|
| 37808847 | Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features. | medRxiv | 2023 |
| 36413568 | Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. | PLoS One | 2022 |
| 31168063 | Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2019 |
| 30842225 | <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia. | J Med Genet | 2019 |
| 29379197 | BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2018 |
| 29440723 | Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. | Nat Genet | 2018 |
| 28067909 | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. | Nat Genet | 2017 |
| 28327570 | PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. | Eur J Hum Genet | 2017 |
| 28425213 | Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. | Am J Med Genet A | 2017 |
| 28546579 | Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. | Nat Genet | 2017 |
| 27124303 | Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. | PLoS One | 2016 |
| 25655089 | De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. | Hum Mutat | 2015 |
| 26437029 | Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. | Nat Genet | 2015 |
| 24462371 | Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. | Am J Hum Genet | 2014 |
| 25195018 | A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. | Eur J Med Genet | 2014 |
| 25038816 | Variant detection sensitivity and biases in whole genome and exome sequencing. | BMC Bioinformatics | 2014 |
| 25125236 | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. | J Med Genet | 2014 |
| 24934569 | Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. | Hum Mutat | 2014 |
| 24363063 | Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. | Hum Mol Genet | 2014 |
| 24403048 | Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. | Hum Mol Genet | 2014 |
| 23760082 | Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF. | Hum Mol Genet | 2013 |
| 24498598 | Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. | Mol Genet Genomic Med | 2013 |
| 23873044 | Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration. | Hum Mol Genet | 2013 |
| 22692683 | Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. | Hum Mol Genet | 2012 |
| 20098734 | Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. | PLoS One | 2010 |