S E Antonarakis

发表

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

E S Lander, J L Blouin, R M Gardiner, 2001, Genomics.

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.

S Eliez, A L Reiss, M A Morris, 2001, Archives of general psychiatry.

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

A Gos, M A Morris, A Chakravarti, 1995, American journal of human genetics.

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.

J L Blouin, O Raoul, S. Antonarakis, 1994, American journal of human genetics.

Pathogenic variants in non‐protein‐coding sequences

S. Antonarakis, P. Makrythanasis, S. Antonarakis, 2013, Clinical genetics.

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

D. Housman, S. Antonarakis, J. McGrath, 2000, Molecular Psychiatry.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

Association of the connexin36 gene with juvenile myoclonic epilepsy

M Rees, J. Villemure, S. Antonarakis, 2004, Journal of Medical Genetics.

Thalassemia due to a mutation in the cleavage‐polyadenylation signal of the human beta‐globin gene.

S. Orkin, S. Antonarakis, H. Kazazian, 1985, The EMBO journal.

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

J L Blouin, S. Antonarakis, G. Thomas, 1993, American journal of human genetics.

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non‐syndromic autosomal recessive deafness

S. Antonarakis, C. Rossier, M. Guipponi, 2001, Human mutation.

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

S E Antonarakis, H H Kazazian, S P Trusko, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

S Minoshima, S. Antonarakis, N. Shimizu, 2000, Genomics.

From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.

A. Reymond, C. Ucla, C. N. Henrichsen, 2001, Genomics.

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

S. Antonarakis, A. Aguzzi, M. Prinz, 2000, Human molecular genetics.

The DNA sequence of human chromosome 21.

Y Sakaki, K Kumpf, E Soeda, 2000, Nature.