B. Conrad

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases

N. Guex, I. Xenarios, L. Farinelli, 2016, Genetics in Medicine.

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

B. Conrad, M. Callanan, J. Stéphan, 2012, Journal of Clinical Immunology.

Association of human endogenous retrovirus K-18 polymorphisms with type 1 diabetes.

J. Todd, B. Conrad, S. Marguerat, 2004, Diabetes.

Epstein-Barr virus transactivates the human endogenous retrovirus HERV-K18 that encodes a superantigen.

B. Conrad, B. Huber, D. Thorley-Lawson, 2001, Immunity.

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

B. Conrad, C. Haenggeli, A. Bottani, 2007, American journal of medical genetics. Part A.

Evidence for superantigen involvement in insulin-dependent diabetes mellitus aetiology

B. Conrad, C. Ricordi, D. Finegold, 1994, Nature.

Negative thymocyte selection to HERV-K18 superantigens in humans.

B. Conrad, S. Marguerat, G. Leclercq, 2005, Blood.

Interferon-α-Induced Endogenous Superantigen: A Model Linking Environment and Autoimmunity

C. Ucla, B. Conrad, S. Marguerat, 2001 .

Interferon-alpha-induced endogenous superantigen. a model linking environment and autoimmunity.

C. Ucla, B. Conrad, S. Marguerat, 2001, Immunity.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

P. Tonella, B. Conrad, J. Hardelin, 2010, The Journal of clinical endocrinology and metabolism.

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy

R. Kreis, B. Conrad, S. Gallati, 2011, Journal of Clinical Neuroscience.

No major contribution of the TGFBR1‐ and TGFBR2‐mediated pathway to Kabuki syndrome

B. Conrad, A. Toutain, I. Bouchardy, 2006, American journal of medical genetics. Part A.

Potential Mechanisms of Interferon-α Induced Autoimmunity

B. Conrad, 2003 .

Potential mechanisms of interferon-alpha induced autoimmunity.

B. Conrad, 2003, Autoimmunity.

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

B. Conrad, M. Callanan, J. Stéphan, 2012, Journal of Clinical Immunology.

Gene duplication: a drive for phenotypic diversity and cause of human disease.

S. Antonarakis, B. Conrad, Stylianos E Antonarakis, 2007, Annual review of genomics and human genetics.

A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features

F. Béna, B. Conrad, A. Bottani, 2007, American Journal of Medical Genetics. Part A.

A Human Endogenous Retroviral Superantigen as Candidate Autoimmune Gene in Type I Diabetes

B. Conrad, B. Mach, J. Böni, 1997, Cell.

Novel procedures for high-throughput analysis of a frequent insertion-deletion polymorphism in the human T-cell receptor beta locus

B. Conrad, 2004, Immunogenetics.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.

Superantigens as etiopathogenetic factors in the development of insulin-dependent diabetes mellitus.

B. Conrad, M. Trucco, 1994, Diabetes/metabolism reviews.

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

R. Aebersold, D. Hochstrasser, B. Conrad, 1998, Nature Genetics.

Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter

S. Antonarakis, B. Conrad, S. Marguerat, 2005, EMBO reports.

Energy-harnessing problem solving of primordial life: Modeling the emergence of catalytic host-nested parasite life cycles

B. Conrad, M. Pirovino, 2021, bioRxiv.

Combined islet-lung transplantation in a cystic fibrosis patient.

B. Conrad, T. Rochat, P. Morel, 1996, Schweizerische medizinische Wochenschrift. Supplementum.

Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation

S. Antonarakis, B. Conrad, M. Barker, 2007, American journal of medical genetics. Part A.

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal blood

I Xenarios, N. Guex, I. Xenarios, 2013, Prenatal diagnosis.

EVIDENCE FOR EARLY Th 2 T CELL PREDOMINANCE IN XENOREACTIVITY

B. Conrad, J. Fung, Stewart C. Wang, 1993, Transplantation.

In Response to Murphy et al., Löwer et al., and Lan et al

B. Conrad, 1998, Cell.

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal blood

B. Conrad, A. Syngelaki, C. Deluen, 2013, Prenatal diagnosis.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.