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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns B, Burns NJ, Chandrasekhar A, Chawla A, Chong J, Chopra M, Clause A, DiStefano M, DiTroia S, Elnagheeb M, Girod A, Goel H, Golden-Grant K, Ha T, Hamosh A, Huang J, Hughes M, Jamuar S, Kam S, Kesari A, Koh AL, Lassiter R, Leigh S, Lemire G, Lim JY, Malhotra A, McCurry H, Milewski B, Moosa S, Murray S, Owens E, Palmer E, Palus B, Patel M, Rajkumar R, Ratliff J, Raymond FL, Assis BDRR, Sajan S, Schlachetzki Z, Schmidt S, Stark Z, Strom S, Taylor J, Thaxton C, Thrush D, Toro S, Tshering K, Vasilevsky N, Wayburn B, Webb R, O'Donnell-Luria A, Coffey AJ. Broeren E, et al. Among authors: sajan s. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.
Comparative efficacy of volume expansion, inotropes and vasopressors in preterm neonates with probable transitional circulatory instability in the first week of life: a systematic review and network meta-analysis.
Ramaswamy VV, Kumar G, Abdul Kareem P, Somasekhara Aradhya A, Suryawanshi P, Sahni M, Khurana S, Sharma D, More K; National Neonatal Forum, India; Clinical Practice Guidelines Group 2023. Ramaswamy VV, et al. BMJ Paediatr Open. 2024 May 20;8(1):e002500. doi: 10.1136/bmjpo-2024-002500. BMJ Paediatr Open. 2024. PMID: 38769048 Free PMC article.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Eur J Hum Genet. 2024 Aug;32(8):912-919. doi: 10.1038/s41431-024-01600-3. Epub 2024 Apr 2. Eur J Hum Genet. 2024. PMID: 38565639 Free PMC article.
Colistin disposition in the cerebrospinal fluid when administered either intravenously alone or with intraventricular/intrathecally in neonates/pediatric patients with culture-proven meningitis.
Bhandari RK, Pandey AK, Shafiq N, Kumar J, Malhotra S, Mothsara C, Sajan S, Gautam V, Ray P, Sankhyan N, Dutta S, Kumar P, Patial A, Attri S. Bhandari RK, et al. Among authors: sajan s. Pediatr Neonatol. 2022 Mar;63(2):190-191. doi: 10.1016/j.pedneo.2021.07.012. Epub 2022 Jan 20. Pediatr Neonatol. 2022. PMID: 35148977 Free article. No abstract available.
38 results