Novel heterozygous variants in KMT2D associated with holoprosencephaly

Recent advances in understanding inheritance of holoprosencephaly

(2018) Christèle Dubourg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Molecular testing in holoprosencephaly

(2018) Paul Kruszka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

(2018) Artem Kim et al.   BRAIN

Kabuki syndrome: international consensus diagnostic criteria

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

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening

(2017) David R. Murdock et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

(2015) Peter M. Van Laarhoven et al.   HUMAN MOLECULAR GENETICS

H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation

(2013) Ji-Eun Lee et al.   eLife

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epidemiology of holoprosencephaly: Prevalence and risk factors

(2010) Iêda M. Orioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Holoprosencephaly: recommendations for diagnosis and management

(2010) Emily F Kauvar et al.   CURRENT OPINION IN PEDIATRICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS