Barbara Wiśniowiecka‐Kowalnik

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

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

Lisenka E.L.M. Vissers, Samarth Bhatt, Irene M. Janssen et al. · Human Molecular Genetics · 2009 · 193 citations · Full text

Dna Breakage, Genetics, Tandem Duplications +22

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos et al. · European Journal of Human Genetics · 2015 · 150 citations · Full text

Intellectual Impairment, Speech Impairment, New Recognizable Syndrome +8

Intragenic rearrangements in <i>NRXN1</i> in three families with autism spectrum disorder, developmental delay, and speech delay

Barbara Wiśniowiecka‐Kowalnik, Monika Nesteruk, Sarika U. Peters et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · 83 citations