M. Leduc

发表

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Magalie S Leduc, J. Lupski, R. Gibbs, 2013, The New England journal of medicine.

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Magalie S Leduc, D. Milewicz, M. Leduc, 2008, Journal of Human Genetics.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice[S]

Magalie S Leduc, G. Churchill, M. Leduc, 2011, Journal of Lipid Research.

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

Magalie S Leduc, Ankita Patel, C. Shaw, 2014, Clinical and experimental immunology.

Family-Based Next-Generation Sequencing Analysis

Magalie S Leduc, M. Leduc, Linyan Meng, 2017 .

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

A major X-linked locus affects kidney function in mice

M. Leduc, Clinton L. Cario, B. Paigen, 2012, Molecular Genetics and Genomics.

A Bayesian Framework for Inference of the Genotype–Phenotype Map for Segregating Populations

Ron Korstanje, Magalie S Leduc, G. Churchill, 2011, Genetics.

Uncovering genes and regulatory pathways related to urinary albumin excretion.

Magalie S Leduc, G. Churchill, R. Korstanje, 2011, Journal of the American Society of Nephrology : JASN.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol[S]

Magalie S Leduc, S. Kathiresan, M. Orho-Melander, 2011, Journal of Lipid Research.

patient-oriented and epidemiological research Comprehensive evaluation of apolipoprotein H gene ( APOH ) variation identifies novel associations with measures of lipid metabolism in GENOA Comprehensive evaluation of apolipoprotein H gene ( APOH ) variation identifies novel associations with measures

E. Boerwinkle, M. Leduc, J. Hixson, 2008 .

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Yaping Yang, F. Xia, M. Leduc, 2021, Molecular genetics & genomic medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Frequency of genomic incidental findings among 21,915 eMERGE network participants

Magalie S Leduc, Marc S. Williams, N. Lennon, 2020, Genetics in Medicine.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.

Sequence variation at multiple loci influences red cell hemoglobin concentration.

Magalie S Leduc, G. Churchill, A. Lambert, 2010, Blood.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Magalie S Leduc, D. Goldstein, E. van Binsbergen, 2021, Epilepsia.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Magalie S Leduc, Yaping Yang, J. Beuten, 2017, American journal of medical genetics. Part A.

Identification of genetic determinants of IGF‐1 levels and longevity among mouse inbred strains

Qingying Meng, Rong Yuan, Magalie S Leduc, 2010, Aging cell.

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Yaping Yang, M. Leduc, C. Eng, 2018, Human Genetics.

Exome Sequencing in the Clinical Setting

Magalie S Leduc, Yaping Yang, M. Leduc, 2017 .

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ × SM/J intercross[S]

Magalie S Leduc, G. Churchill, M. Leduc, 2012, Journal of Lipid Research.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Magalie S Leduc, J. Rosenfeld, R. Schiffmann, 2016, PLoS genetics.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Untangling HDL quantitative trait loci on mouse chromosome 5 and identifying Scarb1 and Acads as the underlying genes

Magalie S Leduc, R. Korstanje, M. Leduc, 2010, Journal of Lipid Research.