Not logged in Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies Mattioli, Francesca; Fridriksdottir, Run; Hebert, Anne; Bassani, Sissy; Ibrahim, Nazia; Naz, Shagufta; Chrast, Jacqueline; Pailler-Pradeau, Clara; Oddsson, Asmundur; Sulem, Patrick; Halldorsson, Gisli H.; Melsted, Pall; Guobjartsson, Daniel F.; Palombo, Flavia; Pippucci, Tommaso; Nouri, Nayereh; Seri, Marco; Farrow, Emily G.; Saunders, Carol J.; Guex, Nicolas; Ansar, Muhammad; Stefansson, Kari; Reymond, Alexandre Share Save
Further delineation of the SCAF4-associated neurodevelopmental disorder Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane Share Save
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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein Kretz, Perrine F.; Wagner, Christel; Mikhaleva, Anna; Montillot, Charlotte; Hugel, Sylvain; Morella, Ilaria; Kannan, Meghna; Fischer, Marie-Christine; Milhau, Maxence; Yalcin, Ipek; Brambilla, Riccardo; Selloum, Mohammed; Herault, Yann; Reymond, Alexandre; Collins, Stephan C.; Yalcin, Binnaz Share Save
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder Mattioli, Francesca; Worpenberg, Lina; Li, Cai-Tao; Ibrahim, Nazia; Naz, Shagufta; Sharif, Saima; Firouzabadi, Saghar G.; Vosoogh, Shohreh; Saraeva-Lamri, Radoslava; Raymond, Laure; Trujillo, Carlos; Guex, Nicolas; Antonarakis, Stylianos E.; Ansar, Muhammad; Darvish, Hossein; Liu, Ru-Juan; Roignant, Jean-Yves; Reymond, Alexandre Share Save
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations Di-Battista, Adriana; Favilla, Bianca Pereira; Zamariolli, Malu; Nunes, Natalia; Defelicibus, Alexandre; Armelin-Correa, Lucia; da Silva, Israel Tojal; Reymond, Alexandre; Moyses-Oliveira, Mariana; Melaragno, Maria Isabel Share Save
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M. Share Save
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' (Dec, 10.1038/s41431-022-01241-4, 2022) Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio Share Save
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; European Soc Human Genetics Share Save
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand Mikhailova, Alina G.; Mikhailova, Alina A.; Ushakova, Kristina; Tretiakov, Evgeny O.; Iliushchenko, Dmitrii; Shamansky, Victor; Lobanova, Valeria; Kozenkov, Ivan; Efimenko, Bogdan; Yurchenko, Andrey A.; Kozenkova, Elena; Zdobnov, Evgeny M.; Makeev, Vsevolod; Yurov, Valerian; Tanaka, Masashi; Gostimskaya, Irina; Fleischmann, Zoe; Annis, Sofia; Franco, Melissa; Wasko, Kevin; Denisov, Stepan; Kunz, Wolfram S.; Knorre, Dmitry; Mazunin, Ilya; Nikolaev, Sergey; Fellay, Jacques; Reymond, Alexandre; Khrapko, Konstantin; Gunbin, Konstantin; Popadin, Konstantin Share Save
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A. Share Save
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (vol 30, pg 493, 2021) Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio Share Save
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PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio Share Save
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