Superti-Furga A - Search Results

1

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

Koval A, Larasati YA, Savitsky M, Solis GP, Good JM, Quinodoz M, Rivolta C, Superti-Furga A, Katanaev VL. Koval A, et al. Med. 2023 May 12;4(5):311-325.e7. doi: 10.1016/j.medj.2023.03.001. Epub 2023 Mar 30. Med. 2023. PMID: 37001522 Free article.

2

Overweight and obesity in adult patients with phenylketonuria: a systematic review.

Tankeu AT, Pavlidou DC, Superti-Furga A, Gariani K, Tran C. Tankeu AT, et al. Orphanet J Rare Dis. 2023 Feb 22;18(1):37. doi: 10.1186/s13023-023-02636-2. Orphanet J Rare Dis. 2023. PMID: 36814307 Free PMC article.

3

Biotinidase deficiency: What have we learned in forty years?

Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, Tran C. Tankeu AT, et al. Mol Genet Metab. 2023 Apr;138(4):107560. doi: 10.1016/j.ymgme.2023.107560. Epub 2023 Mar 24. Mol Genet Metab. 2023. PMID: 37027963 Free article.

4

Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension.

Luta X, Zanchi F, Fresa M, Porccedu E, Keller S, Bouchardy J, Déglise S, Qanadli SD, Kirsch M, Wuerzner G, Superti-Furga A, Buso G, Mazzolai L. Luta X, et al. Among authors: superti furga a. Orphanet J Rare Dis. 2024 Jun 7;19(1):227. doi: 10.1186/s13023-024-03231-9. Orphanet J Rare Dis. 2024. PMID: 38849913 Free PMC article.

5

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

van Heurck R, Hammar EB, Ville D, Lebon S, Chatron N, Marconi C, Royer-Bertrand B, Lesca G, Superti-Furga A, Abramowicz M, Korff C. van Heurck R, et al. Among authors: superti furga a. Eur J Paediatr Neurol. 2025 May;56:97-103. doi: 10.1016/j.ejpn.2025.04.014. Epub 2025 Apr 24. Eur J Paediatr Neurol. 2025. PMID: 40347601

6

Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience.

Sadiku F, Rutz T, Superti-Furga A, Monney P, Tran C. Sadiku F, et al. Among authors: superti furga a. Mol Genet Metab Rep. 2025 Apr 11;43:101216. doi: 10.1016/j.ymgmr.2025.101216. eCollection 2025 Jun. Mol Genet Metab Rep. 2025. PMID: 40276563 Free PMC article.

7

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M, Rehman AU, Quinodoz M, Rashid A, Cancellieri F, Munir A, Kaminska K, Iqbal A, Javed S, Dawood M, Baig HMA, Saleha S, Naz S, Kausar H, Waryah AM, Superti-Furga A, Ansar M, Rivolta C. Ullah M, et al. Among authors: superti furga a. NPJ Genom Med. 2025 Apr 4;10(1):31. doi: 10.1038/s41525-025-00488-2. NPJ Genom Med. 2025. PMID: 40180963 Free PMC article.

8

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Quinodoz M, Rutz S, Peter V, Garavelli L, Innes AM, Lehmann EF, Kellenberger S, Peng Z, Barone A, Campos-Xavier B, Unger S, Rivolta C, Dutzler R, Superti-Furga A. Quinodoz M, et al. Among authors: superti furga a. EMBO J. 2025 Jan;44(2):413-436. doi: 10.1038/s44318-024-00322-y. Epub 2024 Dec 2. EMBO J. 2025. PMID: 39623139 Free PMC article.

9

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Atallah I, Cisarova K, Guenot C, Dubruc E, Superti-Furga A, Campos-Xavier B, Unger S. Atallah I, et al. Among authors: superti furga a. Am J Med Genet A. 2025 Mar;197(3):e63920. doi: 10.1002/ajmg.a.63920. Epub 2024 Oct 29. Am J Med Genet A. 2025. PMID: 39473271

10

Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related.

Superti-Furga A, Unger S. Superti-Furga A, et al. 2011 Sep 1 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2011 Sep 1 [updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21882400 Free Books & Documents. Review.

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