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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 3
2013 4
2014 2
2015 2
2016 3
2017 3
2019 3
2020 5
2021 14
2022 8
2023 6
2024 4

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47 results

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Page 1
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: matalonga l. Neuromuscul Disord. 2024 Mar 22;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Online ahead of print. Neuromuscul Disord. 2024. PMID: 38669730
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D. Estévez-Arias B, et al. Among authors: matalonga l. J Neuromuscul Dis. 2024 Mar 10. doi: 10.3233/JND-230216. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 38489196
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Lagorce D, et al. Among authors: matalonga l. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926714 Free PMC article.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: matalonga l. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Corvò A, Matalonga L, Spalding D, Senf A, Laurie S, Picó-Amador D, Fernandez-Callejo M, Paramonov I, Romero AF, Garcia-Rios E, Ciges JI, Mohan A, Thomas C, Silva Valencia AF, Halmagyi C, Freeberg MA, Töpf A, Horvath R, Saunders G, Gut I, Keane T, Piscia D, Beltran S. Corvò A, et al. Among authors: matalonga l. Cell Genom. 2023 Jan 11;3(2):100246. doi: 10.1016/j.xgen.2022.100246. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819661 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: matalonga l. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. Rebelo AP, et al. Among authors: matalonga l. Genet Med. 2022 Dec;24(12):2487-2500. doi: 10.1016/j.gim.2022.08.019. Epub 2022 Sep 22. Genet Med. 2022. PMID: 36136088 Free article.
47 results