List of Publications
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Defining the clinical phenotype of Saul-Wilson syndrome
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia Z-J, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB
Genetics in medicine : official journal of the American College of Medical Genetics. 2020;22(5):857–66
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Skeletal ciliopathies: a pattern recognition approach
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Japanese journal of radiology. 2020 Mar;38(3):193–206.
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An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Bindels‐de Heus KGCB, Mous SE, Hooven‐Radstaake M, Iperen‐Kolk BM, Navis C, Rietman AB, Hoopen LW, Brooks AS, Elgersma Y, Moll HA, Wit MY
American Journal of Medical Genetics Part A. 2020 Jan 15;182(1):53–63.
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Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
Holopainen E, Vakkilainen S, Mäkitie O
Orphanet journal of rare diseases. 2020;15(1):326.
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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon Y-U, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim O-H, Forlino A, Cho T-J, Mäkitie O
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2021;36(2):283–97
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Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K
American journal of medical genetics Part A. 2020;182(11):2605–10.
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COVID‐19 and Immunological Dysregulation: Can Autoantibodies be Useful?
Pascolini S, Vannini A, Deleonardi G, Ciordinik M, Sensoli A, Carletti I, Veronesi L, Ricci C, Pronesti A, Mazzanti L, Grondona A, Silvestri T, Zanuso S, Mazzolini M, Lalanne C, Quarneti C, Fusconi M, Giostra F, Granito A, Muratori L, Lenzi M, Muratori P
Clinical and Translational Science. 2021 Mar 20;14(2):502–8
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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
Journal of medical genetics. 2022;59(2):189–95.
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
Genetics in Medicine. 2021 Mar;23(3):479–87.
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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
Pennamen P, Tingaud‐Sequeira A, Michaud V, Morice‐Picard F, Plaisant C, Vincent‐Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B
Pigment Cell & Melanoma Research. 2021 Jan 3;34(1):132–5