Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

(2019) Hiromi Aoi et al.   JOURNAL OF HUMAN GENETICS

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

(2019) Paul Kruszka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cohesin complex-associated holoprosencephaly

(2019) Paul Kruszka et al.   BRAIN

Novel heterozygous variants in KMT2D associated with holoprosencephaly

(2019) Cedrik Tekendo‐Ngongang et al.   CLINICAL GENETICS

Recent advances in understanding inheritance of holoprosencephaly

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

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

(2018) Ariel F. Martinez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

(2018) Yu Abe et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

(2015) Simon Poelmans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Zic2 gene directs the formation and function of node cilia to control cardiac situs

(2014) Kristen S. Barratt et al.   GENESIS

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

(2012) Benjamin D Solomon et al.   JOURNAL OF MEDICAL GENETICS

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

(2011) S. Mercier et al.   JOURNAL OF MEDICAL GENETICS

Holoprosencephaly: recommendations for diagnosis and management

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

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

(2009) B. D. Solomon et al.   JOURNAL OF MEDICAL GENETICS

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

(2009) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

(2008) Erich Roessler et al.   AMERICAN JOURNAL OF HUMAN GENETICS