Not logged in Sequencing-Based Detection of Avian Influenza A(H5N1) Virus in Wastewater in Ten Cities Tisza, Michael J.; Hanson, Blake M.; Clark, Justin R.; Wang, Li; Payne, Katelyn; Ross, Matthew C.; Mena, Kristina D.; Gitter, Anna; Cregeen, Sara J. Javornik; Cormier, Juwan; Avadhanula, Vasanthi; Terwilliger, Austen; Balliew, John; Wu, Fuqing; Rios, Janelle; Deegan, Jennifer; Piedra, Pedro A.; Petrosino, Joseph F.; Boerwinkle, Eric; Maresso, Anthony W. Share Save
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Wastewater sequencing reveals community and variant dynamics of the collective human virome Tisza, Michael; Javornik Cregeen, Sara; Avadhanula, Vasanthi; Zhang, Ping; Ayvaz, Tulin; Feliz, Karen; Hoffman, Kristi L.; Clark, Justin R.; Terwilliger, Austen; Ross, Matthew C.; Cormier, Juwan; Moreno, Hannah; Wang, Li; Payne, Katelyn; Henke, David; Troisi, Catherine; Wu, Fuqing; Rios, Janelle; Deegan, Jennifer; Hansen, Blake; Balliew, John; Gitter, Anna; Zhang, Kehe; Li, Runze; Bauer, Cici X.; Mena, Kristina D.; Piedra, Pedro A.; Petrosino, Joseph F.; Boerwinkle, Eric; Maresso, Anthony W. Share Save
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W. 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
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Genevieve, David; Simon, Marleen E. H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C. H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J. Share Save
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations Hughes, Joel J.; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C.; Grange, Dorothy K.; Berger, Seth I.; Payne, Katelyn K.; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R.; Clegg, Nancy J.; Everson, Joshua L.; Martinez, Ariel F.; Walsh, Laurence E.; Bedoukian, Emma; Jones, Marilyn C.; Harris, Catharine Jean; Riedhammer, Korbinian M.; Choukair, Daniela; Fechner, Patricia Y.; Rutter, Meilan M.; Hufnagel, Sophia B.; Roifman, Maian; Kletter, Gad B.; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J.; Vezina, Chad M.; Muenke, Maximilian; Chitayat, David Share Save
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J. Share Save
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B.; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A.; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Groppa, Stanislav; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Perez-Duenas, Belen; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; Garcia-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Rothman, James; Kullmann, Dimitri; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Minetti, Carlo; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa; Pipis, Menelaos; Bettencourt, Conceicao; Rinaldi, Simon; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S.; Edvardson, Simon; Nolano, Maria; Devaux, Jerome; Houlden, Henry Share Save
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Torti, Erin; Keren, Boris; Palmer, Elizabeth E.; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J.; Andrews, Marisa, V; Atkinson, Celia; Au, Margaret; Berry, Susan A.; Bowling, Kevin M.; Boyle, Jackie; Buratti, Julien; Cathey, Sara S.; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F.; Finley, Sabra Ledare; Graham, John M., Jr.; Grange, Dorothy K.; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M.; Hibbs, Kathleen A.; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R.; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G. Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A.; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G.; Person, Richard E.; Willaert, Rebecca; Solomon, Benjamin D.; Juusola, Jane Share Save
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M.; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J.; Buettner, Benjamin; Cho, Megan T.; Cooper, Gregory M.; Doering, Jan H.; Dubourg, Christele; Everman, David B.; Hildebrand, Michael S.; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R.; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quelin, Chloe; Schnur, Rhonda E.; Smith, Brooke T.; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K. C.; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C.; Orosco, Lori; Martinez-Cerdeno, Veronica; Silverman, Jill L.; Crawley, Jacqueline N.; Scherer, Stephen W.; Zarbalis, Konstantinos S.; Jamra, Rami Share Save
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Reijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M. Share Save
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes Martinelli, Simone; Krumbach, Oliver H. F.; Pantaleoni, Francesca; Coppola, Simona; Amin, Ehsan; Pannone, Luca; Nouri, Kazem; Farina, Luciapia; Dvorsky, Radovan; Lepri, Francesca; Buchholzer, Marcel; Konopatzki, Raphael; Walsh, Laurence; Payne, Katelyn; Pierpont, Mary Ella; Vergano, Samantha Schrier; Langley, Katherine G.; Larsen, Douglas; Farwell, Kelly D.; Tang, Sha; Mroske, Cameron; Gallotta, Ivan; Di Schiavi, Elia; Della Monica, Matteo; Lugli, Licia; Rossi, Cesare; Seri, Marco; Cocchi, Guido; Henderson, Lindsay; Baskin, Berivan; Alders, Marielle; Mendoza-Londono, Roberto; Dupuis, Lucie; Nickerson, Deborah A.; Chong, Jessica X.; Meeks, Naomi; Brown, Kathleen; Causey, Tahnee; Cho, Megan T.; Demuth, Stephanie; Digilio, Maria Cristina; Gelb, Bruce D.; Bamshad, Michael J.; Zenker, Martin; Ahmadian, Mohammad Reza; Hennekam, Raoul C.; Tartaglia, Marco; Mirzaa, Ghayda M. Share Save
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood Edvardson, Simon; Nicolae, Claudia M.; Agrawal, Pankaj B.; Mignot, Cyril; Payne, Katelyn; Prasad, Asuri Narayan; Prasad, Chitra; Sadler, Laurie; Nava, Caroline; Mullen, Thomas E.; Begtrup, Amber; Baskin, Berivan; Powis, Zoe; Shaag, Avraham; Keren, Boris; Moldovan, George-Lucian; Elpeleg, Orly Share Save
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations (vol 18, pg 1143, 2016) Chen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, Christian Share Save
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features Skraban, Cara M.; Wells, Constance F.; Markose, Preetha; Cho, Megan T.; Nesbitt, Addie I.; Au, P. Y. Billie; Begtrup, Amber; Bernat, John A.; Bird, Lynne M.; Cao, Kajia; de Brouwer, Arjan P. M.; Denenberg, Elizabeth H.; Douglas, Ganka; Gibson, Kristin M.; Grand, Katheryn; Goldenberg, Alice; Innes, A. Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M.; Owens, Martina M.; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L. S.; Verbeek, Nienke E.; Walsh, Laurence E.; Warner, Taylor C.; Wheeler, Patricia G.; Wieczorek, Dagmar; Wilkens, Alisha B.; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P.; Santani, Avni; van Gassen, Koen L. I.; Deardorff, Matthew A. Share Save
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations Chen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Milian, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, Christian Share Save
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