Cornelius F Boerkoel

Cornelius F Boerkoel

UNVERIFIED PROFILE

Are you Cornelius F Boerkoel?   Register this Author

Register author
Cornelius F Boerkoel

Cornelius F Boerkoel

Publications by authors named "Cornelius F Boerkoel"

Are you Cornelius F Boerkoel?   Register this Author

96Publications

3693Reads

19Profile Views

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
Publisher Site
http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria.

Sci Rep 2018 03 9;8(1):4304. Epub 2018 Mar 9.

BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-22547-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844879PMC
March 2018

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Am J Med Genet A 2017 Dec 8;173(12):3172-3181. Epub 2017 Sep 8.

Department of Pediatrics, University of South Dakota and Sanford Health, Sioux Falls, South Dakota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38462DOI Listing
December 2017

Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

Turk J Pediatr 2015 Sep-Oct;57(5):509-13

Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

View Article

Download full-text PDF

Source
September 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

PLoS Genet 2017 02 3;13(2):e1006481. Epub 2017 Feb 3.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1006481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291374PMC
February 2017

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Genet Med 2016 12 2;18(12):1303-1307. Epub 2016 Jun 2.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133159PMC
December 2016

Phenotypic evolution of UNC80 loss of function.

Am J Med Genet A 2016 12 11;170(12):3106-3114. Epub 2016 Aug 11.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671762PMC
December 2016

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Am J Med Genet A 2016 09 4;170(9):2440-4. Epub 2016 Jul 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37822DOI Listing
September 2016

Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer.

Proc Natl Acad Sci U S A 2016 09 22;113(36):9967-76. Epub 2016 Aug 22.

Michael Smith Laboratories, University of British Columbia, Vancouver, BC, Canada V6T 1Z4; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1611839113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018746PMC
September 2016

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.

Ophthalmic Genet 2015 ;36(3):276-80

a Department of Ophthalmology , University of British Columbia and British Columbia Children's Hospital , Vancouver , British Columbia , Canada .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1016240DOI Listing
April 2016

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

J Med Genet 2016 Mar 14;53(3):180-9. Epub 2015 Dec 14.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303PMC
March 2016

Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

Pediatr Res 2015 Dec 26;78(6):609-17. Epub 2015 Aug 26.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2015.156DOI Listing
December 2015

4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.

Am J Med Genet A 2015 Jan 29;167A(1):231-7. Epub 2014 Oct 29.

Child and Family Research Institute, Vancouver, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36821
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36821DOI Listing
January 2015

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Am J Med Genet A 2014 Nov 22;164A(11):2892-900. Epub 2014 Sep 22.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36709
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205164PMC
November 2014

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Genet Med 2014 Oct 1;16(10):741-50. Epub 2014 May 1.

National Institutes of Health (NIH) Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and National Human Genome Research Institute, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001PMC
October 2014

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

Am J Med Genet A 2014 Jul 3;164A(7):1808-14. Epub 2014 Apr 3.

NIH Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and NHGRI, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671763PMC
July 2014

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

Am J Med Genet A 2014 Jun 25;164A(6):1587-94. Epub 2014 Mar 25.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36490DOI Listing
June 2014

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Orphanet J Rare Dis 2014 Jun 25;9:94. Epub 2014 Jun 25.

Department of Medical Genetics, University of British Columbia, 4500 Oak St,, Vancouver, British Columbia, V6H 3N1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-9-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076431PMC
June 2014

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

N Engl J Med 2014 Apr 9;370(17):1615-1625. Epub 2014 Apr 9.

Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (M.A.S., N.H., E.N., R.M., M.G., S.D.R.), Laboratory of Immunoregulation (S.M., T.-W.C., P.L., L.J.Y.K., A.L., R.C., J.S.J., D.M.), Laboratory of Infectious Diseases (M.J.M., T.B.), Laboratory of Clinical Infectious Diseases (B.E.M.), Laboratory of Immunogenetics (G.H., D.S., P.S.), and Primary Immunodeficiency Clinic (S.D.R.), National Institute of Allergy and Infectious Diseases, the Undiagnosed Diseases Program, National Human Research Genome Institute (L.W., H.V., Y.H. D.A., C.F.B.), the Department of Laboratory Medicine, Clinical Center (K.R.C., J.S.), and Oral and Pharyngeal Cancer Branch (V.P.) and Adeno-Associated Virus Biology Section (J.A.C., G.D.P.), National Institute of Dental and Craniofacial Research - all at the National Institutes of Health, Bethesda, the Center for Biologics Evaluation and Research (G.K., J.J.) and the Center for Drug Evaluation and Research (D.C.I., C.G., D.V.), Food and Drug Administration Clinical Services Program, Silver Spring, and SAIC-Frederick, Frederick National Laboratory for Cancer Research, Frederick (D.A.L.P., D.B.K.) - all in Maryland; the Department of Human Genetics, Emory University School of Medicine, Atlanta (M. He, M. Hegde); and the IAVI (International AIDS Vaccine Initiative) Center for Neutralizing Antibodies at TSRI and the Department of Immunology and Microbial Science, Scripps Research Institute, La Jolla, CA (Y.L.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1302846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066413PMC
April 2014

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Eur J Hum Genet 2013 Nov 27;21(11):1232-9. Epub 2013 Feb 27.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Genetics and Health Cluster, Child and Family Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798831PMC
November 2013

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Am J Med Genet A 2013 Oct 15;161A(10):2609-13. Epub 2013 Aug 15.

Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788057PMC
October 2013

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.

Front Med 2013 Sep 15;7(3):389-94. Epub 2013 Jul 15.

Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, Xi'an, 710032, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11684-013-0281-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763934PMC
September 2013

Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues.

J Mol Histol 2013 Aug 28;44(4):481-94. Epub 2013 Mar 28.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10735-013-9496-5DOI Listing
August 2013

The role of nuclear bodies in gene expression and disease.

Biology (Basel) 2013 Jul;2(3):976-1033

Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/biology2030976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771687PMC
July 2013

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Clin J Am Soc Nephrol 2013 Apr 4;8(4):649-57. Epub 2013 Jan 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2215/CJN.05360512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613951PMC
April 2013

Kearns-Sayre syndrome presenting as isolated growth failure.

BMJ Case Rep 2013 Feb 18;2013. Epub 2013 Feb 18.

Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2012-007272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604337PMC
February 2013

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Am J Med Genet A 2012 Jul 21;158A(7):1662-9. Epub 2012 May 21.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35377DOI Listing
July 2012

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Hum Mutat 2012 Apr 24;33(4):593-8. Epub 2012 Feb 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22034DOI Listing
April 2012

Detecting false-positive signals in exome sequencing.

Hum Mutat 2012 Apr 5;33(4):609-13. Epub 2012 Mar 5.

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302978PMC
April 2012

Expression profile of NSDHL in human peripheral tissues.

J Mol Histol 2012 Feb 24;43(1):95-106. Epub 2011 Nov 24.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10735-011-9375-x
Publisher Site
http://dx.doi.org/10.1007/s10735-011-9375-xDOI Listing
February 2012

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance.

Eur J Med Genet 2012 Feb 30;55(2):96-8. Epub 2011 Dec 30.

Department of Pediatrics, Division of Nephrology, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.12.006DOI Listing
February 2012

SMARCAL1 and replication stress: an explanation for SIOD?

Nucleus 2010 May-Jun;1(3):245-8. Epub 2010 Feb 16.

Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, TN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/nucl.1.3.11739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027029PMC
January 2012

Minimal genotype--phenotype correlation for small deletions within distal 1p36.

Am J Med Genet A 2011 Dec 7;155A(12):3164-9. Epub 2011 Nov 7.

Department of Pediatrics, Hannover Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34333DOI Listing
December 2011

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

Pediatr Rheumatol Online J 2011 Sep 13;9(1):27. Epub 2011 Sep 13.

Department of Pediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1546-0096-9-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184066PMC
September 2011

Spinocerebellar ataxia with axonal neuropathy.

Adv Exp Med Biol 2010 ;685:75-83

Department of Medical Genetics, Provincial Medical Genetics Program, Child and Family Research Institute, Children's and Women's Health Centre of British Columbia, University of British Columbia Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4419-6448-9_7DOI Listing
August 2010

Gene clusters, molecular evolution and disease: a speculation.

Curr Genomics 2009 Mar;10(1):64-75

Interdepartmental Program in Cellular and Molecular Biology.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/138920209787581271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699835PMC
March 2009

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders.

Am J Med Genet A 2009 Feb;149A(4):713-21

Provincial Medical Genetics Programme, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.32709
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32709DOI Listing
February 2009

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Am J Med Genet A 2008 Aug;146A(15):2013-7

Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576743PMC
August 2008

Cerebellar atrophy in Schimke-immuno-osseous dysplasia.

Am J Med Genet A 2007 Sep;143A(17):2040-5

Department of Pediatrics, Hannover Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31878DOI Listing
September 2007

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?

Am J Med Genet A 2007 Jan;143A(2):200-4

Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31573DOI Listing
January 2007

Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

Pediatrics 2006 Aug 30;118(2):e400-7. Epub 2006 Jun 30.

Department of Pediatrics, Hannover Medical School, Carl-Neuberg Strasse 1, D-30623 Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2005-2614DOI Listing
August 2006

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

Am J Med Genet A 2006 Feb;140(4):340-8

Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31089DOI Listing
February 2006