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Items: 1 to 20 of 229

1.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Gazali LA, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0576-0. [Epub ahead of print]

PMID:
31263215
2.

Synthetic symbiosis combining plasmid displacement enables rapid construction of phenotype-stable strains.

Zhang R, Yang Y, Wang J, Lin Y, Yan Y.

Metab Eng. 2019 Jun 20;55:85-91. doi: 10.1016/j.ymben.2019.06.011. [Epub ahead of print]

PMID:
31229565
3.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
4.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.

Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

5.

Does the radiologist need to rescan the breast lesion to validate the final BI-RADS US assessment made on the static images in the diagnostic setting?

Hu Y, Mei J, Jiang X, Gu R, Liu F, Yang Y, Wang H, Shen S, Jia H, Liu Q, Gong C.

Cancer Manag Res. 2019 May 22;11:4607-4615. doi: 10.2147/CMAR.S198435. eCollection 2019.

6.

Development and validation of nomograms predicting survival in Chinese patients with triple negative breast cancer.

Yang Y, Wang Y, Deng H, Tan C, Li Q, He Z, Wei W, Zhou E, Liu Q, Liu J.

BMC Cancer. 2019 Jun 6;19(1):541. doi: 10.1186/s12885-019-5703-4.

7.

3D Brochosomes-Like TiO2 /WO3 /BiVO4 Arrays as Photoanode for Photoelectrochemical Hydrogen Production.

Pan Q, Zhang H, Yang Y, Cheng C.

Small. 2019 Jun 4:e1900924. doi: 10.1002/smll.201900924. [Epub ahead of print]

PMID:
31165562
8.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
9.

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.

Sun Y, Xiang J, Liu Y, Chen S, Yu J, Peng J, Liu Z, Chen L, Sun J, Yang Y, Yang Y, Zhou Y, Peng Z.

BMC Med Genomics. 2019 May 28;12(1):76. doi: 10.1186/s12920-019-0531-6.

10.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W.

Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5.

11.

Ginsenoside Rb1 ameliorates Staphylococcus aureus-induced Acute Lung Injury through attenuating NF-κB and MAPK activation.

Shaukat A, Guo YF, Jiang K, Zhao G, Wu H, Zhang T, Yang Y, Guo S, Yang C, Zahoor A, Akhtar M, Umar T, Shaukat I, Rajput SA, Hassan M, Deng G.

Microb Pathog. 2019 Jul;132:302-312. doi: 10.1016/j.micpath.2019.05.003. Epub 2019 May 4.

PMID:
31059756
12.

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.

Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network.

Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25.

13.

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network.

Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.

14.

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP.

Mol Genet Genomic Med. 2019 Jun;7(6):e593. doi: 10.1002/mgg3.593. Epub 2019 Apr 15.

15.

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119. Erratum in: J Genet Couns. 2019 May 21;:.

PMID:
30964584
16.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J.

Genet Med. 2019 Apr 3. doi: 10.1038/s41436-019-0503-4. [Epub ahead of print]

PMID:
30940925
17.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA.

Am J Med Genet A. 2019 Jun;179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28.

PMID:
30920161
18.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

19.

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
20.

Quantum photonic transistor controlled by an atom in a Floquet cavity-QED system.

Li H, Cai H, Xu J, Yakovlev VV, Yang Y, Wang DW.

Opt Express. 2019 Mar 4;27(5):6946-6957. doi: 10.1364/OE.27.006946.

PMID:
30876269

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