Phenotypic expansion of KMT2D- related disorder: Beyond Kabuki syndrome

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

(2020) Sara Cuvertino et al.   GENETICS IN MEDICINE

Dissecting KMT2D missense mutations in Kabuki syndrome patients

(2018) Dario Cocciadiferro et al.   HUMAN MOLECULAR GENETICS

Aminode: Identification of Evolutionary Constraints in the Human Proteome

(2018) Kevin T. Chang et al.   Scientific Reports

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

(2018) Nina Bögershausen et al.   Frontiers in Molecular Neuroscience

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

(2018) Víctor Faundes et al.   JOURNAL OF HUMAN GENETICS

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

InterPro in 2019: improving coverage, classification and access to protein sequence annotations

(2018) Alex L Mitchell et al.   NUCLEIC ACIDS RESEARCH

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

(2017) Nara Sobreira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development

(2017) Mandy Wahlbuhl-Becker et al.   GEBURTSHILFE UND FRAUENHEILKUNDE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

(2017) Sonoko Sakata et al.   Frontiers in Genetics

KMT2Dp.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

(2016) Lauren Badalato et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The SWISS-MODEL Repository—new features and functionality

(2016) Stefan Bienert et al.   NUCLEIC ACIDS RESEARCH

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

(2015) Akemi J. Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1.

(2015) Wenzhong Liu et al.   BIOINFORMATICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

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

Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?

(2014) Nisha Patel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative and Comparative Genomic Analysis of HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas

(2014) Tanguy Y. Seiwert et al.   CLINICAL CANCER RESEARCH

An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome

(2014) Judith M.A. Verhagen et al.   European Journal of Medical Genetics

Homozygous truncating PTPRF mutation causes athelia

(2014) Guntram Borck et al.   HUMAN GENETICS

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

(2013) Alexander G. Marneros et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational landscape and significance across 12 major cancer types

(2013) Cyriac Kandoth et al.   NATURE

The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease Pathogenesis

(2012) Ali Shilatifard   Annual Review of Biochemistry

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

(2012) A. Haghighi et al.   BRITISH JOURNAL OF DERMATOLOGY

PTPRF is disrupted in a patient with syndromic amastia

(2011) Surasawadee Ausavarat et al.   BMC Medical Genetics

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Congenital bilateral amazia associated with bilateral choanal atresia

(2009) Anastasios Papadimitriou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A