Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

por Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Publicado en Mol Cytogenet (2021)

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

por Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Publicado en Am J Hum Genet (2016)

LINE-and Alu-containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

por Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardonofsky, Felix R., Henderson, Cody, Powers, George, Poisson, Virginie, Bérubé, Denis, Oligny, Luc, Michaud, Jacques L., Janssens, Sandra, De Coen, Kris, Van Dorpe, Jo, Dheedene, Annelies, Harting, Matthew T., Weaver, Matthew D., Khan, Amir M., Tatevian, Nina, Wambach, Jennifer, Gibbs, Kathleen A., Popek, Edwina, Gambin, Anna, Stankiewicz, Paweł
Publicado en Hum Mutat (2018)

Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

por Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.
Publicado en Hum Mutat (2019)

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

por Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick, Ian Andrews, P, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L
Publicado en Ann Neurol (2021)

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

por Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Publicado en Am J Hum Genet (2017)

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith...

por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
Publicado en Genome Med (2019)

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila...

por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
Publicado en Genome Med (2019)

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por 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, Lüdecke, 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., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado en Am J Hum Genet (2018)