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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Molecular psychiatry, 2018-05, Vol.23 (5), p.1356-1367

2018

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ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

Cell reports (Cambridge), 2016-02, Vol.14 (6), p.1355-1368

2016

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Identification of C12orf4 as a gene for autosomal recessive intellectual disability

Clinical genetics, 2017-01, Vol.91 (1), p.100-105

2017

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A reference to assess cilium phenotype in ciliopathy patients

Cilia (London), 2015-07, Vol.4 (S1), p.P60-P60, Article P60

2015

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Human molecular genetics, 2000-09, Vol.9 (14), p.2095-2105

2000

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A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

Cilia (London), 2015-07, Vol.4 (S1), p.O12-O12, Article O12

2015

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From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape

Cilia (London), 2015-07, Vol.4 (S1), p.P90-P90, Article P90

2015

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Pericentrin interacts with KASH domain-containing protein Syne-2

Cilia (London), 2015-07, Vol.4 (S1), p.P19-P19, Article P19

2015

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

Human molecular genetics, 1999-08, Vol.8 (8), p.1571-1578

1999

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Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Human molecular genetics, 2012-10, Vol.21 (1), p.R111-R124

2012

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A systemic view on retinal ciliopathies: inherited retinal degeneration revisited

Acta ophthalmologica (Oxford, England), 2010-09, Vol.88 (s246), p.0-0

ROEPMAN, R

2010

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Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

Cilia (London), 2015-07, Vol.4 (S1), p.P59-P59, Article P59

2015

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A systems biology approach towards the prediction of ciliopathy mechanisms

Cilia (London), 2015-07, Vol.4 (S1), p.P88-P88, Article P88

2015

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PDZD7 connects the Usher protein complex to the intraflagellar transport machinery

Cilia (London), 2015-07, Vol.4 (S1), p.P12-P12, Article P12

2015

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Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment

Cilia (London), 2015-07, Vol.4 (S1), p.P53-P53, Article P53

2015

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Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

Cilia (London), 2015-07, Vol.4 (S1), p.P89-P89, Article P89

2015

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KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Cilia (London), 2015-07, Vol.4 (S1), p.P50-P50, Article P50

2015

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Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

Cilia (London), 2015-07, Vol.4 (S1), p.P30-P30, Article P30

2015

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

Human molecular genetics, 2005-12, Vol.14 (24), p.3933-3943

2005

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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network

Human molecular genetics, 2015-06, Vol.24 (12), p.3359-3371

2015

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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Human molecular genetics, 2006-03, Vol.15 (5), p.751-765

2006

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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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CRB1 mutation spectrum in inherited retinal dystrophies

Human mutation, 2004-11, Vol.24 (5), p.355-369

2004

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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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Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene

Mammalian genome, 2001-06, Vol.12 (6), p.406-415

2001

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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

Identification of C12orf4 as a gene for autosomal recessive intellectual disability

A reference to assess cilium phenotype in ciliopathy patients

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape

Pericentrin interacts with KASH domain-containing protein Syne-2

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

A systemic view on retinal ciliopathies: inherited retinal degeneration revisited

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

A systems biology approach towards the prediction of ciliopathy mechanisms

PDZD7 connects the Usher protein complex to the intraflagellar transport machinery

Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

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

CRB1 mutation spectrum in inherited retinal dystrophies

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene

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