Stefan White

Stefan White

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Stefan White

Publications by authors named "Stefan White"

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Reduced PRC2 function alters male germline epigenetic programming and paternal inheritance.

BMC Biol 2018 09 20;16(1):104. Epub 2018 Sep 20.

Centre for Reproductive Health, Hudson Institute of Medical Research, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1186/s12915-018-0569-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149058PMC
September 2018

Loss of maternal EED results in postnatal overgrowth.

Clin Epigenetics 2018 07 13;10(1):95. Epub 2018 Jul 13.

Centre for Reproductive Health, Hudson Institute of Medical Research and Department of Molecular and Translational Science, Monash University, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1186/s13148-018-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045828PMC
July 2018

Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).

Methods Mol Biol 2017 ;1492:147-153

Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6442-0_9DOI Listing
January 2018

Quantitative DNA Analysis Using Droplet Digital PCR.

Methods Mol Biol 2017 ;1492:167-177

Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6442-0_11DOI Listing
January 2018

Targeted Locus Amplification and Next-Generation Sequencing.

Methods Mol Biol 2017 ;1492:185-196

Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6442-0_13DOI Listing
January 2018

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Hum Mutat 2017 03 18;38(3):310-316. Epub 2017 Jan 18.

Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, 2333ZA, The Netherlands.

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http://dx.doi.org/10.1002/humu.23166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324676PMC
March 2017

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

Clin Endocrinol (Oxf) 2016 08 4;85(2):247-57. Epub 2016 Apr 4.

Department of Paediatrics, Division of Endocrinology, Sophia Children's Hospital, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/cen.13051DOI Listing
August 2016

Glucocorticoid-induced leucine zipper (GILZ) inhibits B cell activation in systemic lupus erythematosus.

Ann Rheum Dis 2016 Apr 26;75(4):739-47. Epub 2015 Nov 26.

Centre for Inflammatory Diseases, School of Clinical Sciences at Monash Health, Monash University, Clayton, Melbourne, Australia.

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http://dx.doi.org/10.1136/annrheumdis-2015-207744DOI Listing
April 2016

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

Stem Cells Dev 2016 Feb 7;25(3):239-50. Epub 2016 Jan 7.

1 Centre for Genetic Diseases, Hudson Institute of Medical Research , Clayton, Australia .

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http://dx.doi.org/10.1089/scd.2015.0211DOI Listing
February 2016

Counting copy number and calories.

Authors:
Stefan White

Nat Genet 2015 Aug;47(8):852-3

Leiden Genome Technology Center, Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1038/ng.3365DOI Listing
August 2015

BTB-ZF transcriptional regulator PLZF modifies chromatin to restrain inflammatory signaling programs.

Proc Natl Acad Sci U S A 2015 Feb 20;112(5):1535-40. Epub 2015 Jan 20.

MIMR-PHI Institute of Medical Research, Clayton, Victoria 3168, Australia; Department of Molecular and Translational Science, Monash University, Clayton, Victoria 3168, Australia; Institute of Ageing Research, Hangzhou Normal University School of Medicine, Hangzhou, Zhejiang 311121, China;

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http://dx.doi.org/10.1073/pnas.1409728112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321291PMC
February 2015

Copy number variation associated with meiotic arrest in idiopathic male infertility.

Fertil Steril 2015 Jan 25;103(1):214-9. Epub 2014 Oct 25.

Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.09.030DOI Listing
January 2015

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.

BMC Genomics 2014 May 1;15:329. Epub 2014 May 1.

Centre for Genetic Diseases, MIMR-PHI Institute of Medical Research, Monash University, 27-31 Wright Street, Clayton 3168, Victoria, Australia.

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http://dx.doi.org/10.1186/1471-2164-15-329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035060PMC
May 2014

Role of epigenetics in the etiology of germ cell cancer.

Int J Dev Biol 2013 ;57(2-4):299-308

Department of Pathology, Erasmus MC- University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1387/ijdb.130017llDOI Listing
January 2014

The identification of mitochondrial DNA variants in glioblastoma multiforme.

Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.

Mitochondrial Genetics Group, Centre for Genetic Diseases, Monash Institute of Medical Research, Monash University, 27-31 Wright Street, Clayton, Victoria 3168, Australia.

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http://dx.doi.org/10.1186/2051-5960-2-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912901PMC
January 2014

New insights into the pathogenesis of bladder exstrophy-epispadias complex.

J Pediatr Urol 2013 Dec 3;9(6 Pt B):996-1005. Epub 2013 Jun 3.

Monash Institute of Medical Research, Faculty of Medicine, Nursing and Health Sciences, Monash University, Australia.

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http://dx.doi.org/10.1016/j.jpurol.2013.05.001DOI Listing
December 2013

No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients.

J Pediatr Surg 2013 Dec;48(12):2393-400

Monash Institute of Medical Research, Monash University, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jpedsurg.2013.08.012DOI Listing
December 2013

Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples.

BMC Res Notes 2013 Nov 22;6:481. Epub 2013 Nov 22.

Centre for Genetic Diseases, Monash Institute of Medical Research, Monash University, 27-31 Wright Street, Clayton 3168, VIC, Australia.

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http://dx.doi.org/10.1186/1756-0500-6-481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222080PMC
November 2013

GILZ overexpression inhibits endothelial cell adhesive function through regulation of NF-κB and MAPK activity.

J Immunol 2013 Jul 31;191(1):424-33. Epub 2013 May 31.

Centre for Inflammatory Diseases, Monash University Department of Medicine, Monash Medical Centre, Clayton, Victoria 3168, Australia.

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http://dx.doi.org/10.4049/jimmunol.1202662DOI Listing
July 2013

Molecular methods for genotyping complex copy number polymorphisms.

Genomics 2013 Feb 30;101(2):86-93. Epub 2012 Oct 30.

Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2012.10.004DOI Listing
February 2013

Correlating multiallelic copy number polymorphisms with disease susceptibility.

Hum Mutat 2013 Jan 23;34(1):1-13. Epub 2012 Aug 23.

Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.22172DOI Listing
January 2013

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

BMC Med Genet 2012 Nov 16;13:108. Epub 2012 Nov 16.

Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/1471-2350-13-108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538515PMC
November 2012

DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours.

BMC Res Notes 2012 Oct 15;5:569. Epub 2012 Oct 15.

Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia.

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http://repub.eur.nl/pub/38529/1183.pdf
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http://www.biomedcentral.com/1756-0500/5/569
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http://dx.doi.org/10.1186/1756-0500-5-569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503615PMC
October 2012

Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

PLoS One 2012 25;7(4):e35255. Epub 2012 Apr 25.

Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035255PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338825PMC
September 2012

Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors.

Int J Endocrinol 2012 19;2012:671209. Epub 2012 Jan 19.

Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1155/2012/671209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272341PMC
August 2012

Detecting DNaseI-hypersensitivity sites with MLPA.

Methods Mol Biol 2012 ;786:201-10

Molecular Development Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/978-1-61779-292-2_12DOI Listing
February 2012

The many faces of MLPA.

Methods Mol Biol 2011 ;687:193-205

Molecular Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1007/978-1-60761-944-4_13DOI Listing
February 2011

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

J Clin Invest 2011 Jan 22;121(1):328-41. Epub 2010 Dec 22.

School of Molecular and Biomedical Science and Australian Research Council Special Research Centre for the Molecular Genetics of Development, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1172/JCI42580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007141PMC
January 2011

The use of modelling to predict levels of estrogens in a river catchment: how does modelled data compare with chemical analysis and in vitro yeast assay results?

Sci Total Environ 2010 Sep 1;408(20):4826-32. Epub 2010 Aug 1.

Centre for Environment, Fisheries and Aquaculture Science, Pakefield Road, Lowestoft, NR33 0HT, UK.

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http://dx.doi.org/10.1016/j.scitotenv.2010.07.019DOI Listing
September 2010

Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification.

Transgenic Res 2009 Dec 7;18(6):987-91. Epub 2009 Jun 7.

Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s11248-009-9284-xDOI Listing
December 2009

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach.

BMC Genomics 2009 Sep 4;10:412. Epub 2009 Sep 4.

Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.

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http://dx.doi.org/10.1186/1471-2164-10-412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748097PMC
September 2009

Androgen receptor copy number variation and androgenetic alopecia: a case-control study.

PLoS One 2009 2;4(4):e5081. Epub 2009 Apr 2.

Department of Physiology, University of Melbourne, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0005081PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2659771PMC
July 2009

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

Hum Mutat 2008 Jan;29(1):190-7

Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, PR China.

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http://dx.doi.org/10.1002/humu.20613DOI Listing
January 2008

Refinement of the genetic cause of ATR-16.

Hum Genet 2007 Nov 28;122(3-4):283-92. Epub 2007 Jun 28.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center (LUMC), 2333RC Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-007-0399-yDOI Listing
November 2007

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Am J Med Genet A 2007 Mar;143A(6):610-4

Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31593DOI Listing
March 2007

MLPA and MAPH: sensitive detection of deletions and duplications.

Curr Protoc Hum Genet 2006 Nov;Chapter 7:Unit 7.14

Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/0471142905.hg0714s51DOI Listing
November 2006

Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.

J Clin Endocrinol Metab 2006 Sep 20;91(9):3482-5. Epub 2006 Jun 20.

Department of Pediatrics J6-S, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2006-0368DOI Listing
September 2006

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Am J Hum Genet 2006 Sep 19;79(3):562-6. Epub 2006 Jul 19.

Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970762756
Publisher Site
http://dx.doi.org/10.1086/507567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559553PMC
September 2006

Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.

Neurobiol Dis 2006 Jul 6;23(1):228-36. Epub 2006 May 6.

Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.nbd.2006.03.004DOI Listing
July 2006

Deletion and duplication screening in the DMD gene using MLPA.

Eur J Hum Genet 2005 Nov;13(11):1231-4

Department of Medical Genetics, Mother and Child Health Institute of Serbia, Radoja Dakic, Belgrade, Serbia and Montenegro.

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http://dx.doi.org/10.1038/sj.ejhg.5201465DOI Listing
November 2005

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Hum Genet 2005 Nov 15;118(2):185-206. Epub 2005 Nov 15.

Center for Human and Clinical Genetics, Sylvius Laboratory, Leiden University Medical Center, Wassenaarseweg 72, 2333, AL, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0027-7DOI Listing
November 2005

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

Hum Mutat 2005 Jul;26(1):59

Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/humu.9347
Publisher Site
http://dx.doi.org/10.1002/humu.9347DOI Listing
July 2005

Detecting copy number changes in genomic DNA: MAPH and MLPA.

Methods Cell Biol 2004 ;75:751-68

Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, Nederland.

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http://dx.doi.org/10.1016/s0091-679x(04)75032-3DOI Listing
March 2005

Complex SNP-related sequence variation in segmental genome duplications.

Nat Genet 2004 Aug 11;36(8):861-6. Epub 2004 Jul 11.

Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius väg 35, S-171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1038/ng1401DOI Listing
August 2004