Magdalena Bartnik

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 278 citations · Full text

Down Syndrome, Influences Recurrence Risk, Developmental Biology +8

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 237 citations

Array Cgh, Genetics, Diagnosis +18

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2010 · 96 citations · Full text

Recurrent Distal 7Q11.23, Deletion Including Hip1, Ywhag Identified +5

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Magdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2012 · 56 citations

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Magdalena Bartnik, Katarzyna Derwińska, Monika Goś et al. · Genetics in Medicine · 2011 · 49 citations · Full text

Exonic Deletions, Medicine, Neurology +3