Wollnik, Bernd

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16.11.2022

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

Authors Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Journal Frontiers in Cell and Developmental Biology Citation Front Cell Dev Biol. 2022 Nov 16;10:1025332. Abstract STAG2
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11.10.2022

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Authors Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Journal Human Genetics Citation Human Genetics. preprint under review. 2022 Abstract Arthrogryposis multiplex congenita forms a broad group of
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05.07.2022

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly

Authors Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li
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07.06.2022

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent
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08.03.2022

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease

Authors Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G Journal Scientific Reports Citation Sci Rep. 2022 Mar 8;12(1):4091. Abstract Single cell multi-omics analysis has the potential to yield a comprehensive understanding of the cellular events that underlie the
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08.03.2022

Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients

Authors Haupt LP, Rebs S, Maurer W, Hübscher D, Tiburcy M, Pabel S, Maus A, Köhne S, Tappu R, Haas J, Li Y, Sasse A, Santos CCX, Dressel R, Wojnowski L, Bunt G, Möbius W, Shah AM, Meder B, Wollnik B, Sossalla S, Hasenfuss G, Streckfuss-Bömeke K Journal Basic Research
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26.02.2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

Authors Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Feb 26. Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of
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31.01.2022

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and
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11.10.2021

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Authors Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B Journal European Journal of Human Genetics Citation Eur J Hum Genet. 2021 Oct 11. Abstract Variants in transcription factor p63 have been linked to several autosomal dominantly
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20.09.2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features

Authors Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B Journal
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