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Items: 1 to 50 of 82

1.

Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR.

Shebanits K, Günther T, Johansson ACV, Maqbool K, Feuk L, Jakobsson M, Larhammar D.

BMC Biotechnol. 2019 Jun 4;19(1):31. doi: 10.1186/s12896-019-0523-9.

2.

Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.

Torabi Moghadam B, Etemadikhah M, Rajkowska G, Stockmeier C, Grabherr M, Komorowski J, Feuk L, Carlström EL.

J Psychiatr Res. 2019 Jul;114:41-47. doi: 10.1016/j.jpsychires.2019.04.001. Epub 2019 Apr 2.

PMID:
31022588
3.

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Thuresson AC, Soussi Zander C, Zhao JJ, Halvardson J, Maqbool K, Månsson E, Stenninger E, Holmlund U, Öhrner Y, Feuk L.

Clin Genet. 2019 Mar;95(3):436-439. doi: 10.1111/cge.13470. Epub 2018 Dec 7. No abstract available.

4.

Expression profiling and in situ screening of circular RNAs in human tissues.

Zaghlool A, Ameur A, Wu C, Westholm JO, Niazi A, Manivannan M, Bramlett K, Nilsson M, Feuk L.

Sci Rep. 2018 Nov 16;8(1):16953. doi: 10.1038/s41598-018-35001-6.

5.

De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.

Ameur A, Che H, Martin M, Bunikis I, Dahlberg J, Höijer I, Häggqvist S, Vezzi F, Nordlund J, Olason P, Feuk L, Gyllensten U.

Genes (Basel). 2018 Oct 9;9(10). pii: E486. doi: 10.3390/genes9100486.

6.

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Höijer I, Tsai YC, Clark TA, Kotturi P, Dahl N, Stattin EL, Bondeson ML, Feuk L, Gyllensten U, Ameur A.

Hum Mutat. 2018 Sep;39(9):1262-1272. doi: 10.1002/humu.23580. Epub 2018 Jul 12.

7.

Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference.

Shebanits K, Andersson-Assarsson JC, Larsson I, Carlsson LMS, Feuk L, Larhammar D.

PLoS One. 2018 Apr 5;13(4):e0194668. doi: 10.1371/journal.pone.0194668. eCollection 2018.

8.

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0).

Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes IT, Armstrong J, Laayouni H, Gordon D, Huddleston J, Garcia Perez R, Povolotskaya I, Serres Armero A, Gómez Garrido J, Ho D, Ribeca P, Alioto T, Green RE, Paten B, Navarro A, Betranpetit J, Herrero J, Eichler EE, Sharp AJ, Feuk L, Warren WC, Marques-Bonet T.

Gigascience. 2017 Nov 1;6(11):1-6. doi: 10.1093/gigascience/gix098.

9.

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9.

10.

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, Viklund J, Kähäri AK, Lundin P, Che H, Thutkawkorapin J, Eisfeldt J, Lampa S, Dahlberg M, Hagberg J, Jareborg N, Liljedahl U, Jonasson I, Johansson Å, Feuk L, Lundeberg J, Syvänen AC, Lundin S, Nilsson D, Nystedt B, Magnusson PK, Gyllensten U.

Eur J Hum Genet. 2017 Nov;25(11):1253-1260. doi: 10.1038/ejhg.2017.130. Epub 2017 Aug 23.

11.

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Zhao JJ, Halvardson J, Knaus A, Georgii-Hemming P, Baeck P, Krawitz PM, Thuresson AC, Feuk L.

Hum Mutat. 2017 Oct;38(10):1394-1401. doi: 10.1002/humu.23268. Epub 2017 Jun 12.

12.

Mutations in HECW2 are associated with intellectual disability and epilepsy.

Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L.

J Med Genet. 2016 Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22.

13.

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.

Zaghlool A, Halvardson J, Zhao JJ, Etemadikhah M, Kalushkova A, Konska K, Jernberg-Wiklund H, Thuresson AC, Feuk L.

Hum Mutat. 2016 Sep;37(9):964-75. doi: 10.1002/humu.23034. Epub 2016 Jul 8.

14.

One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.

Magnusson PK, Lee D, Chen X, Szatkiewicz J, Pramana S, Teo S, Sullivan PF, Feuk L, Pawitan Y.

Twin Res Hum Genet. 2016 Apr;19(2):97-103. doi: 10.1017/thg.2016.5. Epub 2016 Feb 22.

PMID:
26899349
15.

Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.

Johansson MM, Lundin E, Qian X, Mirzazadeh M, Halvardson J, Darj E, Feuk L, Nilsson M, Jazin E.

Biol Sex Differ. 2016 Jan 12;7:5. doi: 10.1186/s13293-015-0056-4. eCollection 2016.

16.

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.

Schuster J, Halvardson J, Pilar Lorenzo L, Ameur A, Sobol M, Raykova D, Annerén G, Feuk L, Dahl N.

Cell Reprogram. 2015 Oct;17(5):327-37. doi: 10.1089/cell.2015.0009. Epub 2015 Sep 8.

PMID:
26348590
17.

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N.

J Clin Invest. 2014 Nov;124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20.

18.

Splicing in the human brain.

Zaghlool A, Ameur A, Cavelier L, Feuk L.

Int Rev Neurobiol. 2014;116:95-125. doi: 10.1016/B978-0-12-801105-8.00005-9. Review.

PMID:
25172473
19.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O.

Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.

20.

Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.

Zaghlool A, Ameur A, Nyberg L, Halvardson J, Grabherr M, Cavelier L, Feuk L.

BMC Biotechnol. 2013 Nov 13;13:99. doi: 10.1186/1472-6750-13-99.

21.

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW.

Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.

22.

Genome-wide association study of susceptibility loci for cervical cancer.

Chen D, Juko-Pecirep I, Hammer J, Ivansson E, Enroth S, Gustavsson I, Feuk L, Magnusson PK, McKay JD, Wilander E, Gyllensten U.

J Natl Cancer Inst. 2013 May 1;105(9):624-33. doi: 10.1093/jnci/djt051. Epub 2013 Mar 12.

PMID:
23482656
23.

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Klar J, Sobol M, Melberg A, Mäbert K, Ameur A, Johansson AC, Feuk L, Entesarian M, Orlén H, Casar-Borota O, Dahl N.

Hum Mutat. 2013 Apr;34(4):572-7. doi: 10.1002/humu.22282.

PMID:
23348830
24.

RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.

Radomska KJ, Halvardson J, Reinius B, Lindholm Carlström E, Emilsson L, Feuk L, Jazin E.

Hum Mol Genet. 2013 Apr 1;22(7):1373-82. doi: 10.1093/hmg/dds553. Epub 2013 Jan 15.

PMID:
23321059
25.

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

Hooper SD, Johansson AC, Tellgren-Roth C, Stattin EL, Dahl N, Cavelier L, Feuk L.

BMC Med Genet. 2012 Dec 19;13:123. doi: 10.1186/1471-2350-13-123.

26.

Mechanisms of formation of structural variation in a fully sequenced human genome.

Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW.

Hum Mutat. 2013 Feb;34(2):345-54. doi: 10.1002/humu.22240. Epub 2012 Nov 19.

PMID:
23086744
27.

Exome RNA sequencing reveals rare and novel alternative transcripts.

Halvardson J, Zaghlool A, Feuk L.

Nucleic Acids Res. 2013 Jan 7;41(1):e6. doi: 10.1093/nar/gks816. Epub 2012 Aug 31.

28.

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O.

Epilepsia. 2012 Aug;53(8):1436-40. doi: 10.1111/j.1528-1167.2012.03536.x. Epub 2012 Jun 12.

29.

Diagnostic interpretation of array data using public databases and internet sources.

de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R.

Hum Mutat. 2012 Jun;33(6):930-40. doi: 10.1002/humu.22049.

30.

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.

Ameur A, Enroth S, Johansson A, Zaboli G, Igl W, Johansson AC, Rivas MA, Daly MJ, Schmitz G, Hicks AA, Meitinger T, Feuk L, van Duijn C, Oostra B, Pramstaller PP, Rudan I, Wright AF, Wilson JF, Campbell H, Gyllensten U.

Am J Hum Genet. 2012 May 4;90(5):809-20. doi: 10.1016/j.ajhg.2012.03.014. Epub 2012 Apr 12.

31.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.

Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009.

32.

Characterizing and interpreting genetic variation from personal genome sequencing.

Johansson AC, Feuk L.

Methods Mol Biol. 2012;838:343-67. doi: 10.1007/978-1-61779-507-7_17.

PMID:
22228021
33.

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.

Ameur A, Zaghlool A, Halvardson J, Wetterbom A, Gyllensten U, Cavelier L, Feuk L.

Nat Struct Mol Biol. 2011 Nov 6;18(12):1435-40. doi: 10.1038/nsmb.2143.

PMID:
22056773
34.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L.

Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852.

35.

Characterization of copy number-stable regions in the human genome.

Johansson AC, Feuk L.

Hum Mutat. 2011 Aug;32(8):947-55. doi: 10.1002/humu.21524. Epub 2011 Jul 20.

PMID:
21542059
36.

Public data archives for genomic structural variation.

Church DM, Lappalainen I, Sneddon TP, Hinton J, Maguire M, Lopez J, Garner J, Paschall J, DiCuccio M, Yaschenko E, Scherer SW, Feuk L, Flicek P.

Nat Genet. 2010 Oct;42(10):813-4. doi: 10.1038/ng1010-813. No abstract available.

37.

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.

Wetterbom A, Ameur A, Feuk L, Gyllensten U, Cavelier L.

Genome Biol. 2010;11(7):R78. doi: 10.1186/gb-2010-11-7-r78. Epub 2010 Jul 23.

38.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

39.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

40.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P.

Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979.

41.

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW.

Clin Genet. 2010 Nov;78(5):478-83. doi: 10.1111/j.1399-0004.2010.01405.x.

PMID:
20345473
42.

Global and unbiased detection of splice junctions from RNA-seq data.

Ameur A, Wetterbom A, Feuk L, Gyllensten U.

Genome Biol. 2010;11(3):R34. doi: 10.1186/gb-2010-11-3-r34. Epub 2010 Mar 17.

43.

Inversion variants in the human genome: role in disease and genome architecture.

Feuk L.

Genome Med. 2010 Feb 12;2(2):11. doi: 10.1186/gm132.

44.

Origins and functional impact of copy number variation in the human genome.

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

45.

Prepublication data sharing.

Toronto International Data Release Workshop Authors, Birney E, Hudson TJ, Green ED, Gunter C, Eddy S, Rogers J, Harris JR, Ehrlich SD, Apweiler R, Austin CP, Berglund L, Bobrow M, Bountra C, Brookes AJ, Cambon-Thomsen A, Carter NP, Chisholm RL, Contreras JL, Cooke RM, Crosby WL, Dewar K, Durbin R, Dyke SO, Ecker JR, El Emam K, Feuk L, Gabriel SB, Gallacher J, Gelbart WM, Granell A, Guarner F, Hubbard T, Jackson SA, Jennings JL, Joly Y, Jones SM, Kaye J, Kennedy KL, Knoppers BM, Kyrpides NC, Lowrance WW, Luo J, MacKay JJ, Martín-Rivera L, McCombie WR, McPherson JD, Miller L, Miller W, Moerman D, Mooser V, Morton CC, Ostell JM, Ouellette BF, Parkhill J, Raina PS, Rawlings C, Scherer SE, Scherer SW, Schofield PN, Sensen CW, Stodden VC, Sussman MR, Tanaka T, Thornton J, Tsunoda T, Valle D, Vuorio EI, Walker NM, Wallace S, Weinstock G, Whitman WB, Worley KC, Wu C, Wu J, Yu J.

Nature. 2009 Sep 10;461(7261):168-70. doi: 10.1038/461168a.

46.

ASHG 2008 Annual Meeting: from enormous cohorts to individual genomes.

Feuk L.

Genome Med. 2009 Jan 21;1(1):9. doi: 10.1186/gm9.

47.

Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.

Northcott PA, Nakahara Y, Wu X, Feuk L, Ellison DW, Croul S, Mack S, Kongkham PN, Peacock J, Dubuc A, Ra YS, Zilberberg K, McLeod J, Scherer SW, Sunil Rao J, Eberhart CG, Grajkowska W, Gillespie Y, Lach B, Grundy R, Pollack IF, Hamilton RL, Van Meter T, Carlotti CG, Boop F, Bigner D, Gilbertson RJ, Rutka JT, Taylor MD.

Nat Genet. 2009 Apr;41(4):465-72. doi: 10.1038/ng.336. Epub 2009 Mar 8.

48.

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D.

Proc Natl Acad Sci U S A. 2008 Aug 12;105(32):11264-9. doi: 10.1073/pnas.0802970105. Epub 2008 Aug 6.

49.

Copy number variation in the autism genome.

Feuk L.

Expert Opin Med Diagn. 2008 Apr;2(4):417-28. doi: 10.1517/17530059.2.4.417.

PMID:
23495708
50.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

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