Christa L Martin

发表

Using ClinVar as a Resource to Support Variant Interpretation

Annie Niehaus, Heidi L Rehm, Danielle R Azzariti, 2016, Current protocols in human genetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Jianxin Shi, Susmita Datta, Aribert Rothenberger, 2013, Nature Genetics.

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Stephen T Warren, Christa L Martin, S. Spence, 2007, Human molecular genetics.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Heidi L Rehm, Jonathan S Berg, Leslie G Biesecker, 2017, Genetics in Medicine.

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

Christa L Martin, D. Ledbetter, C. Martin, 2008, Genetics in Medicine.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R Riggs, Christa L Martin, E. Thorland, 2018, Human mutation.