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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome Lyon, Gholson J.; Vedaie, Marall; Beisheim, Travis; Park, Agnes; Marchi, Elaine; Gottlieb, Leah; Hsieh, Tzung-Chien; Klinkhammer, Hannah; Sandomirsky, Katherine; Cheng, Hanyin; Starr, Lois J.; Preddy, Isabelle; Tseng, Marcellus; Li, Quan; Hu, Yu; Wang, Kai; Carvalho, Ana; Martinez, Francisco; Caro-Llopis, Alfonso; Gavin, Maureen; Amble, Karen; Krawitz, Peter; Marmorstein, Ronen; Herr-Israel, Ellen Share Save
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients Guo, Lily; Park, Jiyeon; Yi, Edward; Marchi, Elaine; Hsieh, Tzung-Chien; Kibalnyk, Yana; Moreno-Saez, Yolanda; Biskup, Saskia; Puk, Oliver; Beger, Carmela; Li, Quan; Wang, Kai; Voronova, Anastassia; Krawitz, Peter M.; Lyon, Gholson J. Share Save
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Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway Kweon, Hyae Yon; Lee, Mi-Ni; Dorfel, Max; Seo, Seungwoon; Gottlieb, Leah; PaPazyan, Thomas; McTiernan, Nina; Ree, Rasmus; Bolton, David; Garcia, Andrew; Flory, Michael; Crain, Jonathan; Sebold, Alison; Lyons, Scott; Ismail, Ahmed; Marchi, Elaine; Sonn, Seong-Keun; Jeong, Se-Jin; Jeon, Sejin; Ju, Shinyeong; Conway, Simon J.; Kim, Taesoo; Kim, Hyun-Seok; Lee, Cheolju; Roh, Tae-Young; Arnesen, Thomas; Marmorstein, Ronen; Oh, Goo Taeg; Lyon, Gholson J. Share Save
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 (vol 28, pg 2900, 2019) Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F.; Rosenheck, Sarah; Moutton, Sebastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S.; Toribio, Janet; Mena, Rafael; Prada, Carlos E.; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R. Frank; Baralle, Diana; Mancini, Grazia M. S.; Conway, Simon J.; Xia, Fan; Chen, Zhao; Meng, Linyan; Mihajlovic, Ljubisa; Marmorstein, Ronen; Lyon, Gholson J. 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
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F.; Rosenheck, Sarah; Moutton, Sebastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S.; Toribio, Janet; Mena, Rafael; Prada, Carlos E.; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R. Frank; Baralle, Diana; Mancini, Grazia M. S.; Conway, Simon J.; Xia, Fan; Chen, Zhao; Meng, Linyan; Mihajlovic, Ljubisa; Marmorstein, Ronen; Lyon, Gholson J. Share Save
Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents Quadros, Edward V.; Sequeira, Jeffrey M.; Brown, W. Ted; Mevs, Clifford; Marchi, Elaine; Flory, Michael; Jenkins, Edmund C.; Velinov, Milen T.; Cohen, Ira L. Share Save
Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism Wegiel, Jerzy; Schanen, N. Carolyn; Cook, Edwin H.; Sigman, Marian; Brown, W. Ted; Kuchna, Izabela; Nowicki, Krzysztof; Wegiel, Jarek; Imaki, Humi; Ma, Shuang Yong; Marchi, Elaine; Wierzba-Bobrowicz, Teresa; Chauhan, Abha; Chauhan, Ved; Cohen, Ira L.; London, Eric; Flory, Michael; Lach, Boleslaw; Wisniewski, Thomas Share Save
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes Wegiel, Jerzy; Kuchna, Izabela; Nowicki, Krzysztof; Imaki, Humi; Wegiel, Jarek; Marchi, Elaine; Ma, Shuang Yong; Chauhan, Abha; Chauhan, Ved; Wierzba Bobrowicz, Teresa; de Leon, Mony; Saint Louis, Leslie A.; Cohen, Ira L.; London, Eric; Brown, W. Ted; Wisniewski, Thomas Share Save
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