Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

(2019) Natalia Krawczynska et al.   BMC Medical Genetics

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

(2019) Hiroyuki Mishima et al.   JOURNAL OF HUMAN GENETICS

The expanding phenotypes of cohesinopathies: one ring to rule them all!

(2019) Jessica Piché et al.   CELL CYCLE

Chromatinopathies: A focus on Cornelia de Lange syndrome

(2019) Laura Avagliano et al.   CLINICAL GENETICS

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

(2019) Patrizia Sarogni et al.   JOURNAL OF MEDICAL GENETICS

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

(2018) Jean T. Pantel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

(2018) Antonie D. Kline et al.   NATURE REVIEWS GENETICS

Roles of cohesin in chromosome architecture and gene expression

(2018) Zhenhua Zhu et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Deep learning for genomics

(2018)   NATURE GENETICS

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Novel mosaic variants in two patients with Cornelia de Lange syndrome

(2017) Jelena Pozojevic et al.   European Journal of Medical Genetics

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

(2017) Ilaria Parenti et al.   HUMAN GENETICS

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

(2017) Beatriz Puisac et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Two-step ATP-driven opening of cohesin head

(2017) Íñigo Marcos-Alcalde et al.   Scientific Reports

Special cases in Cornelia de Lange syndrome: The Spanish experience

(2016) Juan Pié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

(2016) L. Basel-Vanagaite et al.   CLINICAL GENETICS

Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction

(2016) I. Parenti et al.   CLINICAL GENETICS

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease

(2016) Erwan Watrin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

(2016) Kobe C. Yuen et al.   Cell Reports

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome

(2015) Libin Mei et al.   GENE

Somatic mosaicism in a Cornelia de Lange syndrome patient withNIPBLmutation identified by different next generation sequencing approaches

(2014) C. Baquero-Montoya et al.   CLINICAL GENETICS

Clinical utility gene card for: Cornelia de Lange syndrome

(2014) Feliciano J Ramos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

(2014) Carolina Baquero-Montoya et al.   European Journal of Medical Genetics

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

(2014) María Teresa-Rodrigo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Could a patient withSMC1Aduplication be classified as a human cohesinopathy?

(2013) C. Baquero-Montoya et al.   CLINICAL GENETICS

Cohesin: Functions beyond sister chromatid cohesion

(2013) Gunjan D. Mehta et al.   FEBS LETTERS

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

(2013) Linda Mannini et al.   HUMAN MUTATION

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

(2012) Jolanta Wierzba et al.   BMC 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

Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

(2010) Juan Pié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A