Nancy B Spinner

7PUBLICATIONS
37CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthClinical nutritionMedical biotechnology diagnostics (incl. biosensors)Information systems development methodologies and practice
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Publications (7)

|Oct 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew

|Feb 19, 2020
Exome Sequencing in Individuals with Isolated Biliary Atresia.

Ramakrishnan Rajagopalan, Ellen A Tsai, Christopher M Grochowski

|Jan 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Melissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan

|Jul 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Melissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan

|Feb 27, 2019
Expanded non-invasive prenatal diagnostics.

Nancy B Spinner, Ian D Krantz

|Nov 05, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola

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Frequent Collaborators

2 joint publications

Sharon E Plon

1 joint publications

Sarah Bowdin

1 joint publications

Adel Gilbert

1 joint publications

Emma Bedoukian