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A Bayesian Framework for Inference of the Genotype-Phenotype Map for Segregating Populations.
Published in:
Genetics, 2011, v. 187, n. 4, p. 1163, doi. 10.1534/genetics.110.123273
By:
- Hageman, Rachael S.;
- Leduc, Magalie S.;
- Korstanje, Ron;
- Paigen, Beverly;
- Churchill, Gary A.
Publication type:
Article
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1792
By:
- Wang, Lei;
- Liu, Pengfei;
- Bi, Weimin;
- Sim, Teresa;
- Wang, Xia;
- Walkiewicz, Magdalene;
- Leduc, Magalie Sophie;
- Meng, Linyan;
- Xia, Fan;
- Eng, Christine M.;
- Yang, Yaping;
- Yuan, Bo;
- Dai, Hongzheng
Publication type:
Article
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
Published in:
Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1007, doi. 10.1007/s10038-008-0334-7
By:
- Dong-chuan Guo;
- Gupta, Prateek;
- Tran-Fadulu, Van;
- Guidry, Tera V.;
- Leduc, Magalie S.;
- Schaefer, Frederick V.;
- Milewicz, Dianna M.
Publication type:
Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
By:
- Leduc, Magalie S.;
- Chao, Hsiao‐Tuan;
- Qu, Chunjing;
- Walkiewicz, Magdalena;
- Xiao, Rui;
- Magoulas, Pilar;
- Pan, Shujuan;
- Beuten, Joke;
- He, Weimin;
- Bernstein, Jonathan A.;
- Schaaf, Christian P.;
- Scaglia, Fernando;
- Eng, Christine M.;
- Yang, Yaping
Publication type:
Article
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780
By:
- Leduc, Magalie S.;
- Niu, Zhiyv;
- Bi, Weimin;
- Zhu, Wenmiao;
- Miloslavskaya, Irene;
- Chiang, Theodore;
- Streff, Haley;
- Seavitt, John R.;
- Murray, Stephen A.;
- Eng, Christine;
- Chan, Audrey;
- Yang, Yaping;
- Lalani, Seema R.
Publication type:
Article
A major X-linked locus affects kidney function in mice.
Published in:
Molecular Genetics & Genomics, 2012, v. 287, n. 11/12, p. 845, doi. 10.1007/s00438-012-0720-x
By:
- Leduc, Magalie;
- Savage, Holly;
- Stearns, Timothy;
- Cario, Clinton;
- Walsh, Kenneth;
- Paigen, Beverly;
- Berndt, Annerose
Publication type:
Article
De novo apparent loss-of-function mutations in <italic>PRR12</italic> in three patients with intellectual disability and iris abnormalities.
Published in:
Human Genetics, 2018, v. 137, n. 3, p. 257, doi. 10.1007/s00439-018-1877-0
By:
- Leduc, Magalie S.;
- Mcguire, Marianne;
- Madan-Khetarpal, Suneeta;
- Ortiz, Damara;
- Hayflick, Susan;
- Keller, Kory;
- Eng, Christine M.;
- Yang, Yaping;
- Bi, Weimin
Publication type:
Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
By:
- Ernst, Michelle E.;
- Baugh, Evan H.;
- Thomas, Amanda;
- Bier, Louise;
- Lippa, Natalie;
- Stong, Nicholas;
- Mulhern, Maureen S.;
- Kushary, Sulagna;
- Akman, Cigdem I.;
- Heinzen, Erin L.;
- Yeh, Raymond;
- Bi, Weimin;
- Hanchard, Neil A.;
- Burrage, Lindsay C.;
- Leduc, Magalie S.;
- Chong, Josephine S. C.;
- Bend, Renee;
- Lyons, Michael J.;
- Lee, Jennifer A.;
- Suwannarat, Pim
Publication type:
Article
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Published in:
2017
By:
- Carapito, Raphael;
- Konantz, Martina;
- Paillard, Catherine;
- Zhichao Miao;
- Pichot, Angélique;
- Leduc, Magalie S.;
- Yaping Yang;
- Bergstrom, Katie L.;
- Mahoney, Donald H.;
- Shardy, Deborah L.;
- Alsaleh, Ghada;
- Naegely, Lydie;
- Kolmer, Aline;
- Paul, Nicodème;
- Hanauer, Antoine;
- Rolli, Véronique;
- Müller, Joëlle S.;
- Alghisi, Elisa;
- Sauteur, Loïc;
- Macquin, Cécile
Publication type:
journal article
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
By:
- Posey, Jennifer E.;
- Rosenfeld, Jill A.;
- Jiang, Yunyun;
- Darilek, Sandra A.;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Hanchard, Neil;
- Belmont, John W.;
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Chen, Shan;
- Lee, Yi‐Chien;
- Lee, Brendan;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Moretti, Paolo;
- Wang, Xia;
- Leduc, Magalie S.;
- Walkiewicz, Magdalena A.;
- Bi, Weimin
Publication type:
Article
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.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
By:
- Stevens, Servi J. C.;
- van der Schoot, Vyne;
- Leduc, Magalie S.;
- Rinne, Tuula;
- Lalani, Seema R.;
- Weiss, Marjan M.;
- van Hagen, Johanna M.;
- Lachmeijer, Augusta M. A.;
- CAUSES Study;
- Stockler‐Ipsiroglu, Sylvia G.;
- Lehman, Anna;
- Brunner, Han G.
Publication type:
Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
By:
- Yaping Yang;
- Muzny, Donna M.;
- Fan Xia;
- Zhiyv Niu;
- Person, Richard;
- Yan Ding;
- Ward, Patricia;
- Braxton, Alicia;
- Min Wang;
- Buhay, Christian;
- Veeraraghavan, Narayanan;
- Hawes, Alicia;
- Chiang, Theodore;
- Leduc, Magalie;
- Beuten, Joke;
- Jing Zhang;
- Weimin He;
- Scull, Jennifer;
- Willis, Alecia;
- Landsverk, Megan
Publication type:
Article
Identification of genetic determinants of IGF-1 levels and longevity among mouse inbred strains.
Published in:
Aging Cell, 2010, v. 9, n. 5, p. 823, doi. 10.1111/j.1474-9726.2010.00612.x
By:
- Leduc, Magalie S.;
- Hageman, Rachael S.;
- Qingying Meng;
- Verdugo, Ricardo A.;
- Shirng-Wern Tsaih;
- Churchill, Gary A.;
- Paigen, Beverly;
- Rong Yuan
Publication type:
Article
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
Published in:
PLoS Genetics, 2016, v. 12, n. 4, p. 1, doi. 10.1371/journal.pgen.1005848
By:
- Zhang, Jinglan;
- Lachance, Véronik;
- Schaffner, Adam;
- Li, Xianting;
- Fedick, Anastasia;
- Kaye, Lauren E.;
- Liao, Jun;
- Rosenfeld, Jill;
- Yachelevich, Naomi;
- Chu, Mary-Lynn;
- Mitchell, Wendy G.;
- Boles, Richard G.;
- Moran, Ellen;
- Tokita, Mari;
- Gorman, Elizabeth;
- Bagley, Kaytee;
- Zhang, Wei;
- Xia, Fan;
- Leduc, Magalie;
- Yang, Yaping
Publication type:
Article

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