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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec.
Neurol Genet. 2021.
PMID: 34790866
Free PMC article.
A novel mutation of BEST1 gene in Best disease.
Campa C, Parmeggiani F, Spena R, Ognibene D, Passerini I, Gualandi F.
Campa C, et al. Among authors: ognibene d.
Eur J Ophthalmol. 2021 May;31(3):NP93-NP95. doi: 10.1177/1120672120920536. Epub 2020 Apr 22.
Eur J Ophthalmol. 2021.
PMID: 32321300
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW.
Cousin MA, et al. Among authors: ognibene d.
Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4.
Genome Med. 2022.
PMID: 35698242
Free PMC article.
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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A.
Bigoni S, et al. Among authors: ognibene d.
Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018.
Front Genet. 2019.
PMID: 30740127
Free PMC article.
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Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Bigoni S, Marangi G, Frangella S, Panfili A, Ognibene D, Squeo GM, Merla G, Zollino M.
Bigoni S, et al. Among authors: ognibene d.
Genes (Basel). 2020 Oct 9;11(10):1177. doi: 10.3390/genes11101177.
Genes (Basel). 2020.
PMID: 33050294
Free PMC article.
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