List of works - Nancy B Spinner

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

scientific article

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

scientific article

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

scientific article published on 26 August 2019

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

scientific article published on 24 December 2015

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

scientific article

Exome Sequencing in Individuals with Isolated Biliary Atresia

scientific article published on 17 February 2020

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

scientific article published on 03 March 2015

Expanded non-invasive prenatal diagnostics

scientific article published on 01 March 2019

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

scientific article published on 20 October 2020

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

scientific article published on 21 April 2015

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

scientific article published on 10 July 2009

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

scientific article

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

scientific article published on 16 January 2020

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

scientific article published on 09 October 2013

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

scientific article published on 26 May 2016

List of works by Nancy B Spinner

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

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

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Exome Sequencing in Individuals with Isolated Biliary Atresia

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Expanded non-invasive prenatal diagnostics

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

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

Recommendations for the integration of genomics into clinical practice

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome