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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

American journal of human genetics, 2012-05, Vol.90 (5), p.864-870

2012

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

PLoS genetics, 2015-10, Vol.11 (10), p.e1005575-e1005575

2015

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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

American journal of human genetics, 2014-08, Vol.95 (2), p.131-142

2014

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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Journal of medical genetics, 2017-07, Vol.54 (7), p.490

2017

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Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.36-36, Article 36

2020

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Nature genetics, 2007-07, Vol.39 (7), p.882-888

2007

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A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Journal of medical genetics, 2023-02, Vol.60 (2), p.134

2023

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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (51), p.18520-18525

2005

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Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island

Clinical genetics, 2023-12, Vol.104 (6), p.713-715

2023

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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Cilia (London), 2016-04, Vol.5 (8), p.8-8, Article 8

2016

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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

American journal of human genetics, 2010-09, Vol.87 (3), p.418-423

2010

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

Human molecular genetics, 2011-10, Vol.20 (2), p.R149-R157

2011

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The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Frontiers in pediatrics, 2018-05, Vol.6, p.131-131

2018

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Current insights into renal ciliopathies: what can genetics teach us?

Pediatric nephrology (Berlin, West), 2013-06, Vol.28 (6), p.863-874

2013

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323

2013

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Ciliopathies: Genetics in Pediatric Medicine

Journal of pediatric genetics (Birmingham, Ala.), 2017-03, Vol.6 (1), p.018-029

2017

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Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.554-558

2023

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Human molecular genetics, 2017-11, Vol.26 (21), p.4278-4289

2017

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WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3071-3077

2022

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Journal of medical genetics, 2011-06, Vol.48 (6), p.390-395

2011

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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1195-1203

2021

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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Scientific reports, 2016-10, Vol.6 (1), p.34764-34764, Article 34764

2016

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations

Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Scrutinizing ciliopathies by unraveling ciliary interaction networks

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Current insights into renal ciliopathies: what can genetics teach us?

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Ciliopathies: Genetics in Pediatric Medicine

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

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