Alexandre Reymond

Publications | Mémoires et thèses

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148 publications

2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1995 | 1993 | 1992 |
 
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Collins S.C., Mikhaleva A., Vrcelj K., Vancollie V.E., Wagner C., Demeure N., Whitley H., Kannan M., Balz R., Anthony LFE et al., 2019/08/01. Nature communications, 10 (1) p. 3465. Peer-reviewed.
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.
Porcu E., Rüeger S., Lepik K., eQTLGen Consortium, BIOS Consortium, Santoni F.A., Reymond A., Kutalik Z., 2019/07/24. Nature communications, 10 (1) p. 3300. Peer-reviewed.
 
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Delaneau O., Zazhytska M., Borel C., Giannuzzi G., Rey G., Howald C., Kumar S., Ongen H., Popadin K., Marbach D. et al., 2019/05/03. Science, 364 (6439). Peer-reviewed.
 
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
Moysés-Oliveira M., Di-Battista A., Zamariolli M., Meloni V.A., Bragagnolo S., Christofolini D.M., Steiner C.E., Kosyakova N., Liehr T., Reymond A. et al., 2019/05. European journal of human genetics, 27 (5) pp. 760-771. Peer-reviewed.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L., Jensen M., Polyak A., Rosenfeld J.A., Mannik K., Krishnan A., McCready E., Pichon O., Le Caignec C., Van Dijck A. et al., 2019/04. Genetics in medicine, 21 (4) pp. 816-825. Peer-reviewed.
 
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
Pranckėnienė L., Preikšaitienė E., Gueneau L., Reymond A., Kučinskas V., 2019. Genomics insights, 12 p. 1178631019839010. Peer-reviewed.
GENCODE reference annotation for the human and mouse genomes.
Frankish A., Diekhans M., Ferreira A.M., Johnson R., Jungreis I., Loveland J., Mudge J.M., Sisu C., Wright J., Armstrong J. et al., 2019. Nucleic Acids Research, 47 (D1) pp. D766-D773. Peer-reviewed.
 
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R., Leca I., van Dijk T., Weiss J., van Bon B.W., Sergaki M.C., Gstrein T., Breuss M., Tian G., Bahi-Buisson N. et al., 2018/12/19. Neuron, 100 (6) pp. 1354-1368.e5. Peer-reviewed.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S., Rodríguez-Herreros B., Nielsen J.A., Moreau C., Modenato C., Maillard A.M., Pain A., Richetin S., Jønch A.E., Qureshi A.Y. et al., 2018/08/15. Biological psychiatry, 84 (4) pp. 253-264. Peer-reviewed.
 
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Moysés-Oliveira M., Giannuzzi G., Fish R.J., Rosenfeld J.A., Petit F., Soares M.F., Kulikowski L.D., Di-Battista A., Zamariolli M., Xia F. et al., 2018/02. Human mutation, 39 (2) pp. 281-291. Peer-reviewed.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L., Fish R.J., Shamseldin H.E., Voisin N., Tran Mau-Them F., Preiksaitiene E., Monroe G.R., Lai A., Putoux A., Allias F. et al., 2018/01/04. American journal of human genetics, 102 (1) pp. 116-132. Peer-reviewed.
 
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.
Vernon H., Cohen J., De Nittis P., Fatemi A., McClellan R., Goldstein A., Malerba N., Guex N., Reymond A., Merla G., 2018. Clinical Genetics, 93 (6) pp. 1254-1256. Peer-reviewed.
 
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Popadin K., Peischl S., Garieri M., Sailani M.R., Letourneau A., Santoni F., Lukowski S.W., Bazykin G.A., Nikolaev S., Meyer D. et al., 2018. GenomeRresearch, 28 (1) pp. 1-10. Peer-reviewed.
 
Low number of fixed somatic mutations in a long-lived oak tree.
Schmid-Siegert E., Sarkar N., Iseli C., Calderon S., Gouhier-Darimont C., Chrast J., Cattaneo P., Schütz F., Farinelli L., Pagni M. et al., 2017/12. Nature plants, 3 (12) pp. 926-929. Peer-reviewed.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A., Tuke M.A., Deelen P., Kristiansson K., Mattsson H., Nõukas M., Sapkota Y., Schick U., Porcu E., Rüeger S. et al., 2017/09/29. Nature communications, 8 (1) p. 744. Peer-reviewed.
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers.
McDaid A.F., Joshi P.K., Porcu E., Komljenovic A., Li H., Sorrentino V., Litovchenko M., Bevers RPJ, Rüeger S., Reymond A. et al., 2017/07/27. Nature communications, 8 p. 15842. Peer-reviewed.
Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis.
Gschwind A.R., Singh A., Certa U., Reymond A., Heckel T., 2017/02/10. BMC genomics, 18 (1) p. 144. Peer-reviewed.
 
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Fusco C., Nittis P., Alfaiz A.A., Pellico M.T., Augello B., Malerba N., Zelante L., Reymond A., Merla G., 2017. Journal of Pediatric Genetics, 6 (2) pp. 98-102. Peer-reviewed.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio M.N., Leleu M., Männik K., Passeggeri M., Giannuzzi G., van der Werf I., Waszak S.M., Zazhytska M., Roberts-Caldeira I., Gheldof N. et al., 2017. Molecular Psychiatry, 22 (6) pp. 836-849. Peer-reviewed.
 
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Tumienė B., Voisin N., Preikšaitienė E., Petroška D., Grikinienė J., Samaitienė R., Utkus A., Reymond A., Kučinskas V., 2017. European Journal of Medical Genetics, 60 (3) pp. 154-158. Peer-reviewed.
 
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio M.N., Arbogast T., Jønch A.E., Collins S.C., Popadin K., Bonnet C.S., Giannuzzi G., Maillard A.M., Jacquemont S., 16p11.2 Consortium et al., 2017. American Journal of Human Genetics, 101 (4) pp. 564-577. Peer-reviewed.
 
New quality measure for SNP array based CNV detection.
Macé A., Tuke M.A., Beckmann J.S., Lin L., Jacquemont S., Weedon M.N., Reymond A., Kutalik Z., 2016/11/01. Bioinformatics (Oxford, England), 32 (21) pp. 3298-3305. Peer-reviewed.
 
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder E.M., De Nittis P., Koopman C.D., Wiszniewski W., Moura de Souza C.F., Lahrouchi N., Guex N., Napolioni V., Tessadori F., Beekman L. et al., 2016/09/01. American journal of human genetics, 99 (3) pp. 704-710. Peer-reviewed.
 
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
Terrone G., Voisin N., Abdullah Alfaiz A., Cappuccio G., Vitiello G., Guex N., D'Amico A., James Barkovich A., Brunetti-Pierri N., Del Giudice E. et al., 2016/08. European journal of human genetics, 24 (9) pp. 1359-1362. Peer-reviewed.
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Hippolyte L., Maillard A.M., Rodriguez-Herreros B., Pain A., Martin-Brevet S., Ferrari C., Conus P., Macé A., Hadjikhani N., Metspalu A. et al., 2016/07/15. Biological psychiatry, 80 (2) pp. 129-139. Peer-reviewed.
 
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz A.A., Müller V., Boutry-Kryza N., Ville D., Guex N., de Bellescize J., Rivier C., Labalme A., des Portes V., Edery P. et al., 2016/07. European journal of human genetics, 24 (7) pp. 1001-1008. Peer-reviewed.
 
16p11.2 Locus modulates response to satiety before the onset of obesity.
Maillard A.M., Hippolyte L., Rodriguez-Herreros B., Chawner S.J., Dremmel D., Agüera Z., Fagundo A.B., Pain A., Martin-Brevet S., Hilbert A. et al., 2016/05. International journal of obesity, 40 (5) pp. 870-876. Peer-reviewed.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Snyder L.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A. et al., 2016. Jama Psychiatry, 73 (1) pp. 20-30. Peer-reviewed.
 
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nuttle X., Giannuzzi G., Duyzend M.H., Schraiber J.G., Narvaiza I., Sudmant P.H., Penn O., Chiatante G., Malig M., Huddleston J. et al., 2016. Nature, 536 (7615) pp. 205-209. Peer-reviewed.
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).
Lagarde J., Uszczynska-Ratajczak B., Santoyo-Lopez J., Gonzalez J.M., Tapanari E., Mudge J.M., Steward C.A., Wilming L., Tanzer A., Howald C. et al., 2016. Nature Communications, 7 p. 12339. Peer-reviewed.
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Loviglio M.N., Beck C.R., White J.J., Leleu M., Harel T., Guex N., Niknejad A., Bi W., Chen E.S., Crespo I. et al., 2016. Genome medicine, 8 (1) p. 105. Peer-reviewed.
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
Arbogast T., Ouagazzal A.M., Chevalier C., Kopanitsa M., Afinowi N., Migliavacca E., Cowling B.S., Birling M.C., Champy M.F., Reymond A. et al., 2016. PLoS Genetics, 12 (2) pp. e1005709. Peer-reviewed.
 
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants
Leitsalu L., Alavere H., Jacquemont S., Kolk A., Maillard A.M., Reigo A., Noukas M., Reymond A., Mannik K., Ng P.C. et al., 2016. Personalized Medicine, 13 (4) pp. 303-314.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K. et al., 2015/11. Molecular Psychiatry, 20 (1) pp. 140-147. Peer-reviewed.
 
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L. et al., 2015. American Journal of Human Genetics, 96 (5) pp. 784-796.
 
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G., Hög F., Dentici M.L., Tan P.L., Sowada N., Medeira A., Gueneau L., Thiele H., Kousi M., Lepri F. et al., 2015. Genome Research, 25 (2) pp. 155-166.
Copy number variations and cognitive phenotypes in unselected populations
Männik K., Mägi R., Macé A., Cole B., Guyatt A.L., Shihab H.A., Maillard A.M., Alavere H., Kolk A., Reigo A. et al., 2015. Journal of the American Medical Association, 313 (20) pp. 2044-2054. Peer-reviewed.
 
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J.H., Cho T.J., Derbent M., Alanay Y., Guran T., Kim O.H. et al., 2015. American Journal of Medical Genetics. Part A, 167 (7) pp. 1501-1509. Peer-reviewed.
 
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.
Waszak S.M., Delaneau O., Gschwind A.R., Kilpinen H., Raghav S.K., Witwicki R.M., Orioli A., Wiederkehr M., Panousis N.I., Yurovsky A. et al., 2015. Cell, 162 (5) pp. 1039-1050. Peer-reviewed.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M. et al., 2014. Human Molecular Genetics, 23 (22) pp. 6069-6080. Peer-reviewed.
Comparative analysis of the transcriptome across distant species.
Gerstein M.B., Rozowsky J., Yan K.K., Wang D., Cheng C., Brown J.B., Davis C.A., Hillier L., Sisu C., Li J.J. et al., 2014. Nature, 512 (7515) pp. 445-448. Peer-reviewed.
Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data.
Waszak S.M., Kilpinen H., Gschwind A.R., Orioli A., Raghav S.K., Witwicki R.M., Migliavacca E., Yurovsky A., Lappalainen T., Hernandez N. et al., 2014. Bioinformatics, 30 (2) pp. 165-171.
Identification of structural variation in mouse genomes.
Keane T.M., Wong K., Adams D.J., Flint J., Reymond A., Yalcin B., 2014. Frontiers in Genetics, 5 p. 192.
 
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.
Giannuzzi G., Migliavacca E., Reymond A., 2014. Genome Research, 24 (9) pp. 1455-1468.
 
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
Alfaiz A.A., Micale L., Mandriani B., Augello B., Pellico M.T., Chrast J., Xenarios I., Zelante L., Merla G., Reymond A., 2014. Human Mutation, 35 (4) pp. 447-451.
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.
Rashidi-Nezhad A., Talebi S., Saebnouri H., Akrami S.M., Reymond A., 2014. BMC Medical Genetics, 15 p. 75.
 
Assessment of transcript reconstruction methods for RNA-seq.
Steijger T., Abril J.F., Engström P.G., Kokocinski F., RGASP Consortium, Abril J.F., Abril J.F., Akerman M., Alioto T., Ambrosini G. et al., 2013. Nature Methods, 10 (12) pp. 1177-1184.
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.
Kilpinen H., Waszak S.M., Gschwind A.R., Raghav S.K., Witwicki R.M., Orioli A., Migliavacca E., Wiederkehr M., Gutierrez-Arcelus M., Panousis N.I. et al., 2013. Science, 342 (6159) pp. 744-747.
 
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P., van Bon B., Steehouwer M., Rodríguez-Santiago B., Simpson M., Dias P., Anderlid B., Arts P., Bhat M., Augello B. et al., 2013. Clinical Genetics, 84 (6) pp. 539-545.
Structural variation-associated expression changes are paralleled by chromatin architecture modifications.
Gheldof N., Witwicki R.M., Migliavacca E., Leleu M., Didelot G., Harewood L., Rougemont J., Reymond A., 2013. PLoS One, 8 (11) pp. e79973.
 
2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.
Rashidi-Nezhad A., Parvaneh N., Farzanfar F., Azimi C., Harewood L., Akrami S.M., Reymond A., 2012. European Journal of Medical Genetics, 55 (3) pp. 203-210.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J. et al., 2012. Journal of Medical Genetics, 49 (10) pp. 660-668. Peer-reviewed.
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish.
Micale L., Loviglio M.N., Manzoni M., Fusco C., Augello B., Migliavacca E., Cotugno G., Monti E., Borsani G., Reymond A. et al., 2012. PLoS One, 7 (10) pp. e46642.
 
An integrated encyclopedia of DNA elements in the human genome.
ENCODE Project Consortium, Dunham I., Dunham I., Kundaje A., Aldred S.F., Collins P.J., Davis C.A., Doyle F., Epstein C.B., Frietze S. et al., 2012. Nature, 489 (7414) pp. 57-74.
 
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.
Howald C., Tanzer A., Chrast J., Kokocinski F., Derrien T., Walters N., Gonzalez J.M., Frankish A., Aken B.L., Hourlier T. et al., 2012. Genome Research, 22 (9) pp. 1698-1710.
 
Detecting long-range chromatin interactions using the chromosome conformation capture sequencing (4C-seq) method.
Gheldof N., Leleu M., Noordermeer D., Rougemont J., Reymond A., 2012. Methods in Molecular Biology, 786 pp. 211-225.
Evidence for transcript networks composed of chimeric RNAs in human cells.
Djebali S., Lagarde J., Kapranov P., Lacroix V., Borel C., Mudge J.M., Howald C., Foissac S., Ucla C., Chrast J. et al., 2012. PLoS One, 7 (1) pp. e28213.
 
GENCODE: the reference human genome annotation for The ENCODE Project.
Harrow J., Frankish A., Gonzalez J.M., Tapanari E., Diekhans M., Kokocinski F., Aken B.L., Barrell D., Zadissa A., Searle S. et al., 2012. Genome Research, 22 (9) pp. 1760-1774.
 
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Golzio C., Willer J., Talkowski M.E., Oh E.C., Taniguchi Y., Jacquemont S., Reymond A., Sun M., Sawa A., Gusella J.F. et al., 2012. Nature, 485 (7398) pp. 363-367.
 
Landscape of transcription in human cells.
Djebali S., Davis C.A., Merkel A., Dobin A., Lassmann T., Mortazavi A., Tanzer A., Lagarde J., Lin W., Schlesinger F. et al., 2012. Nature, 489 (7414) pp. 101-108.
Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling.
Hu B., Castillo E., Harewood L., Ostano P., Reymond A., Dummer R., Raffoul W., Hoetzenecker W., Hofbauer G.F., Dotto G.P., 2012. Cell, 149 (6) pp. 1207-1220. Peer-reviewed.
 
Structural variation and its effect on expression.
Harewood L., Chaignat E., Reymond A., 2012. Methods in Molecular Biology, 838 pp. 173-186.
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome.
Fusco C., Micale L., Egorov M., Monti M., D'Addetta E.V., Augello B., Cozzolino F., Calcagnì A., Fontana A., Polishchuk R.S. et al., 2012. PLoS One, 7 (7) pp. e40440.
The GENCODE pseudogene resource.
Pei B., Sisu C., Frankish A., Howald C., Habegger L., Mu X.J., Harte R., Balasubramanian S., Tanzer A., Diekhans M. et al., 2012. Genome Biology, 13 (9) pp. R51.
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Diez-Roux G., Banfi S., Sultan M., Geffers L., Anand S., Rozado D., Magen A., Canidio E., Pagani M., Peluso I. et al., 2011. PLoS Biology, 9 (1) pp. e1000582.
 
A user's guide to the encyclopedia of DNA elements (ENCODE).
ENCODE Project Consortium, 2011. Plos Biology, 9 (4) pp. e1001046.
 
Copy number variation modifies expression time courses.
Chaignat E., Yahya-Graison E.A., Henrichsen C.N., Chrast J., Schütz F., Pradervand S., Reymond A., 2011. Genome Research, 21 (1) pp. 106-113.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S., Reymond A., Zufferey F., Harewood L., Walters R.G., Kutalik Z., Martinet D., Shen Y., Valsesia A., Beckmann N.D. et al., 2011. Nature, 478 (7367) pp. 97-102.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L., Augello B., Fusco C., Selicorni A., Loviglio M.N., Silengo M.C., Reymond A., Gumiero B., Zucchetti F., D'Addetta E.V. et al., 2011. Orphanet Journal of Rare Diseases, 6 (1) p. 38.
The origins, evolution, and functional potential of alternative splicing in vertebrates.
Mudge J.M., Frankish A., Fernandez-Banet J., Alioto T., Derrien T., Howald C., Reymond A., Guigó R., Hubbard T., Harrow J., 2011. Molecular Biology and Evolution, 28 (10) pp. 2949-2959.
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.
Henrichsen C.N., Csárdi G., Zabot M.T., Fusco C., Bergmann S., Merla G., Reymond A., 2011. PLoS Computational Biology, 7 (1) pp. e1001054. Peer-reviewed.
 
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters R.G., Jacquemont S., Valsesia A., de Smith A.J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S. et al., 2010. Nature, 463 (7281) pp. 671-675. Peer-reviewed.
 
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
Gimelli S., Chrast J., Baban A., Henrichsen C.N., Lerone M., Zuffardi O., Gimelli G., Reymond A., 2010. American Journal of Medical Genetics. Part A, 152A (5) pp. 1285-1294. Peer-reviewed.
 
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Ferrero G.B., Howald C., Micale L., Biamino E., Augello B., Fusco C., Turturo M.G., Forzano S., Reymond A., Merla G., 2010. European Journal of Human Genetics, 18 (1) pp. 33-38. Peer-reviewed.
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Ricard G., Molina J., Chrast J., Gu W., Gheldof N., Pradervand S., Schütz F., Young J.I., Lupski J.R., Reymond A. et al., 2010. PLoS Biology, 8 (11) pp. e1000543. Peer-reviewed.
 
The effect of translocation-induced nuclear reorganization on gene expression.
Harewood L., Schütz F., Boyle S., Perry P., Delorenzi M., Bickmore W.A., Reymond A., 2010. Genome Research, 20 (5) pp. 554-564. Peer-reviewed.
Copy number variants, diseases and gene expression.
Henrichsen C.N., Chaignat E., Reymond A., 2009. Human Molecular Genetics, 18 (R1) pp. R1-R8. Peer-reviewed.
Identifying protein-coding genes in genomic sequences.
Harrow J., Nagy A., Reymond A., Alioto T., Patthy L., Antonarakis S.E., Guigó R., 2009. Genome biology, 10 (1) p. 201. Peer-reviewed.
 
Segmental copy number variation shapes tissue transcriptomes.
Henrichsen C.N., Vinckenbosch N., Zöllner S., Chaignat E., Pradervand S., Schütz F., Ruedi M., Kaessmann H., Reymond A., 2009. Nature Genetics, 41 (4) pp. 424-429. Peer-reviewed.
 
The genome sequence of taurine cattle: a window to ruminant biology and evolution.
Bovine Genome Sequencing, Analysis Consortium, Elsik C.G., Tellam R.L., Worley K.C., Gibbs R.A., Muzny D.M., Weinstock G.M., Adelson D.L., Eichler E.E. et al., 2009. Science, 324 (5926) pp. 522-528. Peer-reviewed.
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
Makrythanasis P., Kapranov P., Bartoloni L., Reymond A., Deutsch S., Guigó R., Denoeud F., Drenkow J., Rossier C., Ariani F. et al., 2009. Human Mutation, 30 (9) pp. E866-E879. Peer-reviewed.
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Molina J., Carmona-Mora P., Chrast J., Krall P.M., Canales C.P., Lupski J.R., Reymond A., Walz K., 2008. Human Molecular Genetics, 17 (16) pp. 2486-2495. Peer-reviewed.
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells.
Attanasio C., Reymond A., Humbert R., Lyle R., Kuehn M.S., Neph S., Sabo P.J., Goldy J., Weaver M., Haydock A. et al., 2008. Genome biology, 9 (12) pp. R168. Peer-reviewed.
 
Efficient targeted transcript discovery via array-based normalization of RACE libraries.
Djebali S., Kapranov P., Foissac S., Lagarde J., Reymond A., Ucla C., Wyss C., Drenkow J., Dumais E., Murray R.R. et al., 2008. Nature Methods, 5 (7) pp. 629-635. Peer-reviewed.
 
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall C.R., Young E.J., Pani A.M., Freckmann M.L., Lacassie Y., Howald C., Fitzgerald K.K., Peippo M., Morris C.A., Shane K. et al., 2008. American Journal of Human Genetics, 83 (1) pp. 106-111. Peer-reviewed.
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Micale L., Fusco C., Augello B., Napolitano L.M., Dermitzakis E.T., Meroni G., Merla G., Reymond A., 2008. European Journal of Human Genetics, 16 (9) pp. 1038-1049. Peer-reviewed.
 
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
Birney E., Stamatoyannopoulos J.A., Dutta A., Guigó R., Gingeras T.R., Margulies E.H., Weng Z., Snyder M., Dermitzakis E.T., Thurman R.E. et al., 2007. Nature, 447 (7146) pp. 799-816. Peer-reviewed.
 
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
Lyle R., Prandini P., Osoegawa K., ten Hallers B., Humphray S., Zhu B., Eyras E., Castelo R., Bird C.P., Gagos S. et al., 2007. Genome Research, 17 (11) pp. 1690-1696. Peer-reviewed.
 
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
Denoeud F., Kapranov P., Ucla C., Frankish A., Castelo R., Drenkow J., Lagarde J., Alioto T., Manzano C., Chrast J. et al., 2007. Genome Research, 17 (6) pp. 746-759. Peer-reviewed.
 
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution.
Zheng D., Frankish A., Baertsch R., Kapranov P., Reymond A., Choo S.W., Lu Y., Denoeud F., Antonarakis S.E., Snyder M. et al., 2007. Genome Research, 17 (6) pp. 839-851. Peer-reviewed.
 
Side effects of genome structural changes.
Reymond A., Henrichsen C.N., Harewood L., Merla G., 2007. Current Opinion in Genetics and Development, 17 (5) pp. 381-386. Peer-reviewed.
 
Structured RNAs in the ENCODE selected regions of the human genome.
Washietl S., Pedersen J.S., Korbel J.O., Stocsits C., Gruber A.R., Hackermüller J., Hertel J., Lindemeyer M., Reiche K., Tanzer A. et al., 2007. Genome Research, 17 (6) pp. 852-864. Peer-reviewed.
 
The implications of alternative splicing in the ENCODE protein complement.
Tress M.L., Martelli P.L., Frankish A., Reeves G.A., Wesselink J.J., Yeats C., Olason P.I., Albrecht M., Hegyi H., Giorgetti A. et al., 2007. Proceedings of the National Academy of Sciences of the United States of America, 104 (13) pp. 5495-5500. Peer-reviewed.
 
Chromosome 21, Disorders
Deutsch S., Antonarakis S., Reymond A., 2006. pp. 280-287 dans Ganten D., Ruckpaul K. (eds.) Encyclopedic reference of genomics and proteomics in molecular medicine, Springer.
 
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Drake J.A., Bird C., Nemesh J., Thomas D.J., Newton-Cheh C., Reymond A., Excoffier L., Attar H., Antonarakis S.E., Dermitzakis E.T. et al., 2006. Nature Genetics, 38 (2) pp. 223-227. Peer-reviewed.
EGASP: the human ENCODE Genome Annotation Assessment Project.
Guigó R., Flicek P., Abril J.F., Reymond A., Lagarde J., Denoeud F., Antonarakis S., Ashburner M., Bajic V.B., Birney E. et al., 2006. Genome Biology, 7 Suppl 1 pp. S2.1-S231. Peer-reviewed.
GENCODE: producing a reference annotation for ENCODE.
Harrow J., Denoeud F., Frankish A., Reymond A., Chen C.K., Chrast J., Lagarde J., Gilbert J.G., Storey R., Swarbreck D. et al., 2006. Genome Biology, 7 Suppl 1 pp. S4.1-S4.9. Peer-reviewed.
 
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
Merla G., Howald C., Henrichsen C.N., Lyle R., Wyss C., Zabot M.T., Antonarakis S.E., Reymond A., 2006. American Journal of Human Genetics, 79 (2) pp. 332-341. Peer-reviewed.
 
Tandem chimerism as a means to increase protein complexity in the human genome.
Parra G., Reymond A., Dabbouseh N., Dermitzakis E.T., Castelo R., Thomson T.M., Antonarakis S.E., Guigó R., 2006. Genome Research, 16 (1) pp. 37-44.
The future is genome-wide.
Deutsch S., Reymond A., 2006. Genome Biology, 7 (8) p. 324.
 
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
Howald C., Merla G., Digilio M.C., Amenta S., Lyle R., Deutsch S., Choudhury U., Bottani A., Antonarakis S.E., Fryssira H. et al., 2006. Journal of Medical Genetics, 43 (3) pp. 266-273. Peer-reviewed.
 
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M., Sahin-Calapoglu N., Andreasen D., Kalay E., Caylan R., Braillard B., Fowler-Jaeger N., Reymond A., Rossier B.C., Karaguzel A. et al., 2005. Human Genetics, 117 (6) pp. 528-535. Peer-reviewed.
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
Castelo R., Reymond A., Wyss C., Câmara F., Parra G., Antonarakis S.E., Guigó R., Eyras E., 2005. Nucleic Acids Research, 33 (6) pp. 1935-1939.
 
Conserved non-genic sequences - an unexpected feature of mammalian genomes.
Dermitzakis E.T., Reymond A., Antonarakis S.E., 2005. Nature Reviews. Genetics, 6 (2) pp. 151-157. Peer-reviewed.
 
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M., Reymond A., Falciola V., Charollais A., Caille D., Borel C., Lyle R., Estivill X., Petersen M.B., Meda P. et al., 2005. Human Mutation, 25 (6) pp. 543-549. Peer-reviewed.
 
DNA sequence evolution and phylogenetic footprinting.
Dermitzakis E.T., Reymond A., 2005. pp. 301-316 dans Ruvinsky A., Marshall Graves J.A. (eds.) Mammalian Genomics chap. 12, CAB International (CABI).
Emergence of young human genes after a burst of retroposition in primates.
Marques A.C., Dupanloup I., Vinckenbosch N., Reymond A., Kaessmann H., 2005. Plos Biology, 3 (11) pp. e357. Peer-reviewed.
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L., Dermitzakis E.T., Unger S., Greenberg C.R., Campos-Xavier B.A., Zankl A., Ucla C., Antonarakis S.E., Superti-Furga A., Reymond A., 2005. Plos Genetics, 1 (4) pp. e47. Peer-reviewed.
Gene finding in the chicken genome.
Eyras E., Reymond A., Castelo R., Bye J.M., Camara F., Flicek P., Huckle E.J., Parra G., Shteynberg D.D., Wyss C. et al., 2005. BMC Bioinformatics, 6 p. 131. Peer-reviewed.
 
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? Reply
Antonarakis SE, Reymond A, Menzel O, Bekkeheien RC, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS et al., 2005. Human Mutation, 25 (3) pp. 316-316.
 
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
Mehenni H., Lin-Marq N., Buchet-Poyau K., Reymond A., Collart M.A., Picard D., Antonarakis S.E., 2005. Human Molecular Genetics, 14 (15) pp. 2209-2219. Peer-reviewed.
 
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Antonarakis S.E., Lyle R., Dermitzakis E.T., Reymond A., Deutsch S., 2004. Nature Reviews. Genetics, 5 (10) pp. 725-738.
 
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.
Dermitzakis E.T., Kirkness E., Schwarz S., Birney E., Reymond A., Antonarakis S.E., 2004. Genome Research, 14 (5) pp. 852-859. Peer-reviewed.
 
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Menzel O., Bekkeheien R.C., Reymond A., Fukai N., Boye E., Kosztolanyi G., Aftimos S., Deutsch S., Scott H.S., Olsen B.R. et al., 2004. Human Mutation, 23 (1) pp. 77-84. Peer-reviewed.
 
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution.
International Chicken Genome Sequencing Consortium, including Duplanloup I., Kaessmann H., Reymond A., 2004. Nature, 432 (7018) pp. 695-716.
 
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.
Menzel O., Vellai T., Takacs-Vellai K., Reymond A., Mueller F., Antonarakis S.E., Guipponi M., 2004. Genomics, 84 (2) pp. 320-330. Peer-reviewed.
 
The ENCODE (ENCyclopedia Of DNA Elements) Project.
ENCODE Project Consortium, 2004. Science, 306 (5696) pp. 636-640.
 
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.
Merla G., Howald C., Antonarakis S.E., Reymond A., 2004. Human Molecular Genetics, 13 (14) pp. 1505-1514. Peer-reviewed.
 
Chromosome 21 and Down syndrome: the post-sequence era.
Antonarakis S.E., Reymond A., Lyle R., Deutsch S., Dermitzakis E.T., 2003. Cold Spring Harbor Symposia on Quantitative Biology, 68 pp. 425-430.
 
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes.
Guigo R., Dermitzakis E.T., Agarwal P., Ponting C.P., Parra G., Reymond A., Abril J.F., Keibler E., Lyle R., Ucla C. et al., 2003. Proceedings of the National Academy of Sciences of the United States of America, 100 (3) pp. 1140-1145.
 
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).
Dermitzakis E.T., Reymond A., Scamuffa N., Ucla C., Kirkness E., Rossier C., Antonarakis S.E., 2003. Science, 302 (5647) pp. 1033-1035.
 
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Friedli M., Guipponi M., Bertrand S., Bertrand D., Neerman-Arbez M., Scott H.S., Antonarakis S.E., Reymond A., 2003. Gene, 320 pp. 31-40.
 
The TPTE gene family: cellular expression, subcellular localization and alternative splicing.
Tapparel C., Reymond A., Girardet C., Guillou L., Lyle R., Lamon C., Hutter P., Antonarakis S.E., 2003. Gene, 323 pp. 189-199.
 
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
Antonarakis S.E., Lyle R., Deutsch S., Reymond A., 2002. International Journal of Developmental Biology, 46 (1) pp. 89-96.
 
Human chromosome 21 gene expression atlas in the mouse.
Reymond A., Marigo V., Yaylaoglu M.B., Leoni A., Ucla C., Scamuffa N., Caccioppoli C., Dermitzakis E.T., Lyle R., Banfi S. et al., 2002. Nature, 420 (6915) pp. 582-586.
 
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
Merla G., Ucla C., Guipponi M., Reymond A., 2002. Human Genetics, 110 (5) pp. 429-438.
 
Initial sequencing and comparative analysis of the mouse genome.
Mouse Genome Sequencing Consortium, Waterston R.H., Waterston R.H., Lindblad-Toh K., Birney E., Rogers J., Abril J.F., Agarwal P., Agarwala R., Ainscough R. et al., 2002. Nature, 420 (6915) pp. 520-562.
 
Nineteen additional unpredicted transcripts from human chromosome 21.
Reymond A., Camargo A.A., Deutsch S., Stevenson B.J., Parmigiani R.B., Ucla C., Bettoni F., Rossier C., Lyle R., Guipponi M. et al., 2002. Genomics, 79 (6) pp. 824-832.
 
Numerous potentially functional but non-genic conserved sequences on human chromosome 21.
Dermitzakis E.T., Reymond A., Lyle R., Scamuffa N., Ucla C., Deutsch S., Stevenson B.J., Flegel V., Bucher P., Jongeneel C.V. et al., 2002. Nature, 420 (6915) pp. 578-582.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M., Vuagniaux G., Wattenhofer M., Shibuya K., Vazquez M., Dougherty L., Scamuffa N., Guida E., Okui M., Rossier C. et al., 2002. Human Molecular Genetics, 11 (23) pp. 2829-2836.
 
TRIM9 is specifically expressed in the embryonic and adult nervous system.
Berti C., Messali S., Ballabio A., Reymond A., Meroni G., 2002. Mechanisms of Development, 113 (2) pp. 159-162.
 
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity.
Forus A., D'Angelo A., Henriksen J., Merla G., Maelandsmo G.M., Flørenes V.A., Olivieri S., Bjerkehagen B., Meza-Zepeda L.A., del Vecchio Blanco F. et al., 2001. Oncogene, 20 (47) pp. 6881-6890.
 
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Reymond A., Friedli M., Henrichsen C.N., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E., 2001. Genomics, 78 (1-2) pp. 46-54.
 
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.
Guipponi M., Tapparel C., Jousson O., Scamuffa N., Mas C., Rossier C., Hutter P., Meda P., Lyle R., Reymond A. et al., 2001. Human Genetics, 109 (6) pp. 569-575.
 
The tripartite motif family identifies cell compartments.
Reymond A., Meroni G., Fantozzi A., Merla G., Cairo S., Luzi L., Riganelli D., Zanaria E., Messali S., Cainarca S. et al., 2001. EMBO Journal, 20 (9) pp. 2140-2151.
 
WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.
Cairo S., Merla G., Urbinati F., Ballabio A., Reymond A., 2001. Human Molecular Genetics, 10 (6) pp. 617-627.
 
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?
Meroni G., Cairo S., Merla G., Messali S., Brent R., Ballabio A., Reymond A., 2000. Oncogene, 19 (29) pp. 3266-3277.
 
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.
Reymond A., Volorio S., Merla G., Al-Maghtheh M., Zuffardi O., Bulfone A., Ballabio A., Zollo M., 1999. Oncogene, 18 (51) pp. 7244-7252.
 
Molecular cloning and characterization of a novel retinoblastoma-binding protein.
Fusco C., Reymond A., Zervos A.S., 1998. Genomics, 51 (3) pp. 351-358.
 
The human ROX gene: genomic structure and mutation analysis in human breast tumors.
Lo Nigro C., Venesio T., Reymond A., Meroni G., Alberici P., Cainarca S., Enrico F., Stack M., Ledbetter D.H., Liscia D.S. et al., 1998. Genomics, 49 (2) pp. 275-282.
 
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
Meroni G., Reymond A., Alcalay M., Borsani G., Tanigami A., Tonlorenzi R., Lo Nigro C., Messali S., Zollo M., Ledbetter D.H. et al., 1997. EMBO Journal, 16 (10) pp. 2892-2906.
 
p16 proteins from melanoma-prone families are deficient in binding to Cdk4.
Reymond A., Brent R., 1995. Oncogene, 11 (6) pp. 1173-1178.
 
The S. pombe cdc15 gene is a key element in the reorganization of F-actin at mitosis.
Fankhauser C., Reymond A., Cerutti L., Utzig S., Hofmann K., Simanis V., 1995. Cell, 82 (3) pp. 435-444.
 
Domains of p85cdc10 required for function of the fission yeast DSC-1 factor.
Reymond A., Simanis V., 1993. Nucleic Acids Research, 21 (16) pp. 3615-3621.
 
The activity of S.pombe DSC-1-like factor is cell cycle regulated and dependent on the activity of p34cdc2.
Reymond A., Marks J., Simanis V., 1993. Embo Journal, 12 (11) pp. 4325-4334.
 
The S. pombe cdc16 gene is required both for maintenance of p34cdc2 kinase activity and regulation of septum formation: a link between mitosis and cytokinesis?
Fankhauser C., Marks J., Reymond A., Simanis V., 1993. EMBO Journal, 12 (7) pp. 2697-2704.
 
Cytoskeletal and DNA structure abnormalities result from bypass of requirement for the cdc10 start gene in the fission yeast Schizosaccharomyces pombe.
Marks J., Fankhauser C., Reymond A., Simanis V., 1992. Journal of Cell Science, 101 (3) pp. 517-528.
 
Mutations in the cdc10 start gene of Schizosaccharomyces pombe implicate the region of homology between cdc10 and SWI6 as important for p85cdc10 function.
Reymond A., Schmidt S., Simanis V., 1992. Molecular and General Genetics, 234 (3) pp. 449-456.
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