Researcher profile · Semantic Scholar

J. Neira

h-index: 9
Works: 29
Citations: 390

Most-cited papers

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Bo Yuan, J. Neira, D. Pehlivan, Teresa Santiago-Sim +43 more
2018Genetics in Medicine84 citations Open access
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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M. Baxter, J. Posey, N. Lake, N. Sobreira +238 more
2021medRxiv65 citations Open access
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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
T. Donti, G. Cappuccio, L. Hubert, J. Neira +10 more
2016Molecular Genetics and Metabolism Reports55 citations Open access
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
M. Chopra, Meriel E. Mcentagart, J. Clayton-Smith, K. Platzer +78 more
2021American Journal of Human Genetics33 citations Open access
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Post-partum cervical mucus: biological and rheological properties.
P. Vigil, A. Perez, J. Neira, P. Morales
1991Human Reproduction22 citations
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Frontiers in Congenital Disorders of Glycosylation Consortium, a Cross-sectional Study Report at Year 5 of 280 Individuals in the Natural History Cohort
Christina Lam, F. Scaglia, Gerard T. Berry, A. Larson +48 more
2024Molecular Genetics and Metabolism16 citations Open access
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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Sheng-Jia Lin, B. Vona, Tracy Lau, Kevin Huang +33 more
2023Genome Medicine11 citations Open access
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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Yue-Hua Huang, Rajesh Sharma, A. Feigenbaum, Chung U. Lee +11 more
2021Molecular Genetics and Metabolism Reports10 citations Open access
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Evaluation of secretory IgA childhood respiratory diseases.
M. Calvo, K. Grob, F. Marin, J. Bertoglio +3 more
1988Allergologia et Immunopathologia9 citations
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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy
Bo Yuan, J. Neira, Shen Gu, T. Harel +6 more
2016Human Genetics7 citations Open access
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[Seroepidemiological investigation of various tissue helminthiasis, by means of indirect hemagglutination test, in Lonquimay County, Chile].
F. Aliaga, C. M, Y. Mercado, H. Stegmeier +6 more
1994Boletin chileno de parasitologia2 citations
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Fracturas mandibulares en el servicio de otorrinolaringología y cirugía maxilofacial: experiencia en las características clínicas, diagnósticas y de tratamiento en el Hospital San José.
R. Pedraza, J. Borja, J. Neira, Katherine Prieto +1 more
20201 citations Open access
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P322: Beyond the panel: Expanding the differential diagnosis of congenital diarrhea in an individual with multiple congenital anomalies
J. Neira
2026Genetics in Medicine Open0 citations Open access
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Hypomorphic SCID Due to LIG4 Deficiency Not Detected on Newborn Screening
L. Samandi, Susan E. McClory, J. Neira, Julia Warren +1 more
2026Journal of Human Immunity0 citations Open access
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Sepiapterin approved for children and adults with phenylketonuria (PKU): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Irene J. Chang, Danny E. Miller, A. Corado, J. Neira
2026Genetics in Medicine Open0 citations Open access
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Diazoxide choline (Vykat XR) for treatment of hyperphagia and obesity in Prader-Willi syndrome: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Nadia Merchant, J. Neira, A. Derry, A. Gropman
2026Genetics in Medicine Open0 citations Open access
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DÚAS ESTELAS FUNERARIAS ROMANAS EN CASTENDA DA TORRE (A
J. Neira
2026Gallaecia revista de arqueoloxía e antigüidade0 citations Open access
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CHOLANGIOCARCINOMA, AN UNRECOGNIZED CANCER TYPE IN GSDIA?
Kristen Murphey, J. Neira, Caitlin Flatley
2023Molecular Genetics and Metabolism0 citations
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Scientific communication after the COVID-19 crisis: TikTok publishing strategies on the transmedia board
J. Neira
20220 citations
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A novel homozygous variant in TBCD in two patients of Guatemalan descent
H. Dennis, J. Neira, C. Ocampo, S. Verma +2 more
20210 citations
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Uso de Big Data en el clúster textil – confecciones de Medellín (Colombia) como herramienta de marketing.
Luis Carlos Martínez Betancur, J. Neira
20200 citations
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Análisis multitemporal mediante imágenes de sensores remotos para la identificación de bienes de uso público estudio de caso Ciénaga Real municipio de Campo de la Cruz departamento del Atlántico
J. Neira, David Alfonso
20180 citations
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Análisis de los efectos entre el comercio exterior y el mercado laboral, antes y después de la dolarización
J. Neira, Andrés Esteban Guzhñay Cordero
20170 citations
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The Role of Imaging in Acute Appendicitis among Children from a Community Hospital
Marsha Medows, Francis Tintani, J. Neira, Aimen Ben Ayad
20150 citations
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Fatty acids and cholesterol profile of 32 Ecuadorian diet dishes
J. Neira
20140 citations Open access
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Proteinograma sérico en personas de 23-42 años en la ciudad de Cuenca-Ecuador 2009-2010
J. Neira, Mirelly del Pilar Caicedo Quiroz
20100 citations
Semantic Scholar
Collective analysis of clinical histories in an Indian community
J. Ibacache, J. Neira, M. Migueles, R. Aliaga +2 more
20080 citations
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Health and indigenous peoples in Chile: A Social Medicine perspective
J. Neira
20080 citations
Semantic Scholar

Xiao-Fei Song

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