunter; Mardach, Rebecca; Feigenbaum, Annette; Smith, Laurie; Kingsmore, Stephen Share Save
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (vol 144, pg 1422, 2021) Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair T.; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozguer; Dundar, Nihal Olgac; Uyanik, Goekhan; Schoels, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Catala-Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuechner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan Share Save
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan Share Save
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability Van Bergen, Nicole J.; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J. H.; Akdemir, Zeynep H. Coban; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V.; Jhangiani, Shalini N.; Fatih, Jawid M.; Rosenfeld, Jill A.; Posey, Jennifer E.; Gibbs, Richard A.; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G.; Sleiman, Patrick; Troedson, Chris; Lupski, James R.; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John Share Save
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H. Share Save
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Pant, Devesh C.; Dorboz, Imen; Schluter, Agatha; Fourcade, Stephane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Eugenia Yoldi, Maria; Casasnovas, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothee; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Caries; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto E Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamreza; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug-Tanguy, Odile; Pujol, Aurora Share Save
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Arboleda, Valerie A.; Lee, Hane; Dorrani, Naghmeh; Zadeh, Neda; Willis, Mary; Macmurdo, Colleen Forsyth; Manning, Melanie A.; Kwan, Andrea; Hudgins, Louanne; Barthelemy, Florian; Miceli, M. Carrie; Quintero-Rivera, Fabiola; Kantarci, Sibel; Strom, Samuel P.; Deignan, Joshua L.; Grody, Wayne W.; Vilain, Eric; Nelson, Stanley F. Share Save
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly Bear, Kelly A.; Solomon, Benjamin D.; Antonini, Sonir; Arnhold, Ivo J. P.; Franca, Marcela M.; Gerkes, Erica H.; Grange, Dorothy K.; Hadley, Donald W.; Jaaskelainen, Jarmo; Paulo, Sabrina S.; Rump, Patrick; Stratakis, Constantine A.; Thompson, Elizabeth M.; Willis, Mary; Winder, Thomas L.; Jorge, Alexander A. L.; Roessler, Erich; Muenke, Maximilian Share Save
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