List of Publications
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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
Wenger BM, Patel N, Lui M, Moscati A, Do R, Stewart DR, Tartaglia M, Muiño-Mosquera L, de Backer J, Kontorovich AR, Gelb BD
Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(1):94–102
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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders
Lorca R, Pannone L, Cuesta-Llavona E, Bocchinfuso G, Rodríguez-Reguero J, Carpentieri G, Hernando I, Flex E, Tartaglia M, Coto E, Gómez J, Martinelli S
Clinical genetics. 2021;99(3):457–61
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Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS, Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A, Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A, Alaggio R
Brain pathology (Zurich, Switzerland). 2021;31(3):e12934
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Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency
Niceforo A, Marioli C, Colasuonno F, Petrini S, Massey K, Tartaglia M, Bertini E, Moreno S, Compagnucci C
Disease models & mechanisms. 2021 Jan 19
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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Leoni C, Romeo DM, Pelliccioni M, di Già M, Onesimo R, Giorgio V, Flex E, Tedesco M, Tartaglia M, Rigante D, Valassina A, Zampino G
Orphanet journal of rare diseases. 2021;16(1):43
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G
American journal of human genetics. 2021 Feb 4;108(2):368
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When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Scott A, di Giosaffatte N, Pinna V, Daniele P, Corno S, D’Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge A-M, Tartaglia M, Delrue M-A, de Luca A
Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(6):1116–24
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Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling
Lopez-Nunez O, Alaggio R, John I, Ciolfi A, Pedace L, Mastronuzzi A, Gianno F, Giangaspero F, Rossi S, Donofrio V, Cinalli G, Surrey LF, Tartaglia M, Locatelli F, Miele E
Cancers. 2021 Feb 9;13(4)
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G
American journal of human genetics. 2021 Mar 4;108(3):530–1
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Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome
Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D’Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S
Brain sciences. 2021 Feb 13;11(2)