Pawel Stankiewicz

发表

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Anna Gambin, Tomasz Gambin, Maciej Sykulski, 2011, BIBM.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Yanming Feng, Fan Xia, Tomasz Gambin, 2019, Genome Medicine.

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

David C. Schwartz, Jane Loveland, Eric S. Lander, 2006, Nature.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Rosanna Weksberg, Pawel Stankiewicz, Hiroshi Takashima, 2002, Nature Genetics.

Somatic mosaicism: implications for disease and transmission genetics.

Chad A Shaw, Pawel Stankiewicz, P. Stankiewicz, 2015, Trends in genetics : TIG.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

Pawel Stankiewicz, P. Stankiewicz, A. Beaudet, 2007, Current opinion in genetics & development.

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Adrian Gherman, Tanya M. Teslovich, Aravinda Chakravarti, 2007, PLoS genetics.

Genomic disorders : the genomic basis of disease

Pawel Stankiewicz, P. Stankiewicz, J. Lupski, 2006 .

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Pawel Stankiewicz, P. Stankiewicz, J. Lupski, 2005, PLoS genetics.