J. V. Reeuwijk

发表

PNAS201903125 1..10

S. Letteboer, R. Roepman, U. Wolfrum, 2020 .

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

H. Brunner, E. Lemyre, R. Wevers, 2008, European Journal of Human Genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Hans van Bokhoven, Han G Brunner, Jeroen van Reeuwijk, 2005, Nature Genetics.

Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina

G. Mardon, S. Wu, S. Letteboer, 2015 .

Conserved co-expression for candidate disease gene prioritization

Martijn A. Huynen, Han G. Brunner, Martin Oti, 2008, BMC Bioinformatics.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Gert Matthijs, Dirk Lefeber, Peter Nürnberg, 2008, Nature Genetics.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

POMT2 mutation in a patient with ‘MEB-like’ phenotype

M. Pane, E. Mercuri, F. Muntoni, 2006, Neuromuscular Disorders.

Glyc‐O‐genetics of Walker–Warburg syndrome

H. Brunner, J. van Reeuwijk, H. van Bokhoven, 2004, Clinical genetics.

Whirlin associates with the Ca v 1.3 ( 1D ) channels in photoreceptors, defining a novel member of the Usher protein network

R. Roepman, U. Wolfrum, Tina Märker, 2009 .

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Colin A. Johnson, S. Levy, Shaohui Wang, 2012, Cell.

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

J. Schuurs-Hoeijmakers, R. Pfundt, T. Kleefstra, 2023, medRxiv.