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European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 198 - 207
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1005 - 1014
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 4, pp. 515 - 526
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1456 - 1467
Journal Article
International journal of molecular sciences, ISSN 1661-6596, 03/2019, Volume 20, Issue 6, p. 1296
For the past few years there has been an exponential increase in the use of animal models to confirm the pathogenicity of candidate disease-causing genetic... 
functional assays | zebrafish | disease models | neurodevelopmental disorders | DANIO-RERIO | TRANSGENIC ZEBRAFISH | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINAL-CORD | CHEMISTRY, MULTIDISCIPLINARY | ATTENTION-DEFICIT/HYPERACTIVITY DISORDER | OLFACTORY-BULB | TARGETED GENE-EXPRESSION | NEURONS | SEX-DIFFERENCES | MUTATIONS | BRAIN
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 06/2019, Volume 10, p. 608
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as... 
muscular dystrophy | MODULE | haploinsufficiency | GENETICS & HEREDITY | myoferlin | zebrafish | cardiomyopathy | CLEAVAGE | MYOBLAST FUSION | DYSFERLIN | RNA sequencing | Usage | Cardiomyopathy | Zebra fish | Genetic aspects | Heart diseases | Muscular dystrophy
Journal Article
Molecular Biology and Evolution, ISSN 0737-4038, 09/2019
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 09/2019, Volume 10
The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome... 
ORGANIZATION | neurofascin | patient-specific induced pluripotent stem cells | PROTEIN | neuronal isoform NF186 | ataxia | GENETICS & HEREDITY | neuroepithelial stem cells | neurites | CHANNELS | PURKINJE
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article