K. Farwell

发表

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern

Sha Tang, K. Farwell, Z. Powis, 2015, Journal of Human Genetics.

ELP2 is a novel gene implicated in neurodevelopmental disabilities

A. Fatemi, E. Chao, S. Srivastava, 2015, American journal of medical genetics. Part A.

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.

S. Sommer, K. Hill, Jicheng Wang, 2003, Mutation research.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

P. Hulick, F. Bucciotti, C. Mroske, 2015, Human mutation.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Enhanced Detection of Longer Insertions and Deletions in Clinical Exome Sequencing Improves Diagnostic Yield

Jefferey Chen, D. Shinde, Sha Tang, 2015 .

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

S. Sommer, K. Hill, Jicheng Wang, 2004, Mutation research.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Donald G Basel, E. Chao, Sha Tang, 2015, Prenatal diagnosis.

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

Jefferey Chen, H. LaDuca, E. Chao, 2017, PloS one.

Mutation frequency is reduced in the cerebellum of Big Blue mice overexpressing a human wild type SOD1 gene.

S. Sommer, K. Hill, K. Farwell, 2001, Mutation research.