J. Schleit

发表

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

Desiree A Marshall, Caitlin S. Latimer, L. Gonzalez-Cuyar, 2018, Neuromuscular Disorders.

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen

P. Byers, U. Schwarze, Samuel Bailey, 2015, Human mutation.

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

M. Dorschner, Kelly D. Smith, F. Hisama, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

D. Nickerson, M. Dorschner, K. Goddard, 2018, American journal of human genetics.

Correction: Corrigendum: Transcription errors induce proteotoxic stress and shorten cellular lifespan

Matt Kaeberlein, Chao-Wei Hung, K. J. Wolfe, 2015, Nature Communications.

Stress profiling of longevity mutants identifies Afg3 as a mitochondrial determinant of cytoplasmic mRNA translation and aging

Christopher J. Murakami, B. Kennedy, M. Kaeberlein, 2013, Aging cell.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

M. Gentile, T. Heliö, S. Tuupanen, 2021, BMC Cardiovascular Disorders.

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

T. Ojala, M. Gentile, S. Ahonen, 2021, PloS one.

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

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Molecular mechanisms underlying genotype‐dependent responses to dietary restriction

Brady Olsen, Christopher J. Murakami, Matt Kaeberlein, 2013, Aging cell.

First, do no harm: direct-to-consumer genetic testing

Fuki M. Hisama, F. Hisama, Jennifer Schleit, 2018, Genetics in Medicine.

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

D. Sillence, M. Dorschner, D. Lessel, 2018, Molecular genetics & genomic medicine.

End-of-life cell cycle arrest contributes to stochasticity of yeast replicative aging.

Christopher J. Murakami, B. Kennedy, M. Kaeberlein, 2013, FEMS yeast research.

Elevated Proteasome Capacity Extends Replicative Lifespan in Saccharomyces cerevisiae

Christopher J. Murakami, Matt Kaeberlein, Daniel Carr, 2011, PLoS genetics.

A Comprehensive Analysis of Replicative Lifespan in 4,698 Single-Gene Deletion Strains Uncovers Conserved Mechanisms of Aging.

Christopher J. Murakami, Mark A. McCormick, D. Lockshon, 2015, Cell metabolism.

Analysis of nucleic acid binding by a recombinant translin-trax complex.

J. Robertus, W. Hoe, J. Schleit, 2010, Biochemical and biophysical research communications.

pH neutralization protects against reduction in replicative lifespan following chronological aging in yeast

Christopher J. Murakami, M. Kaeberlein, Mollie Holmberg, 2012, Cell cycle.

Sir2 deletion prevents lifespan extension in 32 long‐lived mutants

Christopher J. Murakami, D. Lockshon, B. Kennedy, 2011, Aging cell.

Dietary restriction and mitochondrial function link replicative and chronological aging in Saccharomyces cerevisiae

Christopher J. Murakami, M. Kaeberlein, Mollie Holmberg, 2013, Experimental Gerontology.

Transcription errors induce proteotoxic stress and shorten cellular lifespan

K. J. Wolfe, J. Strathern, M. Kaeberlein, 2015, Nature Communications.

Yeast as a model to understand the interaction between genotype and the response to calorie restriction

M. Kaeberlein, Brian M. Wasko, J. Schleit, 2012, FEBS letters.

The MDT-15 Subunit of Mediator Interacts with Dietary Restriction to Modulate Longevity and Fluoranthene Toxicity in Caenorhabditis elegans

M. Kaeberlein, Marissa Simko, Valerie Z. Wall, 2011, PloS one.

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic‐restrictive cardiomyopathy

Y. Bossé, N. Gaudreault, P. Lagüe, 2023, American journal of medical genetics. Part A.

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

E. Sankila, S. Tuupanen, S. Myllykangas, 2022, Translational vision science & technology.

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy

U. Brinkmann, B. Mendelsohn, S. Tuupanen, 2020, European Journal of Human Genetics.

First, do no harm: direct-to-consumer genetic testing

F. Hisama, Lorraine V. Naylor, J. Schleit, 2018, Genetics in Medicine.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Marian J. Gilmore, D. Nickerson, M. Dorschner, 2018, American journal of human genetics.

Sir2 deletion prevents lifespan extension in 32 long‐lived mutants

Christopher J. Murakami, D. Lockshon, B. Kennedy, 2011, Aging cell.