Riccardi F - Search Results

1

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. Iqbal M, et al. Among authors: riccardi f. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. Genet Med. 2021. PMID: 34244665 Free PMC article.

2

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L. Mignon-Ravix C, et al. Among authors: riccardi f. Hum Mutat. 2018 Jul;39(7):934-938. doi: 10.1002/humu.23534. Epub 2018 May 3. Hum Mutat. 2018. PMID: 29663568

3

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Riccardi F, Urquhart J, McCullagh G, Lawrence P, Douzgou S. Riccardi F, et al. Clin Dysmorphol. 2019 Apr;28(2):66-70. doi: 10.1097/MCD.0000000000000259. Clin Dysmorphol. 2019. PMID: 30762603 No abstract available.

4

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Among authors: riccardi f. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.

5

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN; Care4Rare Canada Consortium; Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Whalen S, et al. Among authors: riccardi f. Eur J Hum Genet. 2021 Sep;29(9):1405-1417. doi: 10.1038/s41431-021-00821-0. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603160 Free PMC article.

6

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.

Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, Pécheux C, Nguyen K, Lévy N, Gorokhova S, Krahn M. Charnay T, et al. Among authors: riccardi f. Genet Med. 2021 Aug;23(8):1574-1577. doi: 10.1038/s41436-021-01164-3. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927379 Free article.

7

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Riccardi F, Astier A, Grisval M, Maillard A, Michaud V, Badens C, Gordon CT, Trimouille A, Faivre L, Amiel J, Sigaudy S, Gorokhova S. Riccardi F, et al. Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2. Genet Med. 2021. PMID: 34079076 Free article. No abstract available.

8

Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. Abaji M, et al. Among authors: riccardi f. J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849228

9

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Mignon-Ravix C, Riccardi F, Daquin G, Cacciagli P, Lamoureux-Toth S, Villard L, Villeneuve N, Molinari F. Mignon-Ravix C, et al. Among authors: riccardi f. Epilepsia. 2023 Jun;64(6):e127-e134. doi: 10.1111/epi.17603. Epub 2023 Apr 17. Epilepsia. 2023. PMID: 37014259

10

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Khosrowabadi E, Mignon-Ravix C, Riccardi F, Cacciagli P, Desnous B, Sigaudy S, Milh M, Villard L, Kjellén L, Molinari F. Khosrowabadi E, et al. Among authors: riccardi f. Hum Mol Genet. 2024 Feb 28;33(6):520-529. doi: 10.1093/hmg/ddad203. Hum Mol Genet. 2024. PMID: 38129107

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