DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Vig, Anjali, Poulter, James A, Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T, Wheway, Gabrielle, Arno, Gavin, Khan, Kamron N, McKibbin, Martin, Toomes, Carmel, Ali, Manir, Di Scipio, Matteo, Li, Shuning, Ellingford, Jamie, Black, Graeme, Webster, Andrew, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Vincent, Ajoy, Cheetham, Michael E, Inglehearn, Chris F, Roberts, Anthony, Heon, Elise
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Parry, David A, Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A, Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J, Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Jamra, Rami Abu, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Hanna, Michael, Koenig, Michel, Vandrovcova, Jana, Houlden, Henry, Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Daugherty, L.C., Devereau, A., Foulger, R.E., Fowler, T., Furió-Tarí, P., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Stevens, H.E., Stuckey, A., Sultana, R., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Lam, Tanya, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Bartels, Claudius, Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Tucci, A., Watters, S.A., Welland, M.J., Williams, E., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Owen, Nicholas, Toms, Maria, Young, Rodrigo M., Eintracht, Jonathan, Sarkar, Hajrah, Brooks, Brian P., Moosajee, Mariya, Ambrose, J.C., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de, Burca A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Jackson, R., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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