Alexandra Kwasniewska

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise et al. · Brain · 2013 · 174 citations · Full text

Life Sciences, Genetics, Neurology +17

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Morag Shanks, Susan M. Downes, Richard R. Copley et al. · European Journal of Human Genetics · 2012 · 138 citations · Full text

Medicine, Neurology, Ophthalmology +11

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

Stefano Lise, Yvonne L. Clarkson, Emma Perkins et al. · PLoS Genetics · 2012 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Audrey E. Hendricks, Elena G. Bochukova, Gaëlle Marenne et al. · Scientific Reports · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hoxa6 potentiates short-term hemopoietic cell proliferation and extended self-renewal

Glenda J. Dickson, Alexandra Kwasniewska, Ken Mills et al. · Experimental Hematology · 2009 · 27 citations

Life Sciences, Cell Biology, Hematology +12