Reducing the Noise in Behavioral Assays: Sex and Age in Adult Zebrafish Locomotion

le Philpott, Catelyn, Donack, Corey J., Cousin, Margot A., Pierret, Chris
Foilsithe 2012

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

le Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Foilsithe in Front Genet (2018)

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

le Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Foilsithe in Bioinformatics (2020)

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

le Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Foilsithe in Mol Genet Genomic Med (2020)

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation...

le Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Foilsithe in PLoS One (2017)

The Value of Systematic Reviews in Estimating the Cost and Barriers to Translation in Tissue Engineering

le Cousin, Margot A., Greenberg, Alexandra J., Koep, Tyler H., Angius, Diana, Yaszemski, Michael J., Spinner, Robert J., Windebank, Anthony J.
Foilsithe in Tissue Eng Part B Rev (2016)

Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment

le Cousin, Margot A., Ebbert, Jon O., Wiinamaki, Amanda R., Urban, Mark D., Argue, David P., Ekker, Stephen C., Klee, Eric W.
Foilsithe 2014

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

le Zimmermann, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen, Atwal, Paldeep S.
Foilsithe in Case Rep Genet (2017)

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I

le Zepeda-Mendoza, Cinthya J., Cousin, Margot A., Basu, Shubham, Jenkinson, Garrett, Oliver, Gavin, Pittock, Siobhan T., Baughn, Linda B., Klee, Eric W., Babovic-Vuksanovic, Dusica
Foilsithe in Cold Spring Harb Mol Case Stud (2019)

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

le Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Foilsithe in Mol Genet Genomic Med (2017)

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

le Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic‐Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.
Foilsithe in Mol Genet Genomic Med (2017)

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

le Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.
Foilsithe in Cold Spring Harb Mol Case Stud (2017)

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

le Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Foilsithe in Mol Genet Genomic Med (2017)

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

le Boczek, Nicole J., Sigafoos, Ashley N., Zimmermann, Michael T., Maus, Rachel L., Cousin, Margot A., Blackburn, Patrick R., Urrutia, Raul, Clark, Karl J., Patterson, Marc C., Wick, Myra J., Klee, Eric W.
Foilsithe in Clin Case Rep (2016)

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypic...

le Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul A., Lomberk, Gwen A., Kruisselbrink, Teresa, Cousin, Margot A., Boczek, Nicole J., Hoppman, Nicole L., Babovic-Vuksanovic, Dusica, Klee, Eric W., Pichurin, Pavel N.
Foilsithe in Cold Spring Harb Mol Case Stud (2018)

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

le Blackburn, Patrick R., Zimmermann, Michael T., Gass, Jennifer M., Harris, Kimberly G., Cousin, Margot A., Boczek, Nicole J., Ross, Owen A., Klee, Eric W., Brazis, Paul W., Van Gerpen, Jay A., Atwal, Paldeep S.
Foilsithe in BMC Med Genet (2016)

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessme...

le Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric W., Pichurin, Pavel N.
Foilsithe in Cold Spring Harb Mol Case Stud (2017)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

le Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos N., Babovic-Vuksanovic, Dusica, Klee, Eric W.
Foilsithe in Mol Genet Metab Rep (2017)

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

le Oliver, Gavin R., Tang, Xiaojia, Schultz-Rogers, Laura E., Vidal-Folch, Noemi, Jenkinson, W. Garrett, Schwab, Tanya L., Gaonkar, Krutika, Cousin, Margot A., Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W.
Foilsithe in PLoS One (2019)

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

le Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.
Foilsithe in J Biol Chem (2017)