List of Publications
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Juvenile Huntington’s disease: two case reports and a review of the literature
Lesinskienė S, Rojaka D, Praninskienė R, Morkūnienė A, Matulevičienė A, Utkus A
Journal of medical case reports. 2020 Oct 1;14(1):173.
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Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH
Journal of medical genetics. 2020;57(10):660–3.
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Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH
Journal of medical genetics. 2021;58(6):362–8.
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Lateral Versus Medial Hallux Excision in Preaxial Polydactyly of the Foot
Burger EB, Bus SA, Hovius SER, van Nieuwenhoven CA
Foot & ankle international. 2020 Dec;41(12):1553–62.
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The European perspective on the Oberg-Manske-Tonkin classification: challenges for implementation, databases and registries
Hülsemann W, Mann M, van Nieuwenhoven C, Sletten IN, Winge M
The Journal of hand surgery, European volume. 2020;45(10):1112–3.
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Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
Proietti Onori M, van Woerden GM
Brain research bulletin. 2021;171:209–20.
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Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
Gisatulin M, Dobricic V, Zühlke C, Hellenbroich Y, Tadic V, Münchau A, Isenhardt K, Bürk K, Bahlo M, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N
Neurology. 2020;95(21):e2912–23
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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E
Clinical genetics. 2020;98(4):418–9.
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Nucleic acids research. 2020;48(W1):W162–9
Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D
VarFish: comprehensive DNA variant analysis for diagnostics and research
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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott C-E, Mensah MA
Journal of medical Internet research. 2020;22(10):e19263.