Related references
Note: Only part of the references are listed.OFD1: One gene, several disorders
Nunziana Pezzella et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2022)
Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania
Magdalena Budisteanu et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE (2022)
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
Balram Gangaram et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2022)
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
Vasiliki Karalis et al.
JOURNAL OF DEVELOPMENTAL BIOLOGY (2022)
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy
Manuela Morleo et al.
EMBO JOURNAL (2021)
The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex
Kerstin Hasenpusch-Theil et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Patterns of cilia gene dysregulations in major psychiatric disorders
Wedad Alhassen et al.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2021)
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle
Manuela Morleo et al.
CELL STRESS (2021)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Genetic landscape of autism spectrum disorder in Vietnamese children
Kien Trung Tran et al.
SCIENTIFIC REPORTS (2020)
A framework for an evidence-based gene list relevant to autism spectrum disorder
Christian P. Schaaf et al.
NATURE REVIEWS GENETICS (2020)
OFD Type 1 syndrome: lessons learned from a rare ciliopathy
Manuela Morleo et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2020)
The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression
Mariaevelina Alfieri et al.
TISSUE & CELL (2020)
Primary Cilia-An Underexplored Topic in Major Mental Illness
Michal Pruski et al.
FRONTIERS IN PSYCHIATRY (2019)
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
Zuzanna Bukowy-Bieryllo et al.
JOURNAL OF MEDICAL GENETICS (2019)
Genetic Causes and Modifiers of Autism Spectrum Disorder
Lauren Rylaarsdam et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
Clinical spectrum of male patients with OFD1 mutations
Nana Sakakibara et al.
JOURNAL OF HUMAN GENETICS (2019)
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
Ashok Patowary et al.
TRANSLATIONAL PSYCHIATRY (2019)
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees
Xue Chen et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2018)
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel et al.
JOURNAL OF MEDICAL GENETICS (2017)
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
Jinchen Li et al.
MOLECULAR PSYCHIATRY (2017)
Comment on Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Christine Fauth et al.
PRENATAL DIAGNOSIS (2017)
Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses
Amirhossein Modabbernia et al.
MOLECULAR AUTISM (2017)
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum
Arjan Bouman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
Christine Fauth et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function
Hirotsugu Oda et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Eugenia Migliavacca et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Excess of rare, inherited truncating mutations in autism
Niklas Krumm et al.
NATURE GENETICS (2015)
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Stephan J. Sanders et al.
NEURON (2015)
Developmental disruptions underlying brain abnormalities in ciliopathies
Jiami Guo et al.
NATURE COMMUNICATIONS (2015)
Primary Cilia in the Developing and Mature Brain
Alicia Guemez-Gamboa et al.
NEURON (2014)
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
Ennio Del Giudice et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Izak J. Bisschoff et al.
HUMAN MUTATION (2013)
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites
Zaiming Tang et al.
NATURE (2013)
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb et al.
HUMAN MOLECULAR GENETICS (2012)
A Simple Cell-Based Assay Reveals That Diverse Neuropsychiatric Risk Genes Converge on Primary Cilia
Aaron Marley et al.
PLOS ONE (2012)
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development
Anna D'Angelo et al.
PLOS ONE (2012)
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Catalina Betancur
BRAIN RESEARCH (2011)
Autism spectrum disorders-A genetics review
Judith H. Miles
GENETICS IN MEDICINE (2011)
Cilia in the CNS: The Quiet Organelle Claims Center Stage
Angeliki Louvi et al.
NEURON (2011)
Genetics of autism spectrum disorders
Daniel H. Geschwind
TRENDS IN COGNITIVE SCIENCES (2011)
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
Veena Singla et al.
DEVELOPMENTAL CELL (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Karlien L. M. Coene et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients
Clelia Prattichizzo et al.
HUMAN MUTATION (2008)
Advances in autism genetics: on the threshold of a new neurobiology
Brett S. Abrahams et al.
NATURE REVIEWS GENETICS (2008)
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders
M. Morleo et al.
JOURNAL OF MEDICAL GENETICS (2008)
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with Subunits of a chromatin remodeling complex
Giovanna Giorgio et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
NATURE GENETICS (2007)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Bartlomiej Budny et al.
HUMAN GENETICS (2006)
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante et al.
NATURE GENETICS (2006)
Central nervous system malformations in oral-facial-digital syndrome, type 1
M Holub et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
X-inactivation profile reveals extensive variability in X-linked gene expression in females
L Carrel et al.
NATURE (2005)
OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis
L Romio et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2004)
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
RD Emes et al.
HUMAN MOLECULAR GENETICS (2001)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)