Poustka, Annemarie

Variance stabilization applied to microarray data calibration and to the quantification of differential expression

Huber, W., von Heydebreck, A., Sültmann, H., Poustka, A., & Vingron, M. (2002) · Bioinformatics

Gene expression and cancer classificationBioinformatics and Genomic Networks

Cited by 2,440

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 2,013

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics

Blood disorders and treatmentsNuclear Structure and Function

Cited by 976

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., & Dahl, N. (1996) · Nature Genetics

Muscle Physiology and DisordersProtein Tyrosine Phosphatases

Cited by 639

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., et al. (2012) · Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 200

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

Bacchelli, E., Blasi, F., Biondolillo, M., Lamb, J. A., Bonora, E., Barnby, G., Parr, J., Beyer, K. S., Klauck, S. M., Poustka, A., et al. (2003) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 117

Genomic organization of the adrenoleukodystrophy gene

Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 82