Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

(2017) Ian G Phelps et al.   GENETICS IN MEDICINE

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

(2017) Xiaoyu Shi et al.   NATURE CELL BIOLOGY

HypomorphicMKS1mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum ofMKS1-related ciliopathies

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

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

(2016) Christopher M. Watson et al.   BMC Medical Genetics

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum

(2016) Ingrid Bader et al.   European Journal of Medical Genetics

Identification of a novel MKS locus defined byTMEM107mutation

(2015) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

(2015) Nils J. Lambacher et al.   NATURE CELL BIOLOGY

Controversies and considerations regarding the termination of pregnancy for Foetal Anomalies in Islam

(2014) Abdulrahman Al-Matary et al.   BMC Medical Ethics

Compartments within a compartment

(2014) Oliver E Blacque et al.   Organogenesis

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

(2013) Zakia A. Abdelhamed et al.   HUMAN MOLECULAR GENETICS

Mutations inTMEM231cause Meckel–Gruber syndrome

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

(2012) Francesc R. Garcia-Gonzalo et al.   JOURNAL OF CELL BIOLOGY

Midwives' perceptions of their role as facilitators of informed choice in antenatal screening

(2012) Shenaz Ahmed et al.   MIDWIFERY

Islam and termination of pregnancy for genetic conditions in Pakistan: implications for Pakistani health care providers

(2012) H. Jafri et al.   PRENATAL DIAGNOSIS

Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK

(2012) S. Ahmed et al.   PRENATAL DIAGNOSIS

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

(2011) Katharina Hopp et al.   HUMAN MOLECULAR GENETICS

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

(2011) Madeline A. Lancaster et al.   NATURE CELL BIOLOGY

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Gender roles and their influence on life prospects for women in urban Karachi, Pak0istan: a qualitative study

(2011) Tazeen S. Ali et al.   Global Health Action

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

(2010) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies

(2010) Miriam Iannicelli et al.   HUMAN MUTATION

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

(2009) Yi-Chun Hsiao et al.   HUMAN MOLECULAR GENETICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

(2009) Madeline A Lancaster et al.   NATURE MEDICINE

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS