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Annals of Neurology, ISSN 0364-5134, 09/2017, Volume 82, Issue 3, pp. 466 - 478
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 46 - 53
The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016.... 
GENETICS & HEREDITY | Genetic counseling | Medical genetics | Training | Curricula | Occupational health | Genetic testing | Health risk assessment | Genetic counselling | Patients | Genetic screening | Niches
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2018, Volume 14, Issue 11, p. e1007671
Journal Article
Journal Article
by Salpietro, V and Dixon, CL and Guo, H and Bello, OD and Vandrovcova, J and Efthymiou, S and Maroofian, R and Heimer, G and Burglen, L and Valence, S and Torti, E and Hacke, M and Rankin, J and Tariq, H and Colin, E and Procaccio, V and Striano, P and Mankad, K and Lieb, A and Chen, S and Pisani, L and Bettencourt, C and Mannikko, R and Manole, A and Brusco, A and Grosso, E and Ferrero, GB and Armstrong-Moron, J and Gueden, S and Bar-Yosef, O and Tzadok, M and Monaghan, KG and Santiago-Sim, T and Person, RE and Cho, MT and Willaert, R and Yoo, Y and Chae, JH and Quan, YT and Wu, HD and Wang, TY and Bernier, RA and Xia, K and Blesson, A and Jain, M and Motazacker, MM and Jaeger, B and Schneider, AL and Boysen, K and Muir, AM and Myers, CT and Gavrilova, RH and Gunderson, L and Schultz-Rogers, L and Klee, EW and Dyment, D and Osmond, M and Parellada, M and Llorente, C and Gonzalez-Penas, J and Carracedo, A and Van Haeringen, A and Ruivenkamp, C and Nava, C and Heron, D and Nardello, R and Iacomino, M and Minetti, C and Skabar, A and Fabretto, A and Chez, M and Tsai, A and Fassi, E and Shinawi, M and Constantino, JN and De Zorzi, R and Fortuna, S and Kok, F and Keren, B and Bonneau, D and Choi, M and Benzeev, B and Zara, F and Mefford, HC and Scheffer, IE and Clayton-Smith, J and Macaya, A and Rothman, JE and Eichler, EE and Kullmann, DM and Houlden, H and Raspall-Chaure, M and Hanna, MG and Bugiardini, E and Hostettler, I and O'Callaghan, B and Khan, A and Cortese, A and O'Connor, E and Yau, WY and ... and SYNAPS Study Grp and SYNAPS Study Group
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Bone, ISSN 8756-3282, 04/2019, Volume 121, pp. 163 - 171
Heterozygous pathogenic variants in the gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals... 
FN1 | Coxa vara | Corner-fracture | Skeletal dysplasia | Mutation | Fibronectin
Journal Article
BONE, ISSN 8756-3282, 04/2019, Volume 121, pp. 163 - 171
Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some... 
MATRIX | GLOMERULOPATHY | OSTEOBLAST DIFFERENTIATION | PROTEIN | RESORPTION | FN1 | Skeletal dysplasia | Fibronectin | Coxa vara | Corner-fracture | ENDOCRINOLOGY & METABOLISM | Mutation | BONE | Fibronectins | Dysplasia | Cysteine | Genetic aspects
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, pp. 537 - 545
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, p. 537
  Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings... 
Congenital diseases | Genetic disorders | Zebrafish | Mutation | Muscular dystrophy | Cytoplasm
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article