RG Wollnik

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  • 2024 | Journal Article
    ​ ​Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications​
    Chelban, V.; Aksnes, H.; Maroofian, R.; LaMonica, L. C.; Seabra, L.; Siggervåg, A. & Devic, P. et al.​ (2024) 
    Nature Communications, 15(1) pp. 2269​.​ DOI: https://doi.org/10.1038/s41467-024-46354-0 
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  • 2024 | Journal Article
    ​ ​Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes​
    Schmidt, J.; Kaulfuß, S.; Ott, H.; Gaubert, M.; Reintjes, N.; Bremmer, F. & Dreha-Kulaczewski, S. et al.​ (2024) 
    Human Genetics,.​ DOI: https://doi.org/10.1007/s00439-023-02634-1 
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  • 2024 | Journal Article
    ​ ​Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants​
    Knauer, C.; Haltern, H.; Schoger, E.; Kügler, S.; Roos, L.; Zelarayán, L. C. & Hasenfuss, G. et al.​ (2024) 
    Molecular Therapy - Nucleic Acids, 35(1) art. 102123​.​ DOI: https://doi.org/10.1016/j.omtn.2024.102123 
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  • 2024 | Journal Article
    ​ ​3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes​
    Pochechueva, T. V.; Schwenzer, N.; Kohl, T.; Brandenburg, S.; Kaltenecker, G.; Wollnik, B. & Lehnart, S. E.​ (2024) 
    International Journal of Molecular Sciences, 25(6) pp. 3183​.​ DOI: https://doi.org/10.3390/ijms25063183 
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  • 2023 | Journal Article | 
    ​ ​FGFR1 variants contributed to families with tooth agenesis​
    Yao, S.; Zhou, X.; Gu, M.; Zhang, C.; Bartsch, O.; Vona, B. & Fan, L. et al.​ (2023) 
    Human Genomics, 17(1) art. 93​.​ DOI: https://doi.org/10.1186/s40246-023-00539-8 
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  • 2023 | Journal Article | 
    ​ ​The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued​
    Schröder, S.; Yigit, G.; Li, Y.; Altmüller, J.; Büttel, H.-M.; Fiedler, B. & Kretzschmar, C. et al.​ (2023) 
    Orphanet Journal of Rare Diseases, 18(1) art. 101​.​ DOI: https://doi.org/10.1186/s13023-023-02706-5 
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  • 2023 | Preprint
    ​ ​LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome​
    Busley, A. V.; Gutiérrez-Gutiérrez, Ó.; Hammer, E.; Steinegger, M.; Böhmer, L.; Schroeder, H.& Kleinsorge, M. et al.​ (2023). DOI: https://doi.org/10.1101/2023.01.10.523203 
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  • 2023 | Journal Article | 
    ​ ​N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody​
    Zibat, A.; Zhang, X.; Dickmanns, A.; Stegmann, K. M.; Dobbelstein, A. W.; Alachram, H. & Soliwoda, R. et al.​ (2023) 
    iScience, 26(10) art. 107786​.​ DOI: https://doi.org/10.1016/j.isci.2023.107786 
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  • 2023 | Journal Article
    ​ ​An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies​
    Hasselluhn, M. C.; Schlösser, D.; Versemann, L.; Schmidt, G. E.; Ulisse, M.; Oschwald, J. & Zhang, Z. et al.​ (2023) 
    Gastroenterology,.​ DOI: https://doi.org/10.1053/j.gastro.2023.10.026 
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  • 2023 | Journal Article
    ​ ​Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders​
    Kaiyrzhanov, R.; Rad, A.; Lin, S.-J.; Bertoli-Avella, A.; Kallemeijn, W. W; Godwin, A. & Zaki, M. S et al.​ (2023) 
    Brain, art. awad380​.​ DOI: https://doi.org/10.1093/brain/awad380 
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  • 2023 | Journal Article
    ​ ​Unraveling haplotype errors in the DFNA33 locus​
    Vona, B.; Regele, S.; Rad, A.; Strenzke, N.; Pater, J. A.; Neumann, K. & Sturm, M. et al.​ (2023) 
    Frontiers in Genetics, 14 art. 1214736​.​ DOI: https://doi.org/10.3389/fgene.2023.1214736 
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  • 2023 | Journal Article | 
    ​ ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly​
    Schnabel, F.; Schuler, E.; Al-Maawali, A.; Chaurasia, A.; Syrbe, S.; Al-Kindi, A. & Bhavani, G. S. et al.​ (2023) 
    Human Genetics, 142(4) pp. 543​-552​.​ DOI: https://doi.org/10.1007/s00439-023-02528-2 
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  • 2023 | Journal Article
    ​ ​Spliceosome malfunction causes neurodevelopmental disorders with overlapping features​
    Li, D.; Wang, Q.; Bayat, A.; Battig, M. R.; Zhou, Y.; Bosch, D. G. & van Haaften, G. et al.​ (2023) 
    Journal of Clinical Investigation,.​ DOI: https://doi.org/10.1172/JCI171235 
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  • 2023 | Journal Article
    ​ ​Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings​
    Kalay, I.; Aykut, H.; Caliskan, Z.; Yigit, G. & Wollnik, B.​ (2023) 
    Molecular Genetics and Metabolism Reports, 37 art. 101022​.​ DOI: https://doi.org/10.1016/j.ymgmr.2023.101022 
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  • 2023 | Journal Article
    ​ ​Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain​
    Averdunk, L.; Al‐Thihli, K.; Surowy, H.; Lüdecke, H.; Drechsler, M.; Yigit, G. & Smorag, L. et al.​ (2023) 
    Clinical Genetics, art. cge.14290​.​ DOI: https://doi.org/10.1111/cge.14290 
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  • 2022 | Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function​
    Lin, S.; Vona, B.; Porter, H. M.; Izadi, M.; Huang, K.; Lacassie, Y. & Rosenfeld, J. A. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1472​-1489​.​ DOI: https://doi.org/10.1002/humu.24435 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​
    Gönenc, I. I.; Wolff, A.; Schmidt, J.; Zibat, A.; Müller, C.; Cyganek, L. & Argyriou, L. et al.​ (2022) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddab373 
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  • 2022 | Preprint
    ​ ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita​
    Schnabel, F.; Schuler, E.; Al-Maawali, A.; Chaurasia, A.; Syrbe, S.; Al-Kindi, A.& Bhav, G. S. et al.​ (2022). DOI: https://doi.org/10.21203/rs.3.rs-2121654/v1 
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  • 2022 | Journal Article
    ​ ​Whole genome sequencing for newborns—The devil is in the details​
    Vona, B.​ (2022) 
    Clinical and Translational Discovery, 2(3).​ DOI: https://doi.org/10.1002/ctd2.102 
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  • 2022 | Journal Article | 
    ​ ​GGPS1-associated muscular dystrophy with and without hearing loss​
    Kaiyrzhanov, R.; Perry, L.; Rocca, C.; Zaki, M. S.; Hosny, H.; Araujo Martins Moreno, C. & Phadke, R. et al.​ (2022) 
    Annals of Clinical and Translational Neurology, art. acn3.51633​.​ DOI: https://doi.org/10.1002/acn3.51633 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome​
    Schmidt, J. ; Bremmer, F. ; Brockmann, K. ; Kaulfuß, S.   & Wollnik, B. ​ (2022) 
    Clinical Genetics, 102(3) art. cge.14174​.​ DOI: https://doi.org/10.1111/cge.14174 
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  • 2022 | Journal Article | 
    ​ ​Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients​
    Haupt, L. P.; Rebs, S.; Maurer, W.; Hübscher, D.; Tiburcy, M.; Pabel, S. & Maus, A. et al.​ (2022) 
    Basic Research in Cardiology, 117(1) art. 13​.​ DOI: https://doi.org/10.1007/s00395-022-00918-7 
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  • 2022 | Journal Article | 
    ​ ​Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case​
    Yao, S.; Zhou, X.; Vona, B.; Fan, L.; Zhang, C.; Li, D. & Yuan, H. et al.​ (2022) 
    International Journal of Molecular Sciences, 23(18) pp. 10673​.​ DOI: https://doi.org/10.3390/ijms231810673 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​
    Shomroni, O. ; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F. ; Yigit, G.   & Zelarayan, L. C.  et al.​ (2022) 
    Scientific Reports, 12(1) art. 4091​.​ DOI: https://doi.org/10.1038/s41598-022-07874-1 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome​
    Gönenc, I. I.; Elcioglu, N. H.; Martinez Grijalva, C.; Aras, S.; Großmann, N.; Praulich, I. & Altmüller, J. et al.​ (2022) 
    Clinical Genetics, 101(5-6) pp. 559​-564​.​ DOI: https://doi.org/10.1111/cge.14125 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Familial cleft tongue caused by a unique translation initiation codon variant in TP63​
    Schmidt, J.; Schreiber, G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Li, Y. & Kaulfuß, S. et al.​ (2021) 
    European Journal of Human Genetics, 30(2) pp. 211​-218​.​ DOI: https://doi.org/10.1038/s41431-021-00967-x 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Biallelic variants in YRDC cause a developmental disorder with progeroid features​
    Schmidt, J.; Goergens, J.; Pochechueva, T.; Kotter, A.; Schwenzer, N.; Sitte, M. & Werner, G. et al.​ (2021) 
    Human Genetics, 140(12) pp. 1679​-1693​.​ DOI: https://doi.org/10.1007/s00439-021-02347-3 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology​
    Kargapolova, Y.; Rehimi, R.; Kayserili, H.; Brühl, J.; Sofiadis, K.; Zirkel, A. & Palikyras, S. et al.​ (2021) 
    Nature Communications, 12(1) art. 3014​.​ DOI: https://doi.org/10.1038/s41467-021-23327-1 
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  • 2021 | Preprint
    ​ ​Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​
    Gönenc, I. I.; Wolff, A.; Schmidt, J.; Zibat, A.; Müller, C.; Cyganek, L.  & Argyriou, L. et al.​ (2021). DOI: https://doi.org/10.1101/2021.10.01.462717 
    ​Details  DOI 
  • 2021 | Preprint
    ​ ​A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease​
    Shomroni, O.; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F.; Yigit, G.& Zelarayan, L. C.  et al.​ (2021). DOI: https://doi.org/10.21203/rs.3.rs-957427/v1 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper
    ​ ​Genomic basis of syndromic short stature in an Algerian patient cohort​
    Moosa, S.; Chentli, F.; Altmüller, J.; Bögershausen, N.; Nürnberg, P.; Yigit, G. & Li, Y. et al.​ (2021) 
    American Journal of Medical Genetics Part A,.​ DOI: https://doi.org/10.1002/ajmg.a.62532 
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  • 2021 | Journal Article | Overview
    ​ ​Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy​
    Yigit, G. & Wollnik, B. ​ (2021) 
    Medizinische Genetik, 33(3) pp. 235​-243​.​ DOI: https://doi.org/10.1515/medgen-2021-2094 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state​
    Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al.​ (2021) 
    Journal of Medical Genetics, 59(6) pp. 549​-553​.​ DOI: https://doi.org/10.1136/jmedgenet-2021-107769 
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  • 2021 | Journal Article | Research Paper
    ​ ​RNF43 pathogenic Germline variant in a family with colorectal cancer​
    Mikaeel, R. R.; Young, J. P.; Li, Y.; Poplawski, N. K.; Smith, E.; Horsnell, M. & Uylaki, W. et al.​ (2021) 
    Clinical Genetics,.​ DOI: https://doi.org/10.1111/cge.14064 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies​
    Iqbal, M.; Maroofian, R.; Çavdarlı, B.; Riccardi, F.; Field, M.; Banka, S. & Bubshait, D. K. et al.​ (2021) 
    Genetics in Medicine,.​ DOI: https://doi.org/10.1038/s41436-021-01260-4 
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  • 2021 | Journal Article | Research Paper
    ​ ​Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer​
    Mikaeel, R. R.; Young, J. P.; Li, Y.; Smith, E.; Horsnell, M.; Uylaki, W. & Tapia Rico, G. et al.​ (2021) 
    Genes, Chromosomes and Cancer,.​ DOI: https://doi.org/10.1002/gcc.23011 
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  • 2021 | Journal Article | Research Paper
    ​ ​MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease​
    Khuller, K.; Yigit, G.; Martínez Grijalva, C.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Elcioglu, N. H. et al.​ (2021) 
    European Journal of Medical Genetics, 64(10) art. S1769721221001762​.​ DOI: https://doi.org/10.1016/j.ejmg.2021.104310 
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  • 2021 | Journal Article | Research Paper
    ​ ​Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes​
    Peper, J.; Kownatzki-Danger, D.; Weninger, G.; Seibertz, F.; Pronto, J. R. D.; Sutanto, H. & Pacheu-Grau, D. et al.​ (2021) 
    Circulation Research, 128(6).​ DOI: https://doi.org/10.1161/CIRCRESAHA.119.316547 
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  • 2020 | Preprint
    ​ ​Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology​
    Kargapolova, Y.; Rehimi, R.; Kayserili, H.; Brühl, J.; Zirkel, A.; Li, Y.& Yigit, G. et al.​ (2020). DOI: https://doi.org/10.1101/2020.01.27.921171 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper
    ​ ​Aplasia cutis congenita in a CDC42 ‐ related developmental phenotype​
    Schnabel, F.; Kamphausen, S. B.; Funke, R.; Kaulfuß, S. ; Wollnik, B.   & Zenker, M.​ (2020) 
    American Journal of Medical Genetics Part A, 185(3) pp. 850​-855​.​ DOI: https://doi.org/10.1002/ajmg.a.62009 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Human RAD50 deficiency: Confirmation of a distinctive phenotype​
    Ragamin, A.; Yigit, G. ; Bousset, K.; Beleggia, F.; Verheijen, F. W.; Wit, M. Y. & Strom, T. M. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(6) pp. 1378​-1386​.​ DOI: https://doi.org/10.1002/ajmg.a.61570 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​
    Ufartes, R.; Berger, H.; Till, K.; Salinas, G. ; Sturm, M.; Altmüller, J. & Nürnberg, P. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
    Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​
    Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. et al.​ (2020) 
    European Journal of Human Genetics, 28(10) pp. 1422​-1431​.​ DOI: https://doi.org/10.1038/s41431-020-0654-4 
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  • 2020 | Journal Article | Research Paper
    ​ ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​
    Hanses, U.; Kleinsorge, M.; Roos, L.; Yigit, G. ; Li, Y. ; Barbarics, B. & El-Battrawy, I. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine, 23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
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  • 2020 | Journal Article | Overview | 
    ​ ​Premature aging disorders: A clinical and genetic compendium​
    Schnabel, F.; Kornak, U.   & Wollnik, B. ​ (2020) 
    Clinical Genetics, 99(1) pp. 3​-28​.​ DOI: https://doi.org/10.1111/cge.13837 
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  • 2019 | Journal Article | Research Paper
    ​ ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al.​ (2019) 
    The American Journal of Human Genetics, 105(4) pp. 836​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.08.008 
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  • 2019 | Journal Article | Research Paper | 
    ​ ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​
    Yigit, G. ; Saida, K.; DeMarzo, D.; Miyake, N.; Fujita, A.; Yang Tan, T. & White, S. M. et al.​ (2019) 
    Human Mutation, 41(3) pp. 591​-599​.​ DOI: https://doi.org/10.1002/humu.23964 
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  • 2018 | Journal Article | Overview
    ​ ​Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​
    Schmidt, J.   & Wollnik, B. ​ (2018) 
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178(4) pp. 398​-406​.​ DOI: https://doi.org/10.1002/ajmg.c.31668 
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  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
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  • 2018 | Journal Article | Research Paper
    ​ ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al.​ (2018) 
    Journal of Medical Genetics, 55(12) pp. 837​-846​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105528 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​
    Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al.​ (2017) 
    Nature Genetics, 49(2) pp. 249​-255​.​ DOI: https://doi.org/10.1038/ng.3765 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper | 
    ​ ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​
    Borchert, T. ; Hübscher, D. ; Guessoum, C. I. ; Lam, T. Lam, Tuan-Dinh D.; Ghadri, J. R.; Schellinger, I. N.   & Tiburcy, M.  et al.​ (2017) 
    Journal of the American College of Cardiology, 70(8) pp. 975​-991​.​ DOI: https://doi.org/10.1016/j.jacc.2017.06.061 
    ​Details  DOI  PMID  PMC 

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