Alexandre Reymond

发表

Gene finding in the chicken genome

Eduardo Eyras, Paul Flicek, Stylianos E. Antonarakis, 2005, BMC Bioinformatics.

GENCODE reference annotation for the human and mouse genomes

Mark Gerstein, Tomás Di Domenico, Jane Loveland, 2018, Nucleic Acids Res..

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

Sven Bergmann, Gábor Csárdi, Alexandre Reymond, 2011, PLoS Comput. Biol..

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

Sebastian M. Waszak, Emmanouil T. Dermitzakis, Alexandre Reymond, 2014, Bioinform..

The tripartite motif family identifies cell compartments

Alessandro Guffanti, Daniela Riganelli, Alexandre Reymond, 2001, The EMBO journal.

Perspectives on ENCODE

Xintao Wei, Christopher B. Burge, Jason Liu, 2020, Nature.

The Origins, Evolution, and Functional Potential of Alternative Splicing in Vertebrates

Jonathan M. Mudge, Jennifer Harrow, Roderic Guigó, 2011, Molecular biology and evolution.

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

C. V. Jongeneel, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, 2002, Nature.

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Zoltán Kutalik, Kaido Lepik, Alexandre Reymond, 2019, Nature Communications.

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Alexandre Reymond, Giuseppe Merla, C. Howald, 2010, European Journal of Human Genetics.

Chromosome 21 and Down syndrome: from genomics to pathophysiology

Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, Alexandre Reymond, 2004, Nature Reviews Genetics.

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)

Jonathan M. Mudge, Jennifer Harrow, Roderic Guigó, 2016, Nature Communications.

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Vincent Frouin, Norman Delanty, Katrin Amunts, 2018, Molecular Psychiatry.

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Stylianos E. Antonarakis, Robert Castelo, Roderic Guigó, 2005, Nucleic acids research.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Zoltán Kutalik, Kaido Lepik, Alexandre Reymond, 2018, bioRxiv.

Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)

Alexandre Reymond, Emmanouil T Dermitzakis, E. Kirkness, 2003, Science.

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.

Alexandre Reymond, Robert Lyle, A. Reymond, 2002, The International journal of developmental biology.

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Alexandre Reymond, Katherina Walz, Paulina Carmona-Mora, 2008, Human molecular genetics.

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Alexandre Reymond, Emmanouil T Dermitzakis, Giuseppe Merla, 2008, European Journal of Human Genetics.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Fred H. Gage, Kelsi Penewit, Archana Raja, 2016, Nature.

Nineteen additional unpredicted transcripts from human chromosome 21.

C. V. Jongeneel, Christian Iseli, Brian J. Stevenson, 2002, Genomics.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Yadav Sapkota, Thomas Meitinger, Andres Metspalu, 2017, Nature Communications.

Efficient targeted transcript discovery via array-based normalization of RACE libraries

Sylvain Foissac, Philipp Kapranov, Thomas R. Gingeras, 2008, Nature Methods.

Comparative Analysis of the Transcriptome across Distant Species

Peter J. Bickel, Raymond K. Auerbach, Peter J. Park, 2014, Nature.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Alexandre Reymond, Giuseppe Merla, A. Reymond, 2002, Human Genetics.

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

Alexandre Reymond, Giuseppe Merla, C. Howald, 2004, Human molecular genetics.

The implications of alternative splicing in the ENCODE protein complement

Hagen Blankenburg, Fidel Ramírez, Thomas Lengauer, 2007, Proceedings of the National Academy of Sciences.

Human chromosome 21 gene expression atlas in the mouse

Gregor Eichele, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, 2002, Nature.

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Laurent Excoffier, Alexandre Reymond, Emmanouil T Dermitzakis, 2006, Nature Genetics.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution.

Philipp Kapranov, Jennifer Harrow, Roderic Guigó, 2007, Genome research.