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Christiane Zweier
List of publications:
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Medizinische Fakultät
Project Leads
(2)
Publications
(112)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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Conference contribution
Conference contribution
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020)
Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al.
Journal article
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al.
Journal article
Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019)
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al.
Journal article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019)
Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al.
Journal article
CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al.
Conference contribution
Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019)
Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al.
Conference contribution
Delineation of the clinical phenotype caused by de novo CLTC variants (2019)
Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Conference contribution
Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019)
Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al.
Conference contribution
Skeletal defects and defective osteoclast and osteoblast function in Ayme-Gripp syndrome (2019)
Niceta M, Del Fattore A, Barbuti D, Rossi M, Stellacci E, Gupta N, Ruggiero C, et al.
Conference contribution
Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019)
Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al.
Conference contribution, Abstract of a poster
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