Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Biallelic missense variants in ZBTB11 can cause intellectual disability in human

(2018) Zohreh Fattahi et al.   HUMAN MOLECULAR GENETICS

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

(2018) Zuchra Zakirova et al.   PLoS Genetics

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

(2016) Francesca Mattioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome

(2016) B. Hervé et al.   European Journal of Medical Genetics

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

(2016) Aloysius Domingo et al.   MOVEMENT DISORDERS

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

(2015) Maja Hempel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Association between variants of zinc finger genes and psychiatric disorders: Systematic review and meta-analysis

(2015) Yan Sun et al.   SCHIZOPHRENIA RESEARCH

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

(2015) Haiming Yuan et al.   Molecular Cytogenetics

ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome

(2014) Ersida Buraniqi et al.   JOURNAL OF CHILD NEUROLOGY

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

(2014) Malene B Rasmussen et al.   JOURNAL OF MEDICAL GENETICS

Mutations in ZBTB20 cause Primrose syndrome

(2014) Viviana Cordeddu et al.   NATURE GENETICS

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

(2014) Marios Kambouris et al.   Orphanet Journal of Rare Diseases

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome

(2013) Jamal Ghoumid et al.   HUMAN MOLECULAR GENETICS

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

DISC1-binding proteins in neural development, signalling and schizophrenia

(2011) Nicholas J. Bradshaw et al.   NEUROPHARMACOLOGY

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH