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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
The Challenge of Examining Social Determinants of Health in People Living With Tourette Syndrome Dy-Hollins, Marisela E.; Carr, Samuel J.; Essa, Angela; Osiecki, Lisa; Lackland, Daniel T.; Voeks, Jenifer H.; Mejia, Nicte I.; Sharma, Nutan; Budman, Cathy L.; Cath, Danielle C.; Grados, Marco A.; King, Robert A.; Lyon, Gholson J.; Rouleau, Guy A.; Sandor, Paul; Singer, Harvey S.; Chibnik, Lori B.; Mathews, Carol A.; Scharf, Jeremiah M. Share Save
Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells Belbachir, Nadjet; Wu, Yiyang; Shen, Mengcheng; Zhang, Sophia L.; Zhang, Joe Z.; Liu, Chun; Knollmann, Bjorn C.; Lyon, Gholson J.; Ma, Ning; Wu, Joseph C. Share Save
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Dingemans, Alexander J. M.; Hinne, Max; Truijen, Kim M. G.; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J.; den Hoed, Joery; de Boer, Elke; van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W.; Jonis, Noraly; Ockeloen, Charlotte W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Campeau, Philippe M.; Palmer, Elizabeth E.; Van Esch, Hilde; Lyon, Gholson J.; Alkuraya, Fowzan S.; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. 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
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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
Is Persistent Motor or Vocal Tic Disorder a Milder Form of Tourette Syndrome? Claudio-Campos, Karla; Stevens, Daniel; Koo, Sang-Wahn; Valko, Alexa; Bienvenu, Oscar Joseph; Budman, Cathy B.; Cath, Danielle C.; Darrow, Sabrina; Geller, Daniel; Goes, Fernando S.; Grados, Marco A.; Greenberg, Benjamin D.; Greenberg, Erica; Hirschtritt, Matthew E.; Illmann, Cornelia; Ivankovic, Franjo; King, Robert A.; Knowles, James A.; Krasnow, Janice; Lee, Paul C.; Lyon, Gholson J.; McCracken, James T.; Robertson, Mary M.; Osiecki, Lisa; Riddle, Mark A.; Rouleau, Guy; Sandor, Paul; Nestadt, Gerald; Samuels, Jack; Scharf, Jeremiah M.; Mathews, Carol A. Share Save
Synaptic processes and immune-related pathways implicated in Tourette syndrome Tsetsos, Fotis; Yu, Dongmei; Sul, Jae Hoon; Huang, Alden Y.; Illmann, Cornelia; Osiecki, Lisa; Darrow, Sabrina M.; Hirschtritt, Matthew E.; Greenberg, Erica; Muller-Vahl, Kirsten R.; Stuhrmann, Manfred; Dion, Yves; Rouleau, Guy A.; Aschauer, Harald; Stamenkovic, Mara; Schloegelhofer, Monika; Sandor, Paul; Barr, Cathy L.; Grados, Marco A.; Singer, Harvey S.; Noethen, Markus M.; Hebebrand, Johannes; Hinney, Anke; King, Robert A.; Fernandez, Thomas V.; Barta, Csaba; Tarnok, Zsanett; Nagy, Peter; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Budman, Cathy L.; Rizzo, Renata; Lyon, Gholson J.; McMahon, William M.; Batterson, James R.; Cath, Danielle C.; Malaty, Irene A.; Okun, Michael S.; Berlin, Cheston; Woods, Douglas W.; Lee, Paul C.; Jankovic, Joseph; Robertson, Mary M.; Gilbert, Donald L.; Brown, Lawrence W.; Coffey, Barbara J.; Dietrich, Andrea; Hoekstra, Pieter J.; Kuperman, Samuel; Zinner, Samuel H.; Wagner, Michael; Knowles, James A.; Willsey, A. Jeremy; Tischfield, Jay A.; Heiman, Gary A.; Cox, Nancy J.; Freimer, Nelson B.; Neale, Benjamin M.; Davis, Lea K.; Coppola, Giovanni; Mathews, Carol A.; Scharf, Jeremiah M.; Paschou, Peristera; Kurlan, Roger; Leckman, James F.; Smit, Jan H.; Konstantinidis, Anastasios; Wolanczyk, Tomasz; Brown, Lawrence; Cheon, Keun-Ah; Garcia-Delgar, Blanca; Grice, Dorothy E.; Hagstrom, Julie; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Kim, Young Key; Kim, Young-Shin; Koh, Yun-Joo; Kook, Sodahm; Leventhal, Bennett L.; Madruga-Garrido, Marcos; Mir, Pablo; Morer, Astrid; Muenchau, Alexander; Plessen, Kerstin J.; Roessner, Veit; Shin, Eun-Young; Song, Dong-Ho; Song, Jungeun Share Save
Congenital Heart Defects Due to TAF1 Missense Variants Morton, Sarah U.; Agarwal, Radhika; Madden, Jill A.; Genetti, Casie A.; Brownstein, Catherine A.; Lopez-Giraldez, Francesc; Choi, Jungmin; Seidman, Christine E.; Seidman, Jonathan G.; Lyon, Gholson J.; Agrawal, Pankaj B. Share Save
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases Zhao, Mengge; Havrilla, James M.; Fang, Li; Chen, Ying; Peng, Jacqueline; Liu, Cong; Wu, Chao; Sarmady, Mahdi; Botas, Pablo; Isla, Julian; Lyon, Gholson J.; Weng, Chunhua; Wang, Kai Share Save
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
PEDIA: prioritization of exome data by image analysis Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. Share Save
Paralog Studies Augment Gene Discovery: DDX and DHX Genes Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Akdemir, Zeynep Coban; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K. Y.; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, Rene; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J.; Wilichowski, Ekkehard; Wortmann, Saskia B.; Casella, Erasmo B.; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M.; Bamshad, Michael; Gibbs, Richard A.; Sutton, V. Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B.; Glass, Ian; Lessel, Davor; Lyon, Gholson J.; Lupski, James R. Share Save
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