Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: matalonga l. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D. Natera-de Benito D, et al. Among authors: matalonga l. Pediatr Neurol. 2024 Aug;157:5-13. doi: 10.1016/j.pediatrneurol.2024.04.027. Epub 2024 May 9. Pediatr Neurol. 2024. PMID: 38833907
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: matalonga l. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
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 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. 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;11(3):647-653. doi: 10.3233/JND-230216. J Neuromuscul Dis. 2024. PMID: 38489196 Free PMC article.
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 Free PMC article.
54 results