MagalieLeducMD

PubMed

• 2 citations
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
  Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
• 2 citations
  Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
  Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie S. Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 29
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 16 citations
  Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
  Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz J. Sedlazeck, Simon D. M. White, Daniel J. Schaid, Mariza de Andrade, Gail P. Jarvik, David S. Crosslin...> ;Genetics in Medicine. 2019 Mar 20
• 8 citations
  ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Pa...> ;American Journal of Human Genetics. 2019 Feb 7
• 12 citations
  De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic ...
  Servi J. C. Stevens, Vyne van der Schoot, Magalie S. Leduc, Tuula Rinne, Seema R. Lalani, Marjan M. Weiss, Johanna M. van Hagen, Augusta M. A. Lachmeijer, Sylvia Stock...> ;Human Mutation. 2018 Jul 1
• 6 citations
  De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
  Magalie S. Leduc, Marianne McGuire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan J. Hayflick, Kory Keller, Christine M. Eng, Yaping Yang, Weimin Bi> ;Human Genetics. 2018 Mar 19
• 296 citations
  Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
  Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar L. Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patri...> ;JAMA Pediatrics. 2017 Dec 4
• 99 citations
  Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
  Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S. Leduc, Yaping Yang, Katie Bergstrom, Donald H. Mahoney, Deborah L. Sh...> ;The Journal of Clinical Investigation. 2017 Oct 3
• 28 citations
  Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
  Magalie S. Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar L. Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A. Bernstein, Christia...> ;American Journal of Medical Genetics. Part A. 2017 Aug 16
• 11 citations
  CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
  Magalie S. Leduc, Zhiyv Niu, Weimin Bi, Wenmiao Zhu, Irene Miloslavskaya, Theodore Chiang, Haley Streff, John R. Seavitt, Stephen A. Murray, Christine M. Eng, Audrey C...> ;American Journal of Medical Genetics. Part A. 2016 Jun 2
• 44 citations
  A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
  Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E. Kaye, Jun Liao, Jill A. Rosenfeld, Naomi Yachelevich, Mary Lynn Chu, Wendy G....> ;Plos Genetics. 2016 Apr 27
• 78 citations
  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y....> ;American Journal of Human Genetics. 2016 Feb 4
• 51 citations
  De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
  Lindsay C. Burrage, Wu Lin Charng, Mohammad K. Eldomery, Jason R. Willer, Erica E. Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S. Leduc, Zeynep Coban Akdemir, Mahsh...> ;American Journal of Human Genetics. 2015 Dec 3
• 980 citations
  Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
  Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard E. Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian J. Buhay, Narayanan Veeraraghavan, ...> ;JAMA. 2014 Nov 12
• A major X-linked locus affects kidney function in mice
  Magalie S. Leduc, Holly S. Savage, Tim Stearns, Clinton L. Cario, Kenneth Walsh, Beverly Paigen, Annerose Berndt> ;Molecular Genetics and Genomics. 2012 Sep 26
• 22 citations
  Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice
  Magalie S. Leduc, Rachael S. Hageman, Ricardo A. Verdugo, Shirng-Wern Tsaih, Kenneth Walsh, Gary A. Churchill, Beverly Paigen> ;Journal of Lipid Research. 2011 Sep 1
• 10 citations
  Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA
  Magalie S. Leduc, Lawrence C. Shimmin, Kathy L.E. Klos, Craig L. Hanis, Eric Boerwinkle, James E. Hixson> ;Journal of Lipid Research. 2008 Dec 1
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