List of Publications
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Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France
Suard C, Flori A, Paoli F, Loundou A, Fouilloux V, Sigaudy S, Michel F, Antomarchi J, Moceri P, Paquis-Flucklinger V, D’Ercole C, Bretelle F
PloS one. 2020;15(10):e0239476.
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Davies RW, Fiksinski AM, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vorstman JAS
Nature medicine. 2020;26(12):1912–8.
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HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence
Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T
The Journal of clinical endocrinology and metabolism. 2020;105(7).
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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