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Samuel Deutsch

Research Profile

Anatomy

Genes & Molecular Sequences

Disorders

Down's Syndrome

Physiology

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Publications

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Uppala Radhakrishna; Uppala Ratnamala; Raminder Singh; Jasjit Banwait; Lucia Bartoloni; Dhundy K Bastola; Samuel Deutsch; Kaid Johar; Murali R Kuracha; Swapan K Nath; Stylianos E Antonarakis
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Homa Attar; Karen Bedard; Christelle Borel; jean maurice delabar; Emmanouil T Dermitzakis; Patrick Descombes; Samuel Deutsch; Yann Dupré; Maryline Gagnebin; Karl-Heinz Krause; Divya Mehta; Thomas Meitinger; Eugenia Migliavacca; Holger Prokisch; Erich Wichmann; Stylianos E Antonarakis
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
Christelle Borel; Samuel Deutsch; Audrey Letourneau; Eugenia Migliavacca; Stephen B Montgomery; Antigone S Dimas; Charles E Vejnar; Homa Attar; Maryline Gagnebin; Corinne Gehrig; Emilie Falconnet; Yann Dupré; Emmanouil T Dermitzakis; Stylianos E Antonarakis
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.

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All Publications

2012: Uppala Radhakrishna; Uppala Ratnamala; Raminder Singh; Jasjit Banwait; Lucia Bartoloni; Dhundy K Bastola; Samuel Deutsch; Kaid Johar; Murali R Kuracha; Swapan K Nath; Stylianos E Antonarakis
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
European journal of human genetics : EJHG 2012;20(10):1032-6.
2012: Homa Attar; Karen Bedard; Christelle Borel; jean maurice delabar; Emmanouil T Dermitzakis; Patrick Descombes; Samuel Deutsch; Yann Dupré; Maryline Gagnebin; Karl-Heinz Krause; Divya Mehta; Thomas Meitinger; Eugenia Migliavacca; Holger Prokisch; Erich Wichmann; Stylianos E Antonarakis
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
PloS one 2012;7(8):e43566.
2011: Christelle Borel; Samuel Deutsch; Audrey Letourneau; Eugenia Migliavacca; Stephen B Montgomery; Antigone S Dimas; Charles E Vejnar; Homa Attar; Maryline Gagnebin; Corinne Gehrig; Emilie Falconnet; Yann Dupré; Emmanouil T Dermitzakis; Stylianos E Antonarakis
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Genome research 2011;21(1):68-73.
2009: Christelle Stouder; Samuel Deutsch; Ariane Paoloni-Giacobino
Superovulation in mice alters the methylation pattern of imprinted genes in the sperm of the offspring.
Reproductive toxicology (Elmsford, N.Y.) 2009;28(4):536-41.
2009: Michel Guipponi; Samuel Deutsch; Karine Kohler; Nader Perroud; François Le Gal; Monique Vessaz; Térèse Laforge; Brice Petit; Fabrice Jollant; Sébastien Guillaume; Patrick Baud; Philippe Courtet; Romano La Harpe; Alain Malafosse
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):799-807.
2009: Antigone S Dimas; Samuel Deutsch; Barbara E Stranger; Stephen B Montgomery; Christelle Borel; Homa Attar-Cohen; Catherine E Ingle; Claude Beazley; Maria Gutierrez Arcelus; Magdalena Sekowska; Marilyne Gagnebin; James Nisbett; Panos Deloukas; Emmanouil T Dermitzakis; Stylianos E Antonarakis
Common regulatory variation impacts gene expression in a cell type-dependent manner.
Science (New York, N.Y.) 2009;325(5945):1246-50.
2009: Periklis Makrythanasis; Philipp Kapranov; Lucia Bartoloni; Alexandre Reymond; Samuel Deutsch; Roderic Guigó; France Denoeud; Jorg Drenkow; Colette Rossier; Francesca Ariani; Valeria Capra; Laurent Excoffier; Alessandra Renieri; Thomas Gingeras; Stylianos E Antonarakis
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
Human mutation 2009;30(9):E866-79.
2009: Sergey I Nikolaev; Samuel Deutsch; Raphael Genolet; Christelle Borel; Leila Parand; Catherine Ucla; Frederic Schütz; Genevieve Duriaux Sail; Yann Dupré; Pascale Jaquier-Gubler; Tanguy Araud; Béatrice Conne; Patrick Descombes; Jean-Dominique Vassalli; Joseph Curran; Stylianos E Antonarakis
Transcriptional and post-transcriptional profile of human chromosome 21.
Genome research 2009;19(8):1471-9.
2007: Robert Lyle; Paola Prandini; Kazutoyo Osoegawa; Boudewijn ten Hallers; Sean Humphray; Baoli Zhu; Eduardo Eyras; Robert Castelo; Christine P Bird; Sarantis Gagos; Carol Scott; Antony Cox; Samuel Deutsch; Catherine Ucla; Marc Cruts; Sophie Dahoun; Xinwei She; Frederique Bena; Sheng-Yue Wang; Christine Van Broeckhoven; Evan E Eichler; Roderic Guigo; Jane Rogers; Pieter J de Jong; Alexandre Reymond; Stylianos E Antonarakis
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
Genome research 2007;17(11):1690-6.
2007: Praveen Sethupathy; Christelle Borel; Maryline Gagnebin; Gregory R Grant; Samuel Deutsch; Terry S Elton; Artemis G Hatzigeorgiou; Stylianos E Antonarakis
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
American journal of human genetics 2007;81(2):405-13.
2007: Paola Prandini; Samuel Deutsch; Robert Lyle; Maryline Gagnebin; Celine Delucinge Vivier; Mauro Delorenzi; Corinne Gehrig; Patrick Descombes; Stephanie L Sherman; Franca Dagna Bricarelli; Chiara Baldo; Antonio Novelli; Bruno Dallapiccola; Stylianos E Antonarakis
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
American journal of human genetics 2007;81(2):252-63.
2007: Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al Ali; Najib Al Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
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.
American journal of human genetics 2007;80(1):105-11.
2006: Mohammed Naveed; Mahmoud T Al Ali; Sabita K Murthy; Sarah Al-Hajali; Najib Al Khaja; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Swapan K Nath; Uppala Radhakrishna
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
American journal of medical genetics. Part A 2006;140(13):1440-6.
2006: Cédric Howald; Giuseppe Merla; M C Digilio; Styliani Amenta; Robert Lyle; Samuel Deutsch; Urmila Choudhury; Armand Bottani; Stylianos E Antonarakis; Helen Fryssira; B Dallapiccola; Alexandre Reymond
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
Journal of medical genetics 2006;43(3):266-73.
2006: Samuel Deutsch; Alexandre Reymond
The future is genome-wide.
Genome biology 2006;7(8):324.
2005: Barbara E Stranger; Matthew Forrest; andrew clark; Mark J Minichiello; Samuel Deutsch; Robert Lyle; Sarah Hunt; Brenda Kahl; Stylianos E Antonarakis; Simon Tavaré; Panos Deloukas; Emmanouil T Dermitzakis
Genome-wide associations of gene expression variation in humans.
PLoS genetics 2005;1(6):e78.
2005: Samuel Deutsch; Robert Lyle; Emmanouil T Dermitzakis; Homa Attar; Lakshman Subrahmanyan; Corinne Gehrig; Leila Parand; Maryline Gagnebin; Jacques Rougemont; Victor Jongeneel; Stylianos E Antonarakis
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.
Human molecular genetics 2005;14(23):3741-9.
2005: Serge L Ferrari; Samuel Deutsch; Claude Baudoin; Martine Cohen-Solal; Agnès Ostertag; Stylianos E Antonarakis; René Rizzoli; Marie-Christine de Vernejoul
LRP5 gene polymorphisms and idiopathic osteoporosis in men.
Bone 2005;37(6):770-5.
2005: Serge L Ferrari; Samuel Deutsch; Stylianos E Antonarakis
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.
Current opinion in lipidology 2005;16(2):207-14.
2004: Samuel Deutsch; Urmila Choudhury; Giuseppe Merla; Cédric Howald; A Sylvan; Stylianos E Antonarakis
Detection of aneuploidies by paralogous sequence quantification.
Journal of medical genetics 2004;41(12):908-15.
2004: Marguerite Neerman-Arbez; Myrna Germanos-Haddad; Konstantinos Tzanidakis; Dung Vu; Samuel Deutsch; Armelle David; Michael Morris; Philippe de Moerloose
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells.
Blood 2004;104(12):3618-23.
2004: Stylianos E Antonarakis; Robert Lyle; Emmanouil T Dermitzakis; Alexandre Reymond; Samuel Deutsch
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Nature reviews. Genetics 2004;5(10):725-38.
2004: Christophe Mas; Nichole Taske; Samuel Deutsch; Michel Guipponi; P Thomas; Athanasios Covanis; Mogens Laue Friis; Marianne Juel Kjeldsen; G P Pizzolato; J-G Villemure; Catherine Buresi; Michele Rees; A Malafosse; Mark Gardiner; Stylianos Antonarakis; Paolo Meda
Association of the connexin36 gene with juvenile myoclonic epilepsy.
Journal of medical genetics 2004;41(7):e93.
2004: Robert Lyle; Corinne Gehrig; Charlotte Neergaard-Henrichsen; Samuel Deutsch; Stylianos E Antonarakis
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome.
Genome research 2004;14(7):1268-74.
2004: Serge L Ferrari; Samuel Deutsch; Urmila Choudhury; Thierry Chevalley; Jean-Philippe Bonjour; Emmanouil T Dermitzakis; René Rizzoli; Stylianos E Antonarakis
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.
American journal of human genetics 2004;74(5):866-75.
2004: Photis Beris; Samuel Deutsch; Régis Darbellay
Molecular pathology of thalassemia intermedia.
The hematology journal : the official journal of the European Haematology Association / EHA 2004;5 Suppl 3():S199-204.
2004: Olivier Menzel; Reidunn C J Bekkeheien; Alexandre Reymond; Naomi Fukai; Eileen Boye; Gyorgy Kosztolanyi; Salim Aftimos; Samuel Deutsch; Hamish Scott; Bjorn R Olsen; Stylianos E Antonarakis; Michel Guipponi
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Human mutation 2004;23(1):77-84.
2003: Samuel Deutsch; Alexandra Rideau; Marie-Luce Bochaton-Piallat; Giuseppe Merla; Antoine Geinoz; Giulio Gabbiani; Torsten Schwede; Thomas Matthes; Stylianos E Antonarakis; Photis Beris
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Blood 2003;102(2):529-34.
2003: Stylianos Antonarakis; Alexandre Reymond; Robert Lyle; Samuel Deutsch; Emmanouil T Dermitzakis
Chromosome 21 and Down syndrome: the post-sequence era.
Cold Spring Harbor symposia on quantitative biology 2003;68():425-30.
2002: Emmanouil T Dermitzakis; Alexandre Reymond; Robert Lyle; Nathalie Scamuffa; Catherine Ucla; Samuel Deutsch; Brian J Stevenson; Volker Flegel; Philipp Bucher; Victor Jongeneel; Stylianos E Antonarakis
Numerous potentially functional but non-genic conserved sequences on human chromosome 21.
Nature 2002;420(6915):578-82.
2002: Alexandre Reymond; Anamaria A Camargo; Samuel Deutsch; Brian J Stevenson; Raphael B Parmigiani; Catherine Ucla; Fabiana Bettoni; Colette Rossier; Robert Lyle; Michel Guipponi; Sandro de Souza; Christian Iseli; Victor Jongeneel; Philipp Bucher; Andrew J G Simpson; Stylianos E Antonarakis
Nineteen additional unpredicted transcripts from human chromosome 21.
Genomics 2002;79(6):824-32.
2002: Stylianos E Antonarakis; Robert Lyle; Samuel Deutsch; Alexandre Reymond
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.
The International journal of developmental biology 2002;46(1):89-96.
2001: Alexandre Reymond; Marc Friedli; Charlotte N Henrichsen; F Chapot; Samuel Deutsch; Catherine Ucla; Colette Rossier; Robert Lyle; Michel Guipponi; Stylianos E Antonarakis
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Genomics 2001;78(1-2):46-54.
2001: Samuel Deutsch; Christian Iseli; Philipp Bucher; Stylianos E Antonarakis; Hamish Scott
A cSNP map and database for human chromosome 21.
Genome research 2001;11(2):300-7.
1999: Samuel Deutsch; Régis Darbellay; R Offord; A Frutiger; J Kister; H Wajcman; Photis Beris
Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders.
American journal of hematology 1999;61(3):187-93.
1999: Photis Beris; Max Solenthaler; Samuel Deutsch; Régis Darbellay; Andreas Tobler; M L Bochaton-Pialat; G Gabbiani
Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.
British journal of haematology 1999;105(4):1074-80.