Christa Lese Martin

发表

International Standardised Cytogenomic Array (ISCA) Consortium : an approach to the design, implementation and reporting of constitutional oligo array-cgh

Joris Vermeesch, David H. Ledbetter, John A. Crolla, 2009 .

A web-based educational program to support the updated ACMG/ ClinGen technical standards for constitutional copy number variant classification

Deborah I. Ritter, Erin Rooney Riggs, Swaroop Aradhya, 2021 .

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

Eric M. Morrow, Shrikant M. Mane, Edwin H. Cook, 2015, Biological Psychiatry.

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Christa Lese Martin, D. Geschwind, E. Cook, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

ClinGen--the Clinical Genome Resource.

Heidi L Rehm, Jonathan S Berg, Stephen T Sherry, 2015, The New England journal of medicine.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Anibal Gutierrez, Robert T. Schultz, Nicholas Carriero, 2018, Neuron.

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Erin Rooney Riggs, Danielle R Azzariti, Heidi Rehm, 2015, Human mutation.

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Kathryn Roeder, Murim Choi, Eric M. Morrow, 2011, Neuron.

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.

Thomas Ried, Christa Lese Martin, C. Martin, 2008, Oral oncology.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Rita M Cantor, Stephan J Sanders, Christa Lese Martin, 2016, American journal of human genetics.

Microarray analysis for constitutional cytogenetic abnormalities

Christa Lese Martin, Lisa G Shaffer, L. Shaffer, 2007, Genetics in Medicine.

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Darlene Riethmaier, Erin Rooney Riggs, Heidi L Rehm, 2013, Human mutation.

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.

Common genetic variants, acting additively, are a major source of risk for autism

Kathryn Roeder, Timothy W Yu, Bernie Devlin, 2012, Molecular Autism.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Sheri D Schully, Katrina A B Goddard, Alan F Scott, 2016, Genetics in Medicine.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Marylyn D. Ritchie, Alan R. Shuldiner, Jeffrey Staples, 2017, bioRxiv.

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

Kevin A. Pelphrey, Ellen M. Wijsman, Zachary Warren, 2012 .

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, Nature Neuroscience.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.

Christa Lese Martin, D. Ledbetter, C. Martin, 2016, JAMA psychiatry.

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

William B Dobyns, Christa Lese Martin, C. Martin, 2010, European Journal of Human Genetics.

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Heidi L. Rehm, Danielle R. Azzariti, Erin Rooney Riggs, 2018, Genetics in Medicine.