Published Data Registry

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TitleAuthors ▴JournalPublication year
DOI
PMID
Familial cleft tongue caused by a unique translation initiation codon variant in TP63(Open Access) Schmidt J, Schreiber G, (...), Wollnik BEuropean Journal of Human Genetics2021
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum(Open Access) Schmidt J, Dreha-Kulaczewski S, (...), Wollnik BFrontiers in Cell and Developmental Biology2022
Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome(Open Access) Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik BClinical Genetics2022
Posterior analysis of n in the binomial (n,p) problem with both parameters unknown -- with applications to quantitative nanoscopy(Open Access) Schmidt-Hieber J, Schneider LF, Staudt T, Krajina A, Aspelmeier T, Munk AarXiv2021
Posterior analysis of n in the binomial (n,p) problem with both parameters unknown—with applications to quantitative nanoscopy(Open Access) Schmidt-Hieber J, Schneider LF, Staudt T, Krajina A, Aspelmeier T, Munk AAnnals of Statistics2021
Structural basis of catalytic activation in human splicing(Open Access) Schmitzová J, Cretu C, Dienemann C, Urlaub H, Pena VNature2023
Genome engineering of a neuronal specific, optogenetic, induced pluripotent stem cell lineSchmoll AK, Mager T, Tse TP, Alameldeen A, Zimmermann W, Zafeiriou MStem Cell Research2024
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly(Open Access) Schnabel F, Schuler E, (...), Yigit GHuman Genetics2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita(Open Access) Schnabel F, Schuler E, (...), Yigit GResearchsquare2022
Aplasia cutis congenita in a CDC42‐related developmental phenotypeSchnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker MAmerican Journal of Medical Genetics Part A2020