A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

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ClinVar: improving access to variant interpretations and supporting evidence

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Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

(2014) Ennio Del Giudice et al.   Orphanet Journal of Rare Diseases

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

(2013) Roman H Khonsari et al.   BMC BIOLOGY

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

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Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncatingOFD1mutations in male patients

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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

(2012) Michael Field et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development

(2012) Anna D'Angelo et al.   PLoS One

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Joubert Syndrome and related disorders

(2010) Francesco Brancati et al.   Orphanet Journal of Rare Diseases

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Are the oral-facial-digital syndromes ciliopathies?

(2009) Helga V. Toriello   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular features of Joubert syndrome and related disorders

(2009) Melissa A. Parisi   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genetic Regulation of Pituitary Gland Development in Human and Mouse

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

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