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Publications by Robert Lyle

89 publications found

Original articles

Spildrejorde M, Samara A, Sharma A, Leithaug M, Falck M, Modafferi S, Sundaram AYM, Acharya G, Nordeng H, Eskeland R, Gervin K, Lyle R (2023)
Multi-omics approach reveals dysregulated genes during hESCs neuronal differentiation exposure to paracetamol
iScience, 26 (10), 107755
DOI 10.1016/j.isci.2023.107755, PubMed 37731623

Olstad EW, Nordeng HME, Lyle R, Gervin K (2023)
No impact of prenatal paracetamol and folic acid exposure on cord blood DNA methylation in children with attention-deficit/hyperactivity disorder
Front Genet, 14, 1204879
DOI 10.3389/fgene.2023.1204879, PubMed 37396039

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2023)
Effects of prenatal exposure to (es)citalopram and maternal depression during pregnancy on DNA methylation and child neurodevelopment
Transl Psychiatry, 13 (1), 149
DOI 10.1038/s41398-023-02441-2, PubMed 37147306

Romanowska J, Nustad HE, Page CM, Denault WRP, Lee Y, Magnus MC, Haftorn KL, Gjerdevik M, Novakovic B, Saffery R, Gjessing HK, Lyle R, Magnus P, Håberg SE, Jugessur A (2023)
The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
Hum Genomics, 17 (1), 35
DOI 10.1186/s40246-023-00484-6, PubMed 37085889

Haftorn KL, Denault WRP, Lee Y, Page CM, Romanowska J, Lyle R, Næss ØE, Kristjansson D, Magnus PM, Håberg SE, Bohlin J, Jugessur A (2023)
Nucleated red blood cells explain most of the association between DNA methylation and gestational age
Commun Biol, 6 (1), 224
DOI 10.1038/s42003-023-04584-w, PubMed 36849614

Samara A, Spildrejorde M, Sharma A, Falck M, Leithaug M, Modafferi S, Bjørnstad PM, Acharya G, Gervin K, Lyle R, Eskeland R (2022)
A multi-omics approach to visualize early neuronal differentiation from hESCs in 4D
iScience, 25 (11), 105279
DOI 10.1016/j.isci.2022.105279, PubMed 36304110

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2022)
Low reliability of DNA methylation across Illumina Infinium platforms in cord blood: implications for replication studies and meta-analyses of prenatal exposures
Clin Epigenetics, 14 (1), 80
DOI 10.1186/s13148-022-01299-3, PubMed 35765087

Yadav A, Verhaegen S, Filis P, Domanska D, Lyle R, Sundaram AYM, Leithaug M, Østby GC, Aleksandersen M, Berntsen HF, Zimmer KE, Fowler PA, Paulsen RE, Ropstad E (2022)
Exposure to a human relevant mixture of persistent organic pollutants or to perfluorooctane sulfonic acid alone dysregulates the developing cerebellum of chicken embryo
Environ Int, 166, 107379
DOI 10.1016/j.envint.2022.107379, PubMed 35792514

Kallak TK, Fransson E, Bränn E, Berglund H, Lager S, Comasco E, Lyle R, Skalkidou A (2022)
Maternal prenatal depressive symptoms and toddler behavior: an umbilical cord blood epigenome-wide association study
Transl Psychiatry, 12 (1), 186
DOI 10.1038/s41398-022-01954-6, PubMed 35513368

Håberg SE, Page CM, Lee Y, Nustad HE, Magnus MC, Haftorn KL, Carlsen EØ, Denault WRP, Bohlin J, Jugessur A, Magnus P, Gjessing HK, Lyle R (2022)
DNA methylation in newborns conceived by assisted reproductive technology
Nat Commun, 13 (1), 1896
DOI 10.1038/s41467-022-29540-w, PubMed 35393427

Umu SU, Langseth H, Zuber V, Helland Å, Lyle R, Rounge TB (2022)
Serum RNAs can predict lung cancer up to 10 years prior to diagnosis
Elife, 11
DOI 10.7554/eLife.71035, PubMed 35147498

Nustad HE, Steinsland I, Ollikainen M, Cazaly E, Kaprio J, Benjamini Y, Gervin K, Lyle R (2022)
Modeling dependency structures in 450k DNA methylation data
Bioinformatics, 38 (4), 885-891
DOI 10.1093/bioinformatics/btab774, PubMed 34788815

Kværner AS, Birkeland E, Bucher-Johannessen C, Vinberg E, Nordby JI, Kangas H, Bemanian V, Ellonen P, Botteri E, Natvig E, Rognes T, Hovig E, Lyle R, Ambur OH, de Vos WM, Bultman S, Hjartåker A, Landberg R, Song M, Blix HS, Ursin G, Randel KR, de Lange T, Hoff G, Holme Ø et al. (2021)
The CRCbiome study: a large prospective cohort study examining the role of lifestyle and the gut microbiome in colorectal cancer screening participants
BMC Cancer, 21 (1), 930
DOI 10.1186/s12885-021-08640-8, PubMed 34407780

Wojewodzic MW, Leithaug M, Lauritzen M, Lyle R, Haglund S, Rubin CJ, Ewels PA, Grotmol T, Rounge TB (2021)
Ultralow amounts of DNA from long-term archived serum samples produce high-quality methylomes
Clin Epigenetics, 13 (1), 107
DOI 10.1186/s13148-021-01097-3, PubMed 33980276

Denault WRP, Romanowska J, Haaland ØA, Lyle R, Taylor JA, Xu Z, Lie RT, Gjessing HK, Jugessur A (2021)
Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts
NAR Genom Bioinform, 3 (2), lqab035
DOI 10.1093/nargab/lqab035, PubMed 33987535

Haftorn KL, Lee Y, Denault WRP, Page CM, Nustad HE, Lyle R, Gjessing HK, Malmberg A, Magnus MC, Næss Ø, Czamara D, Räikkönen K, Lahti J, Magnus P, Håberg SE, Jugessur A, Bohlin J (2021)
An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies
Clin Epigenetics, 13 (1), 82
DOI 10.1186/s13148-021-01055-z, PubMed 33875015

Kallak TK, Bränn E, Fransson E, Johansson Å, Lager S, Comasco E, Lyle R, Skalkidou A (2021)
DNA methylation in cord blood in association with prenatal depressive symptoms
Clin Epigenetics, 13 (1), 78
DOI 10.1186/s13148-021-01054-0, PubMed 33845866

Lee Y, Haftorn KL, Denault WRP, Nustad HE, Page CM, Lyle R, Lee-Ødegård S, Moen GH, Prasad RB, Groop LC, Sletner L, Sommer C, Magnus MC, Gjessing HK, Harris JR, Magnus P, Håberg SE, Jugessur A, Bohlin J (2020)
Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array
BMC Genomics, 21 (1), 747
DOI 10.1186/s12864-020-07168-8, PubMed 33109080

Umu SU, Langseth H, Keller A, Meese E, Helland Å, Lyle R, Rounge TB (2020)
A 10-year prediagnostic follow-up study shows that serum RNA signals are highly dynamic in lung carcinogenesis
Mol Oncol, 14 (2), 235-247
DOI 10.1002/1878-0261.12620, PubMed 31851411

Khezri A, Narud B, Stenseth EB, Johannisson A, Myromslien FD, Gaustad AH, Wilson RC, Lyle R, Morrell JM, Kommisrud E, Ahmad R (2019)
DNA methylation patterns vary in boar sperm cells with different levels of DNA fragmentation
BMC Genomics, 20 (1), 897
DOI 10.1186/s12864-019-6307-8, PubMed 31775629

Gervin K, Salas LA, Bakulski KM, van Zelm MC, Koestler DC, Wiencke JK, Duijts L, Moll HA, Kelsey KT, Kobor MS, Lyle R, Christensen BC, Felix JF, Jones MJ (2019)
Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data
Clin Epigenetics, 11 (1), 125
DOI 10.1186/s13148-019-0717-y, PubMed 31455416

Rounge TB, Umu SU, Keller A, Meese E, Ursin G, Tretli S, Lyle R, Langseth H (2018)
Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity
Sci Rep, 8 (1), 17650
DOI 10.1038/s41598-018-35974-4, PubMed 30518766

Umu SU, Langseth H, Bucher-Johannessen C, Fromm B, Keller A, Meese E, Lauritzen M, Leithaug M, Lyle R, Rounge TB (2017)
A comprehensive profile of circulating RNAs in human serum
RNA Biol, 15 (2), 242-250
DOI 10.1080/15476286.2017.1403003, PubMed 29219730

Gervin K, Nordeng H, Ystrom E, Reichborn-Kjennerud T, Lyle R (2017)
Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD
Clin Epigenetics, 9, 77
DOI 10.1186/s13148-017-0376-9, PubMed 28785368

Reppe S, Lien TG, Hsu YH, Gautvik VT, Olstad OK, Yu R, Bakke HG, Lyle R, Kringen MK, Glad IK, Gautvik KM (2017)
Distinct DNA methylation profiles in bone and blood of osteoporotic and healthy postmenopausal women
Epigenetics, 12 (8), 674-687
DOI 10.1080/15592294.2017.1345832, PubMed 28650214

Hanssen EN, Lyle R, Egeland T, Gill P (2017)
Degradation in forensic trace DNA samples explored by massively parallel sequencing
Forensic Sci Int Genet, 27, 160-166
DOI 10.1016/j.fsigen.2017.01.002, PubMed 28088090

Svendsen AJ, Gervin K, Lyle R, Christiansen L, Kyvik K, Junker P, Nielsen C, Houen G, Tan Q (2016)
Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
Front Immunol, 7, 510
DOI 10.3389/fimmu.2016.00510, PubMed 27909437

Gervin K, Andreassen BK, Hjorthaug HS, Carlsen KCL, Carlsen KH, Undlien DE, Lyle R, Munthe-Kaas MC (2016)
Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
Clin Epigenetics, 8, 110
DOI 10.1186/s13148-016-0277-3, PubMed 27785156

Sundaram AY, Hughes T, Biondi S, Bolduc N, Bowman SK, Camilli A, Chew YC, Couture C, Farmer A, Jerome JP, Lazinski DW, McUsic A, Peng X, Shazand K, Xu F, Lyle R, Gilfillan GD (2016)
A comparative study of ChIP-seq sequencing library preparation methods
BMC Genomics, 17 (1), 816
DOI 10.1186/s12864-016-3135-y, PubMed 27769162

Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283

Wikenius E, Moe V, Kjellevold M, Smith L, Lyle R, Waagbø R, Page CM, Myhre AM (2016)
The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
PLoS One, 11 (9), e0161804
DOI 10.1371/journal.pone.0161804, PubMed 27584584

Gervin K, Page CM, Aass HC, Jansen MA, Fjeldstad HE, Andreassen BK, Duijts L, van Meurs JB, van Zelm MC, Jaddoe VW, Nordeng H, Knudsen GP, Magnus P, Nystad W, Staff AC, Felix JF, Lyle R (2016)
Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
Epigenetics, 11 (9), 690-698
DOI 10.1080/15592294.2016.1214782, PubMed 27494297

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878

Lekva T, Lyle R, Roland MC, Friis C, Bianchi DW, Jaffe IZ, Norwitz ER, Bollerslev J, Henriksen T, Ueland T (2016)
Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
Sci Rep, 6, 29715
DOI 10.1038/srep29715, PubMed 27405415

Tekpli X, Urbanucci A, Hashim A, Vågbø CB, Lyle R, Kringen MK, Staff AC, Dybedal I, Mills IG, Klungland A, Staerk J (2016)
Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
Epigenetics Chromatin, 9, 21
DOI 10.1186/s13072-016-0070-8, PubMed 27252783

Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
DOI 10.1186/s12864-016-2374-2, PubMed 26764020

Willemsen G, Ward KJ, Bell CG, Christensen K, Bowden J, Dalgård C, Harris JR, Kaprio J, Lyle R, Magnusson PK, Mather KA, Ordoňana JR, Perez-Riquelme F, Pedersen NL, Pietiläinen KH, Sachdev PS, Boomsma DI, Spector T (2015)
The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium
Twin Res Hum Genet, 18 (6), 762-71
DOI 10.1017/thg.2015.83, PubMed 26678054

Rounge TB, Lauritzen M, Langseth H, Enerly E, Lyle R, Gislefoss RE (2015)
microRNA Biomarker Discovery and High-Throughput DNA Sequencing Are Possible Using Long-term Archived Serum Samples
Cancer Epidemiol Biomarkers Prev, 24 (9), 1381-7
DOI 10.1158/1055-9965.EPI-15-0289, PubMed 26108462

Ollikainen M, Ismail K, Gervin K, Kyllönen A, Hakkarainen A, Lundbom J, Järvinen EA, Harris JR, Lundbom N, Rissanen A, Lyle R, Pietiläinen KH, Kaprio J (2015)
Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat
Clin Epigenetics, 7 (1), 39
DOI 10.1186/s13148-015-0073-5, PubMed 25866590

Reppe S, Noer A, Grimholt RM, Halldórsson BV, Medina-Gomez C, Gautvik VT, Olstad OK, Berg JP, Datta H, Estrada K, Hofman A, Uitterlinden AG, Rivadeneira F, Lyle R, Collas P, Gautvik KM (2015)
Methylation of bone SOST, its mRNA, and serum sclerostin levels correlate strongly with fracture risk in postmenopausal women
J Bone Miner Res, 30 (2), 249-56
DOI 10.1002/jbmr.2342, PubMed 25155887

Lekva T, Berg JP, Lyle R, Heck A, Bollerslev J, Ueland T (2015)
Alternative splicing of placental lactogen (CSH2) in somatotroph pituitary adenomas
Neuro Endocrinol Lett, 36 (2), 136-42
PubMed 26071582

Stormo C, Kringen MK, Lyle R, Olstad OK, Sachse D, Berg JP, Piehler AP (2014)
RNA-sequencing analysis of HepG2 cells treated with atorvastatin
PLoS One, 9 (8), e105836
DOI 10.1371/journal.pone.0105836, PubMed 25153832

Squadrito ML, Baer C, Burdet F, Maderna C, Gilfillan GD, Lyle R, Ibberson M, De Palma M (2014)
Endogenous RNAs modulate microRNA sorting to exosomes and transfer to acceptor cells
Cell Rep, 8 (5), 1432-46
DOI 10.1016/j.celrep.2014.07.035, PubMed 25159140

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989

Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930

Lekva T, Berg JP, Lyle R, Heck A, Ringstad G, Olstad OK, Michelsen AE, Casar-Borota O, Bollerslev J, Ueland T (2013)
Epithelial splicing regulator protein 1 and alternative splicing in somatotroph adenomas
Endocrinology, 154 (9), 3331-43
DOI 10.1210/en.2013-1051, PubMed 23825128

Weedon-Fekjær MS, Sheng Y, Herse F, Lyle R, Sugulle M, Dechend R, Staff AC (2013)
OP008. Different dysregulation of placental mirnas in early- and late-onset preeclampsia
Pregnancy Hypertens, 3 (2), 65
DOI 10.1016/j.preghy.2013.04.024, PubMed 26105854

Peña-Diaz J, Hegre SA, Anderssen E, Aas PA, Mjelle R, Gilfillan GD, Lyle R, Drabløs F, Krokan HE, Sætrom P (2013)
Transcription profiling during the cell cycle shows that a subset of Polycomb-targeted genes is upregulated during DNA replication
Nucleic Acids Res, 41 (5), 2846-56
DOI 10.1093/nar/gks1336, PubMed 23325852

Munthe-Kaas MC, Bertelsen RJ, Torjussen TM, Hjorthaug HS, Undlien DE, Lyle R, Gervin K, Granum B, Mowinckel P, Carlsen KH, Carlsen KC (2012)
Pet keeping and tobacco exposure influence CD14 methylation in childhood
Pediatr Allergy Immunol, 23 (8), 747-54
DOI 10.1111/pai.12021, PubMed 23194293

Nilsen TS, Knudsen GP, Gervin K, Brandt I, Røysamb E, Tambs K, Orstavik R, Lyle R, Reichborn-Kjennerud T, Magnus P, Harris JR (2012)
The Norwegian Twin Registry from a public health perspective: a research update
Twin Res Hum Genet, 16 (1), 285-95
DOI 10.1017/thg.2012.117, PubMed 23186607

Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
Limitations and possibilities of low cell number ChIP-seq
BMC Genomics, 13, 645
DOI 10.1186/1471-2164-13-645, PubMed 23171294

Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE (2012)
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
Eur J Hum Genet, 20 (9), 999-1003
DOI 10.1038/ejhg.2012.42, PubMed 22378277

Squadrito ML, Pucci F, Magri L, Moi D, Gilfillan GD, Ranghetti A, Casazza A, Mazzone M, Lyle R, Naldini L, De Palma M (2012)
miR-511-3p modulates genetic programs of tumor-associated macrophages
Cell Rep, 1 (2), 141-54
DOI 10.1016/j.celrep.2011.12.005, PubMed 22832163

Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A et al. (2012)
Age-related somatic structural changes in the nuclear genome of human blood cells
Am J Hum Genet, 90 (2), 217-28
DOI 10.1016/j.ajhg.2011.12.009, PubMed 22305530

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853

Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nygård H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R (2012)
DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
PLoS Genet, 8 (1), e1002454
DOI 10.1371/journal.pgen.1002454, PubMed 22291603

Hansen JS, Nygaard UC, Lyle R, Lovik M (2012)
Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure
Int Arch Allergy Immunol, 158 (3), 261-75
DOI 10.1159/000332963, PubMed 22398405

Gervin K, Hammerø M, Akselsen HE, Moe R, Nygård H, Brandt I, Gjessing HK, Harris JR, Undlien DE, Lyle R (2011)
Extensive variation and low heritability of DNA methylation identified in a twin study
Genome Res, 21 (11), 1813-21
DOI 10.1101/gr.119685.110, PubMed 21948560

Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U (2011)
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
Invest Ophthalmol Vis Sci, 52 (9), 6814-9
DOI 10.1167/iovs.10-6815, PubMed 21357393

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855

Stax MJ, Naarding MA, Tanck MW, Lindquist S, Hernell O, Lyle R, Brandtzaeg P, Eggesbø M, Pollakis G, Paxton WA (2011)
Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism
PLoS One, 6 (2), e17316
DOI 10.1371/journal.pone.0017316, PubMed 21386960

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704

Munthe-Kaas MC, Torjussen TM, Gervin K, Lødrup Carlsen KC, Carlsen KH, Granum B, Hjorthaug HS, Undlien D, Lyle R (2010)
CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
J Allergy Clin Immunol, 125 (6), 1361-8
DOI 10.1016/j.jaci.2010.02.010, PubMed 20398919

Moldrich RX, Dauphinot L, Laffaire J, Vitalis T, Hérault Y, Beart PM, Rossier J, Vivien D, Gehrig C, Antonarakis SE, Lyle R, Potier MC (2009)
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres
J Neurosci Res, 87 (14), 3143-52
DOI 10.1002/jnr.22131, PubMed 19472221

Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M et al. (2008)
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
Eur J Hum Genet, 17 (4), 454-66
DOI 10.1038/ejhg.2008.214, PubMed 19002211

Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D (2008)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
Am J Hum Genet, 83 (3), 388-400
DOI 10.1016/j.ajhg.2008.08.012, PubMed 18771760

Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F, Vieux C, Extermann P, Lyle R, Morris MA, Antonarakis SE, Béna F, Blouin JL (2008)
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
Am J Med Genet A, 146A (16), 2086-93
DOI 10.1002/ajmg.a.32431, PubMed 18627064

Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL (2008)
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
Hum Mutat, 29 (6), 879-85
DOI 10.1002/humu.20749, PubMed 18409188

Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE (2008)
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
Mamm Genome, 19 (4), 272-8
DOI 10.1007/s00335-008-9106-0, PubMed 18392654

Attanasio C, Reymond A, Humbert R, Lyle R, Kuehn MS, Neph S, Sabo PJ, Goldy J, Weaver M, Haydock A, Lee K, Dorschner M, Dermitzakis ET, Antonarakis SE, Stamatoyannopoulos JA (2008)
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
Genome Biol, 9 (12), R168
DOI 10.1186/gb-2008-9-12-r168, PubMed 19055709

Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, Dahoun S, She X, Bena F, Wang SY, Van Broeckhoven C, Eichler EE, Guigo R, Rogers J, de Jong PJ, Reymond A et al. (2007)
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
Genome Res, 17 (11), 1690-6
DOI 10.1101/gr.6675307, PubMed 17895424

Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE (2007)
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
Am J Hum Genet, 81 (2), 252-63
DOI 10.1086/519248, PubMed 17668376

Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE (2006)
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
Am J Med Genet A, 140 (13), 1384-95
DOI 10.1002/ajmg.a.31247, PubMed 16691619

Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE (2006)
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation
Am J Med Genet A, 140 (13), 1375-83
DOI 10.1002/ajmg.a.31246, PubMed 16761290

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A (2006)
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
Am J Hum Genet, 79 (2), 332-41
DOI 10.1086/506371, PubMed 16826523

Stranger BE, Forrest MS, Clark AG, Minichiello MJ, Deutsch S, Lyle R, Hunt S, Kahl B, Antonarakis SE, Tavaré S, Deloukas P, Dermitzakis ET (2005)
Genome-wide associations of gene expression variation in humans
PLoS Genet, 1 (6), e78
DOI 10.1371/journal.pgen.0010078, PubMed 16362079

Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE (2005)
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
Hum Mol Genet, 14 (23), 3741-9
DOI 10.1093/hmg/ddi404, PubMed 16251198

Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE (2005)
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
Hum Mutat, 25 (6), 543-9
DOI 10.1002/humu.20172, PubMed 15880785

Webster KE, O'Bryan MK, Fletcher S, Crewther PE, Aapola U, Craig J, Harrison DK, Aung H, Phutikanit N, Lyle R, Meachem SJ, Antonarakis SE, de Kretser DM, Hedger MP, Peterson P, Carroll BJ, Scott HS (2005)
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis
Proc Natl Acad Sci U S A, 102 (11), 4068-73
DOI 10.1073/pnas.0500702102, PubMed 15753313

Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE (2004)
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
Genome Res, 14 (7), 1268-74
DOI 10.1101/gr.2090904, PubMed 15231743

Tapparel C, Reymond A, Girardet C, Guillou L, Lyle R, Lamon C, Hutter P, Antonarakis SE (2003)
The TPTE gene family: cellular expression, subcellular localization and alternative splicing
Gene, 323, 189-99
DOI 10.1016/j.gene.2003.09.038, PubMed 14659893

de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE (2003)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
Hum Mol Genet, 12 (16), 1959-71
DOI 10.1093/hmg/ddg212, PubMed 12913067

Guigo R, Dermitzakis ET, Agarwal P, Ponting CP, Parra G, Reymond A, Abril JF, Keibler E, Lyle R, Ucla C, Antonarakis SE, Brent MR (2003)
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes
Proc Natl Acad Sci U S A, 100 (3), 1140-5
DOI 10.1073/pnas.0337561100, PubMed 12552088

Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C, Deutsch S, Stevenson BJ, Flegel V, Bucher P, Jongeneel CV, Antonarakis SE (2002)
Numerous potentially functional but non-genic conserved sequences on human chromosome 21
Nature, 420 (6915), 578-82
DOI 10.1038/nature01251, PubMed 12466853

Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A (2002)
Human chromosome 21 gene expression atlas in the mouse
Nature, 420 (6915), 582-6
DOI 10.1038/nature01178, PubMed 12466854

Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE (2002)
Nineteen additional unpredicted transcripts from human chromosome 21
Genomics, 79 (6), 824-32
DOI 10.1006/geno.2002.6781, PubMed 12036297

Review articles

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004)
Chromosome 21 and down syndrome: from genomics to pathophysiology
Nat Rev Genet, 5 (10), 725-38
DOI 10.1038/nrg1448, PubMed 15510164

Antonarakis SE, Lyle R, Deutsch S, Reymond A (2002)
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
Int J Dev Biol, 46 (1), 89-96
PubMed 11902692

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Samara A, Falck M, Spildrejorde M, Leithaug M, Acharya G, Lyle R, Eskeland R (2022)
Robust neuronal differentiation of human embryonic stem cells for neurotoxicology
STAR Protoc, 3 (3), 101533
DOI 10.1016/j.xpro.2022.101533, PubMed 36123835