List of works - Emily Spencer

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.

scientific article

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

scientific article

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

scientific article published on 18 July 2016

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.

scientific article published on 20 July 2018

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

scientific article published on 5 May 2011

Molecular Autopsy for Sudden Unexpected Death.

scientific article

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

scientific article published on 7 January 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Novel STAMBP mutation and additional findings in an Arabic family

scientific article published on 18 February 2015

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Returning Results to Family Members: Professional Duties in Genomics Research in the United States

scientific article published on 01 April 2018

Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study.

scientific article

Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

scientific article published in September 2022

Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission

preprint

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

scientific article

List of works by Emily Spencer

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Molecular Autopsy for Sudden Unexpected Death.

Mutations in CSPP1 lead to classical Joubert syndrome

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

Novel STAMBP mutation and additional findings in an Arabic family

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Returning Results to Family Members: Professional Duties in Genomics Research in the United States

Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study.

Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia