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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Published in:
Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
By:
- Melo, Uirá Souto;
- Piard, Juliette;
- Fischer-Zirnsak, Björn;
- Klever, Marius-Konstantin;
- Schöpflin, Robert;
- Mensah, Martin Atta;
- Holtgrewe, Manuel;
- Arbez-Gindre, Francine;
- Martin, Alain;
- Guigue, Virginie;
- Gaillard, Dominique;
- Landais, Emilie;
- Roze, Virginie;
- Kremer, Valerie;
- Ramanah, Rajeev;
- Cabrol, Christelle;
- Harms, Frederike L.;
- Kornak, Uwe;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
By:
- Suter, Aude‐Annick;
- Santos‐Simarro, Fernando;
- Toerring, Pernille Mathiesen;
- Abad Perez, Angela;
- Ramos‐Mejia, Rosario;
- Heath, Karen E.;
- Huckstadt, Victoria;
- Parrón‐Pajares, Manuel;
- Mensah, Martin Atta;
- Hülsemann, Wiebke;
- Holtgrewe, Manuel;
- Mundlos, Stefan;
- Kornak, Uwe;
- Bartsch, Oliver;
- Ehmke, Nadja
Publication type:
Article
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
Published in:
2020
By:
- Pantel, Jean Tori;
- Hajjir, Nurulhuda;
- Danyel, Magdalena;
- Elsner, Jonas;
- Abad-Perez, Angela Teresa;
- Hansen, Peter;
- Mundlos, Stefan;
- Spielmann, Malte;
- Horn, Denise;
- Ott, Claus-Eric;
- Mensah, Martin Atta
Publication type:
journal article
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 758, doi. 10.1111/cge.14059
By:
- Sczakiel, Henrike Lisa;
- Hülsemann, Wiebke;
- Holtgrewe, Manuel;
- Abad‐Perez, Angela Teresa;
- Elsner, Jonas;
- Schwartzmann, Sarina;
- Horn, Denise;
- Spielmann, Malte;
- Mundlos, Stefan;
- Mensah, Martin Atta
Publication type:
Article
REEV: review, evaluate and explain variants.
Published in:
Nucleic Acids Research, 2024, v. 52, n. W1, p. W148, doi. 10.1093/nar/gkae366
By:
- Hramyka, Dzmitry;
- Sczakiel, Henrike Lisa;
- Zhao, Max Xiaohang;
- Stolpe, Oliver;
- Nieminen, Mikko;
- Adam, Ronja;
- Danyel, Magdalena;
- Einicke, Lara;
- Hägerling, René;
- Knaus, Alexej;
- Mundlos, Stefan;
- Schwartzmann, Sarina;
- Seelow, Dominik;
- Ehmke, Nadja;
- Mensah, Martin Atta;
- Boschann, Felix;
- Beule, Dieter;
- Holtgrewe, Manuel
Publication type:
Article

Found: 5

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.

REEV: review, evaluate and explain variants.