Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

(2021) Ataf H. Sabir et al.   BMC Medical Genomics

KIAA0753-related skeletal ciliopathy

(2021) Ataf H Sabir et al.   CLINICAL DYSMORPHOLOGY

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

(2020) Cristina T. N. Medina et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

(2020) Adrian Palencia-Campos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Skeletal dysplasias in Latin America

(2020) Denise P. Cavalcanti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Nosology and classification of genetic skeletal disorders: 2019 revision

(2019) Geert R. Mortier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

(2019) Emilien Faudi et al.   European Journal of Medical Genetics

Hepatitis C virus and risk of extrahepatic malignancies: a case-control study

(2019) Bo Liu et al.   Scientific Reports

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

(2018) M. Niceta et al.   CLINICAL GENETICS

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

(2017) Joshi Stephen et al.   HUMAN GENETICS

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

(2017) A. Hammarsjö et al.   Scientific Reports

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

(2016) Gareth Baynam et al.   Orphanet Journal of Rare Diseases

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

(2015) Jun-Seok Bae et al.   GENETICS IN MEDICINE

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

(2015) Véronique Chevrier et al.   HUMAN MOLECULAR GENETICS

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing

(2015) Huiwen Zhang et al.   JOURNAL OF HUMAN GENETICS

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

(2015) Daniel L. Polla et al.   PLoS One

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

(2012) Caroline Michot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical epidemiology of skeletal dysplasias in South America

(2012) Cecília O. Barbosa-Buck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of skeletal dysplasias in the Utah population

(2012) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

(2012) Jose A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

RecurrentPRKAR1AMutation in Acrodysostosis with Hormone Resistance

(2011) Agnès Linglart et al.   NEW ENGLAND JOURNAL OF MEDICINE

New Intrauterine Growth Curves Based on United States Data

(2010) I. E. Olsen et al.   PEDIATRICS