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 TitleAuthors / EditorsDate
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Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome Glaser, Bronwyn; Debbané, Martin; Ottet, Marie-Christine; Vuilleumier, Patrik; ... Eliez, Stéphan 2010
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Factor VIII gene inversions in severe hemophilia A: results of an international consortium study Antonarakis, Stylianos 1995
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Familial epilepsy in Algeria: Clinical features and inheritance profiles Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos 2015
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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
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Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3 Lasseter, V. K.; Pulver, A. E.; Wolyniec, P. S.; Nestadt, G.; ... Kasch, L. 1995
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Fortuitous detection of uniparental isodisomy of chromosome 6 Bittencourt, M. C.; Morris, Michael Andréw; Chabod, J.; Gos, A.; ... Tiberghien, P. 1997
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FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis 2003
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Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation Everman, D. B.; Morgan, C. T.; Lyle, Robert; Laughridge, M. E.; ... Schwartz, C. E. 2006
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Frequency of replication/transcription errors in (A)/(T) runs of human genes Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos 2001
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Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations Nikolaev, Sergey Igorievich; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; ... Antonarakis, Stylianos 2014
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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map Reymond, Alexandre; Friedli, Marc; Henrichsen, C. N.; Chapot, F.; ... Antonarakis, Stylianos 2001
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From sequence to functional understanding: the difficult road ahead Makrythanasis, Periklis; Antonarakis, Stylianos 2011
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Functional genetic variation of human miRNAs and phenotypic consequences Borel, Christelle; Antonarakis, Stylianos 2008
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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans Popadin, Konstantin; Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Buil Demur, Alfonso Alberto; ... Antonarakis, Stylianos 2014
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Gene duplication: a drive for phenotypic diversity and cause of human disease Conrad, Bernard; Antonarakis, Stylianos 2007
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Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome Lyle, Robert; Gehrig, Corinne; Neergaard-Henrichsen, Charlotte; Deutsch, Samuel; Antonarakis, Stylianos 2004
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Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Deutsch, Samuel; Lyle, Robert; Dermitzakis, Emmanouil; Attar, Homa; ... Antonarakis, Stylianos 2005
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Gene finding in the chicken genome Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. 2005
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Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R. 2001
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Gene structure and chromosomal localization of the human P2X7 receptor Buell, G. N.; Talabot, F.; Gos, A.; Lorenz, J.; ... Antonarakis, Stylianos 1998
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Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome Driess, S.; Freese, K.; Bornholdt, D.; Kobelt, A.; ... Kalff-Suske, M. 2003
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Genetic and epigenetic regulation of human lincRNA gene expression Popadin, Konstantin; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil; Antonarakis, Stylianos 2013
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos 2013
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Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. 2000
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Genetic structure of Europeans: a view from the North-East Nelis, Mari; Esko, Tonu; Antonarakis, Stylianos; Borel, Christelle; Gagnebin, Maryline 2009
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Genetic variability of mu-opioid receptor in an obstetric population Landau, Ruth; Cahana, Alex; Smiley, R. M.; Antonarakis, Stylianos; Blouin, Jean-Louis 2004
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Genome linkage scanning: systematic or intelligent? Antonarakis, Stylianos 1994
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia Lewis, C. M.; Blouin, Jean-Louis; Antonarakis, Stylianos 2003
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich 2016
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Genomic determinants in the phenotypic variability of Down syndrome Letourneau, Audrey; Antonarakis, Stylianos 2012
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Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin Kazadi, Kayole; Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; ... Telenti, Amalio 2008
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Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 Guipponi, Michel; Yaspo, M. L.; Riesselman, L.; Chen, H.; ... Antonarakis, Stylianos 2000
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Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2 Guipponi, Michel; Scott, Hamish Steele; Hattori, M.; Ishii, K.; ... Antonarakis, Stylianos 1998
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Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Jeffery, J. A.; ... Pulver, A. E. 1996
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich 2017
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Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee White, J. A.; McAlpine, P. J.; Antonarakis, Stylianos; Cann, H.; ... Povey, S. 1997
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Guidelines for investigating causality of sequence variants in human disease MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; ... Gunter, C 2014
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M 2016
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High-throughput sequencing and rare genetic diseases Makrythanasis, Periklis; Antonarakis, Stylianos 2012
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HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation Rosa, Annachiara; Chande, Ajit; Ziglio, Serena; De Sanctis, Veronica; ... Pizzato, Massimo 2015
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Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes Chen, H.; Lowther, W.; Avramopoulos, D.; Antonarakis, Stylianos 1994
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos 2015
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Human chromosome 21 gene expression atlas in the mouse Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea 2002
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