Thomas Markello

Thomas Markello

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Thomas Markello

Thomas Markello

Publications by authors named "Thomas Markello"

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Genet Med 2019 08 31;21(8):1772-1780. Epub 2019 Jan 31.

Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-019-0434-0
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http://dx.doi.org/10.1038/s41436-019-0434-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106PMC
August 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

PLoS Genet 2019 May 24;15(5):e1008143. Epub 2019 May 24.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1008143
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http://dx.doi.org/10.1371/journal.pgen.1008143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290PMC
May 2019

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 12 11;176(12):2768-2776. Epub 2018 Dec 11.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40628
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http://dx.doi.org/10.1002/ajmg.a.40628DOI Listing
December 2018

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

J Med Genet 2018 Nov 1. Epub 2018 Nov 1.

Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105560
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http://dx.doi.org/10.1136/jmedgenet-2018-105560DOI Listing
November 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.

J Endocr Soc 2017 Aug 28;1(8):1006-1011. Epub 2017 Jun 28.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/js.2017-00229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686699PMC
August 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Mol Genet Metab 2017 03 18;120(3):288-294. Epub 2016 Dec 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346474PMC
March 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

Ophthalmic Genet 2016 20;37(1):76-80. Epub 2014 Feb 20.

a The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.

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http://dx.doi.org/10.3109/13816810.2014.889169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139474PMC
September 2016

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

PLoS One 2016 18;11(3):e0151429. Epub 2016 Mar 18.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151429PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798776PMC
August 2016

Explorations to improve the completeness of exome sequencing.

BMC Med Genomics 2016 08 27;9(1):56. Epub 2016 Aug 27.

NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12920-016-0216-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002202PMC
August 2016

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Mol Genet Metab 2016 Apr 22;117(4):393-400. Epub 2016 Jan 22.

NIH Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560125PMC
April 2016

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Hum Mol Genet 2015 Jun 12;24(11):3050-7. Epub 2015 Feb 12.

Human Genetics Program, Sanford - Burnham Medical Research Institute, 10901 N. Torrey Pines Rd, La Jolla, CA 92037, USA

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http://dx.doi.org/10.1093/hmg/ddv057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424951PMC
June 2015

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.

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

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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.

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

Genome-scale sequencing to identify genes involved in Mendelian disorders.

Curr Protoc Hum Genet 2013 Oct 18;79:Unit 6.13.. Epub 2013 Oct 18.

Undiagnosed Diseases Program, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/0471142905.hg0613s79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959778PMC
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.

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

An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.

Mol Genet Metab 2012 Dec 23;107(4):674-8. Epub 2012 Oct 23.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-1800, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520432PMC
December 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.

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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.

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

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

Blood 2011 Dec 1;118(26):6943-51. Epub 2011 Nov 1.

Division of Pediatric Oncology, Department of Oncology, Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2011-08-37
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http://dx.doi.org/10.1182/blood-2011-08-375170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245214PMC
December 2011

Reply to Professor Lefthériotis et al.

Mol Genet Metab 2011 Jul 22;103(3):305. Epub 2011 Apr 22.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.008DOI Listing
July 2011

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

Mol Genet Metab 2011 Jun 21;103(2):128-34. Epub 2011 Mar 21.

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656407PMC
June 2011

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Mol Genet Metab 2011 May 3;103(1):44-50. Epub 2011 Feb 3.

NIH Undiagnosed Diseases Program, Office of Rare Disease Research and National Human Genome Research Institute and NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081917PMC
May 2011

PTPRF is disrupted in a patient with syndromic amastia.

BMC Med Genet 2011 Mar 31;12:46. Epub 2011 Mar 31.

Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand.

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http://dx.doi.org/10.1186/1471-2350-12-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083333PMC
March 2011

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Mol Genet Metab 2010 Sep 10;101(1):62-5. Epub 2010 Jun 10.

Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922439PMC
September 2010

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Am J Respir Crit Care Med 2009 Dec 3;180(11):1114-21. Epub 2009 Sep 3.

Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1164/rccm.200901-0023OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784416PMC
December 2009

Trisomy 21 in one of extremely low birth weight twins.

J Neonatal Perinatal Med 2008 Jan;1(3):193-196

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790809PMC
January 2008