Meriel McEntagart

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

Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante et al. · Science · 2022 · 272 citations · Full text

Bioinformatics, Whole-genome Sequencing, Functional Genomics +15

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 267 citations · Full text

Ankyrin Domain, Scapuloperoneal Sma, Molecular Biology +4

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11