List of Publications
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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
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Re-focusing on Agnathia-Otocephaly complex
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J
Clinical Oral Investigations. 2021 Mar 9;25(3):1353–62.
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Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Chirita-Emandi A, Andreescu N, Popa C, Mihailescu A, Riza A-L, Plesea R, Ioana M, Arghirescu S, Puiu M
Journal of medical genetics. 2021;58(9):648–52.
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Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA.
American Journal of Medical Genetics Part A. 2019 Sep;179(9):1725–44