Published Data Registry

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Title	Authors	Journal ▴	Publication year	DOI PMID
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly	Schnabel F, Schuler E, (...), Yigit G	Human Genetics	2023	10.1007/s00439-023-02528-2 36943452
Biallelic variants in YRDC cause a developmental disorder with progeroid features	Schmidt J, Goergens J, (...), Wollnik B	Human Genetics	2021	10.1007/s00439-021-02347-3 34545459
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis	Ganapathi M, Argyriou L, (...), Wollnik B	Human Genetics	2020	10.1007/s00439-020-02188-6 32514796
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome	Ufartes R, Berger H, (...), Pauli S	Human Genetics	2020	10.1007/s00439-020-02175-x 32424618
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene	Pater JA, Penney C, (...), Young T	Human Genetics	2022	10.1007/s00439-022-02444-x 35278131
FGFR1 variants contributed to families with tooth agenesis	Yao S, Zhou X, (...), Pan Y	Human Genomics	2023	10.1186/s40246-023-00539-8 37833774
Alpha-synuclein overexpression induces epigenomic dysregulation of glutamate signaling and locomotor pathways	Schaffner SL, Wassouf Z, (...), Kobor MS	Human Molecular Genetics	2022	10.1093/hmg/ddac104 35567546
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures	Gönenc II, Wolff A, (...), Wollnik B	Human Molecular Genetics	2022	10.1093/hmg/ddab373 35099000
The molecular machinery for maturation of primary mtDNA transcripts	Vučković A, Freyer C, Wredenberg A, Hillen HS	Human Molecular Genetics	2024	10.1093/hmg/ddae023 38779769
Coordinating mitochondrial translation with assembly of the OXPHOS complexes	Kremer LS, Rehling P	Human Molecular Genetics	2024	10.1093/hmg/ddae025 38779773