Britt Johnson

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Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type I

O. Bodamer, Britt Johnson, Angéla Dajnoki, 2015, Current protocols in human genetics.

Diagnosis of Lysosomal Storage Disorders: Gaucher Disease

O. Bodamer, Britt Johnson, Angéla Dajnoki, 2014, Current protocols in human genetics.

Diagnosing Lysosomal Storage Disorders: Fabry Disease

O. Bodamer, Britt Johnson, Angéla Dajnoki, 2013, Current protocols in human genetics.

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

R. Truty, S. Aradhya, S. Bristow, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment

J. Orange, R. Truty, S. Aradhya, 2020, Immunologic research.

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

R. Truty, S. Aradhya, K. Nykamp, 2022, American journal of medical genetics. Part A.

Tyrosinase Is the Modifier of Retinoschisis in Mice

E. Geisert, B. Cole, A. Ikeda, 2010, Genetics.

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene

L. Pinto, A. Ikeda, S. Ikeda, 2006, Visual Neuroscience.

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model

A. Siddiqi, T. Yuzyuk, O. Bodamer, 2014, European Journal of Human Genetics.

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

S. Daugherty, R. Truty, M. Econs, 2021, Human mutation.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

R. Nussbaum, T. Callis, M. Vatta, 2022, JAMA cardiology.

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

G. Carvill, R. Nussbaum, R. Sankar, 2019, Epilepsia open.

Scalable detection of technically challenging variants through modified next‐generation sequencing

Joshua S. Paul, Daniel J. Kvitek, M. Kennemer, 2022, Molecular genetics & genomic medicine.

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

J. Orange, S. Aradhya, Britt Johnson, 2022, Frontiers in Immunology.

STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection

M. Mirsaeidi, Britt Johnson, M. S. Gonzalez‐Mancera, 2020, Respiratory medicine case reports.

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Y. Chien, W. Hwu, O. Bodamer, 2013, Annals of laboratory medicine.

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.

J. Naggert, M. Krebs, B. Chang, 2015, Investigative ophthalmology & visual science.

The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

J. Heckenlively, D. Rice, M. McCall, 2006, Visual Neuroscience.

Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum

J. Naggert, T. Maddatu, A. Ikeda, 2007, Molecular and Cellular Neuroscience.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

E. Wirrell, R. Sankar, R. Truty, 2022, Epilepsia.

Sequencing of the IL6 gene in a case–control study of cerebral palsy in children

Yvonne W Wu, S. Baranzini, P. Khankhanian, 2013, BMC Medical Genetics.

Title Sequencing of the IL 6 gene in a case ¿ control study of cerebral palsy in children Permalink

Yvonne W Wu, S. Baranzini, P. Khankhanian, 2013 .

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

A. Rosenberg, J. Trent, O. Bodamer, 2015, PloS one.

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families

S. Hauser, J. Oksenberg, S. Caillier, 2011, Annals of neurology.

Multiple sclerosis susceptibility alleles in African Americans

P. D. De Jager, A. Cross, J. Herbert, 2009, Genes and Immunity.

The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD

Asia D. Mitchell, S. Aradhya, Alexander R. Chang, 2022, Kidney360.

Genetic Modification of the Schisis Phenotype in a Mouse Model of X-Linked Retinoschisis

N. Aoyama, A. Ikeda, S. Ikeda, 2008, Genetics.

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

R. Truty, S. Aradhya, S. Bristow, 2021, Frontiers in Neurology.

Prioritizing genes for systematic variant effect mapping

Frederick P. Roth, Keith Nykamp, Jochen Weile, 2020, Bioinform..

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

S. Aradhya, F. Cortés, R. Sorensen, 2020, American journal of medical genetics. Part A.

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.

M. Kennemer, C. Kautzer, R. Nussbaum, 2023, American journal of human genetics.

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry

O. Bodamer, J. Orsini, Britt Johnson, 2012, Annals of laboratory medicine.