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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J. Groopman E, et al. Among authors: fernandez r. Mol Genet Metab. 2024 Nov;143(3):108593. doi: 10.1016/j.ymgme.2024.108593. Epub 2024 Oct 12. Mol Genet Metab. 2024. PMID: 39426251
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: fernandez r. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381 Free PMC article.
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S. Goldstein J, et al. Among authors: fernandez r. Mol Genet Metab. 2024 May;142(1):108362. doi: 10.1016/j.ymgme.2024.108362. Epub 2024 Mar 2. Mol Genet Metab. 2024. PMID: 38452609
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Vernet Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, Chen H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Yuzyuk T, Craigen WJ, Pinto E Vairo F. Vernet Machado Bressan Wilke M, et al. Among authors: fernandez r. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108572. doi: 10.1016/j.ymgme.2024.108572. Epub 2024 Sep 5. Mol Genet Metab. 2024. PMID: 39265286
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. Flowers M, et al. Among authors: fernandez r. Mol Genet Metab. 2023 Nov;140(3):107668. doi: 10.1016/j.ymgme.2023.107668. Epub 2023 Jul 26. Mol Genet Metab. 2023. PMID: 37549443 Free PMC article.
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J. Groopman E, et al. Among authors: fernandez r. medRxiv [Preprint]. 2024 Oct 20:2024.08.09.24311755. doi: 10.1101/2024.08.09.24311755. medRxiv. 2024. Update in: Mol Genet Metab. 2024 Nov;143(3):108593. doi: 10.1016/j.ymgme.2024.108593 PMID: 39211849 Free PMC article. Updated. Preprint.
Pulmonary aspiration after activated charcoal in unintentional acute poisonings in childhood.
Ramirez-Romero J, Cifuentes Zamalloa C, Elorza Elena A, Azkunaga B, Mintegi S; Surveillance System of the Intoxications Working Group of the Spanish Society of Pediatric Emergencies. Ramirez-Romero J, et al. Arch Dis Child. 2025 Jan 11:archdischild-2024-327478. doi: 10.1136/archdischild-2024-327478. Online ahead of print. Arch Dis Child. 2025. PMID: 39798953
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
2,775 results