The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes

por Antonarakis, Stylianos E.
Publicado 2001

History of the methodology of disease gene identification

por Antonarakis, Stylianos E.
Publicado 2021

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

por Antonarakis, Stylianos E.
Publicado 2022

From sequence to functional understanding: the difficult road ahead

por Makrythanasis, Periklis, Antonarakis, Stylianos E
Publicado 2011

Haig H. Kazazian, Jr. (1937–2022)

por Antonarakis, Stylianos E., Orkin, Stuart H.
Publicado 2022

CATCHing putative causative variants in consanguineous families

por Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.
Publicado 2015

Three decades of the Human Genome Organization

por Lee, Charles, Antonarakis, Stylianos E., Hamosh, Ada, Burn, John
Publicado 2021

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report

por Hamamy, Hanan, Makrythanasis, Periklis, Al-Allawi, Nasir, Muhsin, Abdulrahman A, Antonarakis, Stylianos E
Publicado 2014

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

por Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Santoni, Federico A., Antonarakis, Stylianos E., Feki, Anis
Publicado 2014

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

por Rapti, Melivoia, Zouaghi, Yassine, Meylan, Jenny, Ranza, Emmanuelle, Antonarakis, Stylianos E, Santoni, Federico A
Publicado 2022

Identifying protein-coding genes in genomic sequences

por Harrow, Jennifer, Nagy, Alinda, Reymond, Alexandre, Alioto, Tyler, Patthy, Laszlo, Antonarakis, Stylianos E, Guigó, Roderic
Publicado 2009

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

por Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.
Publicado 2014

Next generation diagnostics on cardiomyopathy

por Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv
Publicado 2014

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

por Castelo, Robert, Reymond, Alexandre, Wyss, Carine, Câmara, Francisco, Parra, Genís, Antonarakis, Stylianos E., Guigó, Roderic, Eyras, Eduardo
Publicado 2005

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

por Seplyarskiy, Vladimir B., Soldatov, Ruslan A., Popadin, Konstantin Y., Antonarakis, Stylianos E., Bazykin, Georgii A., Nikolaev, Sergey I.
Publicado 2016

In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1

por Loeuillet, Corinne, Deutsch, Samuel, Ciuffi, Angela, Robyr, Daniel, Taffé, Patrick, Muñoz, Miguel, Beckmann, Jacques S, Antonarakis, Stylianos E, Telenti, Amalio
Publicado 2008

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

por Kazadi, Kayole, Loeuillet, Corinne, Deutsch, Samuel, Ciuffi, Angela, Muñoz, Miguel, Beckmann, Jacques S., Moradpour, Darius, Antonarakis, Stylianos E., Telenti, Amalio
Publicado 2008

Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing

por Nikolaev, Sergey I., Iseli, Christian, Sharp, Andrew J., Robyr, Daniel, Rougemont, Jacques, Gehrig, Corinne, Farinelli, Laurent, Antonarakis, Stylianos E.
Publicado 2009

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

por Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Publicado 2016

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes

por Raftopoulou, Christina, Roumelioti, Fani-Marlen, Dragona, Eleni, Gimelli, Stefanie, Sloan-Béna, Frédérique, Gorgoulis, Vasilis, Antonarakis, Stylianos E., Gagos, Sarantis
Publicado 2020