Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kimberly Christine Coetzer"'
Autor:
Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)
Externí odkaz:
https://doaj.org/article/53490ee809494458b2dfb9c17cc26a84
Publikováno v:
American Journal of Medical Genetics Part A. 188:2684-2692
The Undiagnosed Disease Program in South Africa (UDP) sought to prospectively evaluate the clinical utility of exome sequencing (ES) in a phenotypically diverse, multi-ethnic cohort of South African patients with suspected rare genetic disorders. ES
Publikováno v:
American Journal of Medical Genetics Part A. 188:373-376
Hemizygous loss-of-function variants in the non-POU domain-containing, octamer-binding gene, NONO, cause X-linked mental retardation syndrome 34 (MRXS34). Here, we describe the 12th patient in the literature with this rare syndrome, the first affecte
Autor:
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian P. Schaaf, Stefan Mundlos, Markus M. Nöthen, Peter M. Krawitz
Publikováno v:
Nat. Genet. 54, 349-357 (2022)
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can support physicians in recognizing these patterns by associating facial phenotypes with the underlying syndrome through training on thousands of patient pho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45988d649a8b4b49875195265ed41e07
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64310
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64310
Autor:
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian Schaaf, Stefan Mundlos, Markus M. Nöthen, Peter Krawitz
Publikováno v:
Nat Genet
A large fraction of monogenic disorders causes craniofacial abnormalities with characteristic facial morphology. These disorders can be diagnosed more efficiently with the support of computer-aided next-generation phenotyping tools, such as DeepGesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8b172bb005662f7f54de852138d50c
https://doi.org/10.1101/2020.12.28.20248193
https://doi.org/10.1101/2020.12.28.20248193