De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

(2015) Ricarda Flöttmann et al.   JOURNAL OF MEDICAL GENETICS

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

(2015) Katerina Kraft et al.   Cell Reports

Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex

(2014) Justin M. Moore et al.   PLoS One

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

(2010) Bertrand Isidor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

(2010) T.-J. Cho et al.   JOURNAL OF MEDICAL GENETICS

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

(2009) E Steichen-Gersdorf et al.   CLINICAL GENETICS