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Publications by Han G. Brunner

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

Genetics

2019

English

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics

Genetics

2018

English

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics

Genetics

2019

English

Duplicated Enhancer Region Increases Expression of CTSB and Segregates With Keratolytic Winter Erythema in South African and Norwegian Families

American Journal of Human Genetics

Genetics

2017

English

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

Genetics

2019

English

Truncating De Novo Mutations in the Krüppel-Type Zinc-Finger Gene ZNF148 in Patients With Corpus Callosum Defects, Developmental Delay, Short Stature, and Dysmorphisms

English

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

English

Genome-Wide Profiling of P63 DNA–Binding Sites Identifies an Element That Regulates Gene Expression During Limb Development in the 7q21 SHFM1 Locus

English

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

English

Accurate Distinction of Pathogenic From Benign CNVs in Mental Retardation

PLoS Computational Biology

Molecular Neuroscience

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Han G. Brunner

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Duplicated Enhancer Region Increases Expression of CTSB and Segregates With Keratolytic Winter Erythema in South African and Norwegian Families

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Truncating De Novo Mutations in the Krüppel-Type Zinc-Finger Gene ZNF148 in Patients With Corpus Callosum Defects, Developmental Delay, Short Stature, and Dysmorphisms

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

Genome-Wide Profiling of P63 DNA–Binding Sites Identifies an Element That Regulates Gene Expression During Limb Development in the 7q21 SHFM1 Locus

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Accurate Distinction of Pathogenic From Benign CNVs in Mental Retardation