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Year Number of Results
2013 1
2015 3
2016 1
2017 1
2018 2
2019 3
2020 7
2021 6
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2023 4
2024 1

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28 results

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Page 1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: pascolini g. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free PMC article.
Ectoderm-derived findings in Aymè-Gripp syndrome.
Pascolini G, Di Zenzo G, Morani P, Didona B, Panebianco A. Pascolini G, et al. J Dermatol. 2023 Dec 22. doi: 10.1111/1346-8138.17053. Online ahead of print. J Dermatol. 2023. PMID: 38131236 No abstract available.
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Baban A, Cicenia M, Magliozzi M, Parlapiano G, Cirillo M, Pascolini G, Fattori F, Gnazzo M, Bruno P, De Luca L, Di Chiara L, Francalanci P, Udd B, Secinaro A, Amodeo A, Bertini ES, Savarese M, Drago F, Novelli A. Baban A, et al. Among authors: pascolini g. Front Cardiovasc Med. 2023 Jul 27;10:1210378. doi: 10.3389/fcvm.2023.1210378. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37576110 Free PMC article.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S. Breen MS, et al. Among authors: pascolini g. Am J Hum Genet. 2020 Sep 3;107(3):555-563. doi: 10.1016/j.ajhg.2020.07.003. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758449 Free PMC article.
28 results