Lindsay C Burrage

发表

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

W. Craigen, V. Sutton, B. Graham, 2017, Molecular genetics and metabolism.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2009 .

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

S. Lalani, Hsiao-Tuan Chao, C. Bacino, 2024, American journal of human genetics.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

W. Craigen, E. Lose, S. Elsea, 2015, Molecular genetics and metabolism.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

M. Wangler, Paul C. Marcogliese, Hyung-Lok Chung, 2020, Neuron.

De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects

Lauren S Blieden, S. Lalani, B. Mandriani, 2024, medRxiv.

A Global Slc7a7 Knockout Mouse Model Demonstrates Characteristic Phenotypes of Human Lysinuric Protein Intolerance.

Denise G. Lanza, Jennie R. Green, Jason D. Heaney, 2020, Human molecular genetics.

Maternal folate polymorphisms and the etiology of human nondisjunction.

S. Schwartz, N. S. Thomas, P. Jacobs, 2001, American journal of human genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

W. Craigen, V. Sutton, F. Scaglia, 2019, Molecular genetics and metabolism.