J. Neira

发表

The Role of Imaging in Acute Appendicitis among Children from a Community Hospital

Marsha Medows, Francis Tintani, J. Neira, 2015 .

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

J. Lupski, P. Liu, T. Harel, 2016, Human Genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Lisa T. Emrick, Michael F. Wangler, V. Sutton, 2016, Molecular genetics and metabolism reports.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Post-partum cervical mucus: biological and rheological properties.

P. Morales, P. Vigil, J. Neira, 1991, Human Reproduction.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

R. Maroofian, R. Abou Jamra, G. Varshney, 2023, Genome Medicine.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

S. Cederbaum, C. Rowland, P. Tanpaiboon, 2021, Molecular genetics and metabolism reports.