C5orf42

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

ciliopathies

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

heart defects

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/ejhg.2013.17)

intellectual disability

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/ejhg.2013.17)

KIF7

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

MED13L

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/ejhg.2013.17)

SHH

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)