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Items: 26

1.

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

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.

Genet Med. 2019 Mar 20. doi: 10.1038/s41436-019-0475-4. [Epub ahead of print]

PMID:
30890783
2.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

3.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

4.

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.

Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA; CAUSES Study, Stockler-Ipsiroglu SG, Lehman A, Brunner HG.

Hum Mutat. 2018 Jul;39(7):1014-1023. doi: 10.1002/humu.23541. Epub 2018 May 10.

PMID:
29688601
5.

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

Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W.

Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19.

PMID:
29556724
6.

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

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

7.

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

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

8.

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

Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.

Am J Med Genet A. 2017 Oct;173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.

PMID:
28815871
9.

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

Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR.

Am J Med Genet A. 2016 Aug;170(8):2206-11. doi: 10.1002/ajmg.a.37780. Epub 2016 Jun 2. Review.

10.

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

Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y.

Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.

11.

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

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

12.

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.

Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A.

Clin Exp Immunol. 2014 Dec;178(3):459-69. doi: 10.1111/cei.12421.

13.

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

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

14.

A major X-linked locus affects kidney function in mice.

Leduc MS, Savage HS, Stearns TM, Cario CL, Walsh KA, Paigen B, Berndt A.

Mol Genet Genomics. 2012 Dec;287(11-12):845-54. doi: 10.1007/s00438-012-0720-x. Epub 2012 Sep 26.

15.

Using bioinformatics and systems genetics to dissect HDL-cholesterol genetics in an MRL/MpJ x SM/J intercross.

Leduc MS, Blair RH, Verdugo RA, Tsaih SW, Walsh K, Churchill GA, Paigen B.

J Lipid Res. 2012 Jun;53(6):1163-75. doi: 10.1194/jlr.M025833. Epub 2012 Apr 11.

16.

Integration of QTL and bioinformatic tools to identify candidate genes for triglycerides in mice.

Leduc MS, Hageman RS, Verdugo RA, Tsaih SW, Walsh K, Churchill GA, Paigen B.

J Lipid Res. 2011 Sep;52(9):1672-82. doi: 10.1194/jlr.M011130. Epub 2011 May 26.

17.

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.

Leduc MS, Lyons M, Darvishi K, Walsh K, Sheehan S, Amend S, Cox A, Orho-Melander M, Kathiresan S, Paigen B, Korstanje R.

J Lipid Res. 2011 Jun;52(6):1139-49. doi: 10.1194/jlr.M009175. Epub 2011 Mar 28.

18.

A Bayesian framework for inference of the genotype-phenotype map for segregating populations.

Hageman RS, Leduc MS, Korstanje R, Paigen B, Churchill GA.

Genetics. 2011 Apr;187(4):1163-70. doi: 10.1534/genetics.110.123273. Epub 2011 Jan 17.

19.

Uncovering genes and regulatory pathways related to urinary albumin excretion.

Hageman RS, Leduc MS, Caputo CR, Tsaih SW, Churchill GA, Korstanje R.

J Am Soc Nephrol. 2011 Jan;22(1):73-81. doi: 10.1681/ASN.2010050561. Epub 2010 Oct 28.

20.

Sequence variation at multiple loci influences red cell hemoglobin concentration.

Peters LL, Shavit JA, Lambert AJ, Tsaih SW, Li Q, Su Z, Leduc MS, Paigen B, Churchill GA, Ginsburg D, Brugnara C.

Blood. 2010 Dec 16;116(25):e139-49. doi: 10.1182/blood-2010-05-283879. Epub 2010 Sep 10.

21.

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

Leduc MS, Hageman RS, Meng Q, Verdugo RA, Tsaih SW, Churchill GA, Paigen B, Yuan R.

Aging Cell. 2010 Oct;9(5):823-36. doi: 10.1111/j.1474-9726.2010.00612.x.

22.

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

Su Z, Leduc MS, Korstanje R, Paigen B.

J Lipid Res. 2010 Sep;51(9):2706-13. doi: 10.1194/jlr.M008110. Epub 2010 Jun 19.

23.

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

Guo DC, Gupta P, Tran-Fadulu V, Guidry TV, Leduc MS, Schaefer FV, Milewicz DM.

J Hum Genet. 2008;53(11-12):1007-11. doi: 10.1007/s10038-008-0334-7. Epub 2008 Sep 17.

PMID:
18795226
24.

Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA.

Leduc MS, Shimmin LC, Klos KL, Hanis C, Boerwinkle E, Hixson JE.

J Lipid Res. 2008 Dec;49(12):2648-56. doi: 10.1194/jlr.M800155-JLR200. Epub 2008 Aug 1.

25.

The combined action of two enzymes in human serum can mimic the activity of cathepsin B.

Mort JS, Leduc MS.

Clin Chim Acta. 1984 Jul 16;140(2):173-82.

PMID:
6380824
26.

Characterization of a latent cysteine proteinase from ascitic fluid as a high molecular weight form of cathepsin B.

Mort JS, Leduc MS, Recklies AD.

Biochim Biophys Acta. 1983 Feb 22;755(3):369-75.

PMID:
6337648

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