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Ambry Genetics (United States) | Researchclopedia

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Ambry Genetics (United States)

Aliso Viejocompany

841

Works

112,205

Citations

155

h-index

Top Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Genetic factors in colorectal cancer

Top Researchers

Judy E. Garber Harvard University

969 works67,890 citationsh-index: 130

Recent Research

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

Sophie Allen,Charlie F Rowlands,et al.

20260 citations

Cancer Genomics and Diagnostics

Genomic variations and chromosomal abnormalities

Genetics and Neurodevelopmental Disorders

Genetic Associations and Epidemiology

CRISPR and Genetic Engineering

Nutrition, Genetics, and Disease

RNA modifications and cancer

DNA Repair Mechanisms

Cancer-related Molecular Pathways

Shuji Ogino Broad Institute

1,369 works65,736 citationsh-index: 132

Mark E. Robson Memorial Sloan Kettering Cancer Center

952 works58,461 citationsh-index: 115

Kyong Soo Park Seoul National University of Science and Technology

924 works54,839 citationsh-index: 100

Helena Teede Australian Regenerative Medicine Institute

936 works50,045 citationsh-index: 103

Robert Pilarski Ambry Genetics (United States)

175 works46,827 citationsh-index: 65

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

Sophie Allen,Charlie F Rowlands,et al.

20260 citations

Transient Neonatal Zinc Deficiency due to Maternal Variants in <scp> <i>SLC30A2</i> </scp> : An Emerging and Atypical Candidate Gene for Maternal Carrier Screening

C. Sue Carter,Danielle Luz,et al.

20260 citations

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions

Sami Belhadj,Christopher J. Hatch,et al.

20260 citations

Case Report With Biallelic Variants in <scp> <i>GCNT2</i> </scp> Implicates Exon <scp>1B</scp> in Congenital Cataracts

Audrey O'Neill,Cindy Bayer,et al.

20260 citations

Challenges and Errors in Genetic Testing: The Sixth Case Series

Meagan Farmer,Claire McDonald,et al.

20260 citations