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Items: 1 to 50 of 155

1.

JASPAR 2020: update of the open-access database of transcription factor binding profiles.

Fornes O, Castro-Mondragon JA, Khan A, van der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M, Baranašić D, Santana-Garcia W, Tan G, Chèneby J, Ballester B, Parcy F, Sandelin A, Lenhard B, Wasserman WW, Mathelier A.

Nucleic Acids Res. 2019 Nov 8. pii: gkz1001. doi: 10.1093/nar/gkz1001. [Epub ahead of print]

PMID:
31701148
2.

Introduction to Genomic Analysis Workshop: A catalyst for engaging life-science researchers in high throughput analysis.

Richmond PA, Wasserman WW.

F1000Res. 2019 Jul 30;8:1221. doi: 10.12688/f1000research.19320.1. eCollection 2019.

3.

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis.

Ha TJ, Zhang PGY, Robert R, Yeung J, Swanson DJ, Mathelier A, Wasserman WW, Im S, Itoh M, Kawaji H, Lassmann T, Daub CO, Arner E; FANTOM Consortium, Carninci P, Hayashizaki Y, Forrest ARR, Goldowitz D.

BMC Genomics. 2019 Sep 18;20(1):718. doi: 10.1186/s12864-019-6063-9.

4.

Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

Ye XC, van der Lee R, Wasserman WW, Causes Study, Friedman JM, Lehman A.

Pediatr Neurol. 2019 Nov;100:87-91. doi: 10.1016/j.pediatrneurol.2019.04.002. Epub 2019 Apr 11.

PMID:
31492586
5.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
6.

TFEA.ChIP: A tool kit for transcription factor binding site enrichment analysis capitalizing on ChIP-seq datasets.

Puente-Santamaria L, Wasserman WW, Del Peso L.

Bioinformatics. 2019 Jul 26. pii: btz573. doi: 10.1093/bioinformatics/btz573. [Epub ahead of print]

PMID:
31347689
7.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
8.

Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.

Ye XC, van der Lee R, Wasserman WW.

Gene. 2019 May 20;697:213-226. doi: 10.1016/j.gene.2019.02.020. Epub 2019 Feb 15.

9.

Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele.

Korecki AJ, Hickmott JW, Lam SL, Dreolini L, Mathelier A, Baker O, Kuehne C, Bonaguro RJ, Smith J, Tan CV, Zhou M, Goldowitz D, Deussing JM, Stewart AF, Wasserman WW, Holt RA, Simpson EM.

Genetics. 2019 Apr;211(4):1155-1177. doi: 10.1534/genetics.119.301984. Epub 2019 Feb 14.

10.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
11.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ.

JCI Insight. 2018 Dec 20;3(24). pii: 122373. doi: 10.1172/jci.insight.122373.

12.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study.

Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13.

PMID:
30542205
13.

Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants.

Shi W, Fornes O, Wasserman WW.

Bioinformatics. 2019 Aug 1;35(15):2610-2617. doi: 10.1093/bioinformatics/bty992.

14.

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Lee JJY, van Karnebeek CDM, Wasserman WW.

J Am Med Inform Assoc. 2019 Feb 1;26(2):124-133. doi: 10.1093/jamia/ocy153.

15.

Computational Analysis of Transcriptional Regulation Sites at the HTT Gene Locus.

De Souza RAG, Kosior N, Thomson SB, Mathelier A, Zhang AW, Bečanović K, Wasserman WW, Leavitt BR.

J Huntingtons Dis. 2018;7(3):223-237. doi: 10.3233/JHD-170272.

PMID:
30103339
16.

New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina.

Simpson EM, Korecki AJ, Fornes O, McGill TJ, Cueva-Vargas JL, Agostinone J, Farkas RA, Hickmott JW, Lam SL, Mathelier A, Renner LM, Stoddard J, Zhou M, Di Polo A, Neuringer M, Wasserman WW.

Hum Gene Ther. 2019 Mar;30(3):257-272. doi: 10.1089/hum.2018.118. Epub 2018 Oct 2.

17.

MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations.

Fornes O, Gheorghe M, Richmond PA, Arenillas DJ, Wasserman WW, Mathelier A.

Sci Data. 2018 Jul 24;5:180141. doi: 10.1038/sdata.2018.141.

18.

c-Myc is a novel Leishmania virulence factor by proxy that targets the host miRNA system and is essential for survival in human macrophages.

Colineau L, Lambertz U, Fornes O, Wasserman WW, Reiner NE.

J Biol Chem. 2018 Aug 17;293(33):12805-12819. doi: 10.1074/jbc.RA118.002462. Epub 2018 Jun 22.

19.

Human Enhancers Harboring Specific Sequence Composition, Activity, and Genome Organization Are Linked to the Immune Response.

Lecellier CH, Wasserman WW, Mathelier A.

Genetics. 2018 Aug;209(4):1055-1071. doi: 10.1534/genetics.118.301116. Epub 2018 Jun 5.

20.

Genome-wide prediction of cis-regulatory regions using supervised deep learning methods.

Li Y, Shi W, Wasserman WW.

BMC Bioinformatics. 2018 May 31;19(1):202. doi: 10.1186/s12859-018-2187-1.

21.

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.

Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.

22.

Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian Cancer.

Zhang AW, McPherson A, Milne K, Kroeger DR, Hamilton PT, Miranda A, Funnell T, Little N, de Souza CPE, Laan S, LeDoux S, Cochrane DR, Lim JLP, Yang W, Roth A, Smith MA, Ho J, Tse K, Zeng T, Shlafman I, Mayo MR, Moore R, Failmezger H, Heindl A, Wang YK, Bashashati A, Grewal DS, Brown SD, Lai D, Wan ANC, Nielsen CB, Huebner C, Tessier-Cloutier B, Anglesio MS, Bouchard-Côté A, Yuan Y, Wasserman WW, Gilks CB, Karnezis AN, Aparicio S, McAlpine JN, Huntsman DG, Holt RA, Nelson BH, Shah SP.

Cell. 2018 Jun 14;173(7):1755-1769.e22. doi: 10.1016/j.cell.2018.03.073. Epub 2018 May 10.

23.

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

Graham E, Lee J, Price M, Tarailo-Graovac M, Matthews A, Engelke U, Tang J, Kluijtmans LAJ, Wevers RA, Wasserman WW, van Karnebeek CDM, Mostafavi S.

J Inherit Metab Dis. 2018 May;41(3):435-445. doi: 10.1007/s10545-018-0139-6. Epub 2018 May 2.

24.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

25.

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

Lee JJY, Gottlieb MM, Lever J, Jones SJM, Blau N, van Karnebeek CDM, Wasserman WW.

J Inherit Metab Dis. 2018 May;41(3):555-562. doi: 10.1007/s10545-017-0125-4. Epub 2018 Jan 16.

26.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

27.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.

J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.

PMID:
29246092
28.

Correction to: FLAGS, frequently mutated genes in public exomes.

Shyr C, Tarailo-Graovac M, Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW.

BMC Med Genomics. 2017 Nov 29;10(1):69. doi: 10.1186/s12920-017-0309-7.

29.

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.

Khan A, Fornes O, Stigliani A, Gheorghe M, Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni SR, Tan G, Baranasic D, Arenillas DJ, Sandelin A, Vandepoele K, Lenhard B, Ballester B, Wasserman WW, Parcy F, Mathelier A.

Nucleic Acids Res. 2018 Jan 4;46(D1):D1284. doi: 10.1093/nar/gkx1188. No abstract available.

30.

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.

Khan A, Fornes O, Stigliani A, Gheorghe M, Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni SR, Tan G, Baranasic D, Arenillas DJ, Sandelin A, Vandepoele K, Lenhard B, Ballester B, Wasserman WW, Parcy F, Mathelier A.

Nucleic Acids Res. 2018 Jan 4;46(D1):D260-D266. doi: 10.1093/nar/gkx1126. Erratum in: Nucleic Acids Res. 2018 Jan 4;46(D1):D1284.

31.

The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia.

Tiana M, Acosta-Iborra B, Puente-Santamaría L, Hernansanz-Agustin P, Worsley-Hunt R, Masson N, García-Rio F, Mole D, Ratcliffe P, Wasserman WW, Jimenez B, Del Peso L.

Nucleic Acids Res. 2018 Jan 9;46(1):120-133. doi: 10.1093/nar/gkx951.

32.

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS.

Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Review.

PMID:
28787087
33.

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD.

Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.

PMID:
28778789
34.

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N.

Genet Med. 2018 Jan;20(1):151-158. doi: 10.1038/gim.2017.108. Epub 2017 Jul 20.

35.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
36.

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.

Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec.

37.

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M, Zhu JYA, Matthews A, van Karnebeek CDM, Wasserman WW.

Genet Med. 2017 Dec;19(12):1300-1308. doi: 10.1038/gim.2017.50. Epub 2017 May 4.

38.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
39.

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Tarailo-Graovac M, Wasserman WW, Van Karnebeek CD.

Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20. No abstract available.

PMID:
28277145
40.

CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.

Seid-Karbasi P, Ye XC, Zhang AW, Gladish N, Cheng SY, Rothe K, Pilsworth JA, Kang MA, Doolittle N, Jiang X, Stirling PC, Wasserman WW.

PLoS Biol. 2017 Mar 7;15(3):e2001192. doi: 10.1371/journal.pbio.2001192. eCollection 2017 Mar.

41.

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD.

Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.

PMID:
28211985
42.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.

Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.

43.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.

Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H, Gibson WT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156.

44.

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.

Chen CY, Shi W, Balaton BP, Matthews AM, Li Y, Arenillas DJ, Mathelier A, Itoh M, Kawaji H, Lassmann T, Hayashizaki Y, Carninci P, Forrest AR, Brown CJ, Wasserman WW.

Sci Rep. 2016 Nov 18;6:37324. doi: 10.1038/srep37324.

45.

Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.

Roche O, Deguiz ML, Tiana M, Galiana-Ribote C, Martinez-Alcazar D, Rey-Serra C, Ranz-Ribeiro B, Casitas R, Galera R, Fernández-Navarro I, Sánchez-Cuéllar S, Bernard V, Ancochea J, Wasserman WW, García-Rio F, Jimenez B, Del Peso L.

Nucleic Acids Res. 2016 Nov 2;44(19):9315-9330. Epub 2016 Sep 12.

46.

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.

Hickmott JW, Chen CY, Arenillas DJ, Korecki AJ, Lam SL, Molday LL, Bonaguro RJ, Zhou M, Chou AY, Mathelier A, Boye SL, Hauswirth WW, Molday RS, Wasserman WW, Simpson EM.

Mol Ther Methods Clin Dev. 2016 Aug 10;3:16051. doi: 10.1038/mtm.2016.51. eCollection 2016.

47.

DNA Shape Features Improve Transcription Factor Binding Site Predictions In Vivo.

Mathelier A, Xin B, Chiu TP, Yang L, Rohs R, Wasserman WW.

Cell Syst. 2016 Sep 28;3(3):278-286.e4. doi: 10.1016/j.cels.2016.07.001. Epub 2016 Aug 18.

48.

Evaluating the impact of single nucleotide variants on transcription factor binding.

Shi W, Fornes O, Mathelier A, Wasserman WW.

Nucleic Acids Res. 2016 Dec 1;44(21):10106-10116. Epub 2016 Aug 4.

49.

CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs.

Arenillas DJ, Forrest AR, Kawaji H, Lassmann T; FANTOM Consortium, Wasserman WW, Mathelier A.

Bioinformatics. 2016 Sep 15;32(18):2858-60. doi: 10.1093/bioinformatics/btw337. Epub 2016 Jun 9.

50.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

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