A. Brouwer

发表

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Strategies for present and future mental retardation diagnosis

H. Bokhoven, B. Hamel, A. Brouwer, 2006 .

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

J. Schuurs-Hoeijmakers, J. Veltman, W. Kloosterman, 2012, Nature Genetics.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Wei Chen, S. Nabuurs, J. T. Dunnen, 2013, European Journal of Human Genetics.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

J. Gécz, Wei Chen, R. Reinhardt, 2011, European Journal of Human Genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

J. Schuurs-Hoeijmakers, J. Conroy, S. Ennis, 2014, Nature Genetics.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

L. Vissers, A. Hoischen, G. Carvill, 2015 .

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

D. Bosboom, R. Wevers, S. Wortmann, 2015, Journal of Inherited Metabolic Disease.

Thiophene interconversion in elicitor-treated roots ofTagetes patula L.

A. Brouwer, R. Arroo, G. Wullems, 2005, Plant Cell Reports.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Birgit Sikkema-Raddatz, Christian R Marshall, Stephen W Scherer, 2010, European Journal of Human Genetics.

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

J. Gécz, Wei Chen, H. Ropers, 2007, European Journal of Human Genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

H. Ropers, J. Fryns, J. Chelly, 2010, neurogenetics.

OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin

J. Veltman, S. Letteboer, R. Roepman, 2009 .

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

L. Vissers, J. Veltman, C. Gilissen, 2012, European Journal of Human Genetics.

Will the changes proposed to the conceptual framework's definitions and recognition criteria provide a better basis for IASB standard setting?

A. Brouwer, Martin Hoogendoorn, Ewout Naarding, 2015 .

Making Deferred Taxes Relevant

A. Brouwer, E. Naarding, 2018 .

Does the New Conceptual Framework Provide Adequate Concepts for Reporting Relevant Information about Performance?

A. Brouwer, A. Brouwer, A. Faramarzi, 2014 .

The Role and Current Status of IFRS in the Completion of National Accounting Rules – Evidence from the Netherlands

A. Brouwer, M. Hoogendoorn, 2017 .

sialic acid transport − Intellectual disability and bleeding diathesis due to deficient CMP

R. Wevers, P. Deen, A. Brouwer, 2013 .

Phosphoribosylpyrophosphate synthetase superactivity

J. Christodoulou, A. Brouwer, J. Duley, 2015 .

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

L. Vissers, H. Peeters, J. Veltman, 2013, Human molecular genetics.