Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent

A genomic view of mosaicism and human disease

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

(2012) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

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Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

(2011) G D'Amours et al.   CLINICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

(2010) Shin Hayashi et al.   JOURNAL OF HUMAN GENETICS

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

(2009) A. Carre et al.   HUMAN MOLECULAR GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics