Avni Santani

发表

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Mahdi Sarmady, Rashesh V. Sanghvi, Christian J. Buhay, 2017, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Eric Marsh, 2018, Genetics in Medicine.

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

Jonathan Schug, Avni Santani, Xiaowu Gai, 2011, BMC Bioinformatics.

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Birgit Funke, Matthew S. Lebo, Avni Santani, 2019, The Journal of molecular diagnostics : JMD.

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Avni Santani, Rong Mao, Madhuri Hegde, 2017, Archives of pathology & laboratory medicine.

Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders

Mahdi Sarmady, Avni Santani, Kajia Cao, 2015, American journal of medical genetics. Part A.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Birgit Funke, Avni Santani, Rong Mao, 2017, Archives of pathology & laboratory medicine.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Birgit Funke, Matthew S. Lebo, Avni Santani, 2016, Genetics in Medicine.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, American journal of human genetics.