Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome

(2018) Minh-Tuan Huynh et al.   European Journal of Medical Genetics

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

(2018) Gabrielle Olley et al.   NATURE GENETICS

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study

(2016) Ye Cao et al.   GENETICS IN MEDICINE

Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L

(2015) Rebecca A. Nebel et al.   PLoS One

Cornelia de Lange syndrome

(2014) M.I. Boyle et al.   CLINICAL GENETICS

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth

(2012) Anne Marie Jelsig et al.   European Journal of Medical Genetics

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval

(2011) Kenjiro Kosaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

(2011) Natalie M. Gallant et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

(2011) Susanne Bens et al.   European Journal of Medical Genetics

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

(2010) Sarika Rohatgi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

(2010) Maria C Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12

(2010) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

(2009) Emmelien Aten et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

(2009) Daniel R. Jensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A