SamuelDeutschMD

PubMed

• 206 citations
  Domains of genome-wide gene expression dysregulation in Down/'s syndrome
  Audrey Letourneau, Federico Santoni, Ximena Bonilla, M. Reza Sailani, David Gonzalez, Jop Kind, Claire Chevalier, Robert E. Thurman, Richard Sandstrom, Youssef Hibaoui...> ;Nature. 2014 Apr 17
• 51 citations
  The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
  M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Federico Santoni, Samuel Deutsch, Konstantin Popadin, Christelle Borel, Eugenia Migliavacca, Andrew J. Sharp,...> ;Genome Research. 2013 Jun 19
• 13 citations
  Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
  Uppala Radhakrishna, Uppala Ratnamala, Samuel Deutsch, Lucia Bartoloni, Murali R. Kuracha, Raminder Singh, Jasjit K. Banwait, Dhundy Bastola, Kaid Johar, Swapan K. Nat...> ;European Journal of Human Genetics. 2012 Oct 1
• 86 citations
  A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
  Patricia Lopes Pereira, Laetitia Magnol, Ignasi Sahún, Véronique Brault, Arnaud Duchon, Paola Prandini, Agnès Gruart, Jean-Charles Bizot, Bernadette Chadefaux-Vekemans...> ;Human Molecular Genetics. 2009 Dec 15
• 1 citations
  Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
  Periklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, Alexandre Reymond, Samuel Deutsch, Roderic Guigó, Jorg Drenkow, Colette Rossier, Francesca Ariani, Valeria C...> ;Human Mutation. 2009 Sep 1
• 50 citations
  In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
  Corinne Loeuillet, Samuel Deutsch, Angela Ciuffi, Daniel Robyr, Patrick Taffé, Miguel Munoz, Jacques S. Beckmann, Stylianos E. Antonarakis, Amalio Telenti> ;Plos Biology. 2008 Feb 19
• 16 citations
  Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical a...
  Mohammed Naveed, Mahmoud Taleb Al-Ali, Sabita K. Murthy, Sarah Al-Hajali, Najib Al-Khaja, Samuel Deutsch, Armand Bottani, Stylianos E. Antonarakis, Swapan K. Nath, Upp...> ;American Journal of Medical Genetics. Part A. 2006 Jul 1
• 58 citations
  LRP5 gene polymorphisms and idiopathic osteoporosis in men
  Serge Ferrari, Samuel Deutsch, C. Baudoin, Martine Cohen-Solal, Agnès Ostertag, Stylianos E. Antonarakis, René Rizzoli, M.C. de Vernejoul> ;Bone. 2005 Dec 1
• 55 citations
  Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
  Cédric Howald, Giuseppe Merla, Maria Cristina Digilio, Styliani Amenta, Robert Lyle, Samuel Deutsch, Urmila Choudhury, Armand Bottani, Stylianos E. Antonarakis, Helen ...> ;Journal of Medical Genetics. 2005 Jul 1
• 439 citations
  Chromosome 21 and down syndrome: from genomics to pathophysiology.
  Stylianos E. Antonarakis, Robert Lyle, Emmanouil T. Dermitzakis, Alexandre Reymond, Samuel Deutsch> ;Nature Reviews. Genetics. 2004 Oct 1
• 73 citations
  Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
  Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, György Kosztolányi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olse...> ;Human Mutation. 2004 Jan 1
• 32 citations
  From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
  Alexandre Reymond, Marc Friedli, Charlotte N. Henrichsen, Fabian Chapot, Samuel Deutsch, Catherine Ucla, Colette Rossier, Robert Lyle, Michel Guipponi, Stylianos E. An...> ;Genomics. 2001 Nov 1
• 19 citations
  Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of t...
  Ph. Beris, M. Solenthaler, Samuel Deutsch, R. Darbellay, Andreas Tobler, M.-L. Bochaton-Pialat, G. Gabbiani> ;British Journal of Haematology. 1999 Jun 1
• Join now to see all