Publications by authors named "Yuval Itan"

66Publications

Identifying disease-causing mutations in genomes of single patients by computational approaches.

Hum Genet 2020 Jun 13;139(6-7):769-776. Epub 2020 May 13.

Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, US.

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http://dx.doi.org/10.1007/s00439-020-02179-7DOI Listing
June 2020

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Med 2020 01 15;12(1). Epub 2020 Jan 15.

Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1186/s13073-019-0709-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961332PMC
January 2020

Biological Network Approaches and Applications in Rare Disease Studies.

Genes (Basel) 2019 10 12;10(10). Epub 2019 Oct 12.

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.3390/genes10100797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827097PMC
October 2019

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Nucleic Acids Res 2019 07;47(W1):W623-W631

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/nar/gkz326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602489PMC
July 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Sci Immunol 2018 12;3(30)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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http://immunology.sciencemag.org/lookup/doi/10.1126/sciimmun
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http://dx.doi.org/10.1126/sciimmunol.aau8714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341984PMC
December 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.

F1000Res 2017 28;6:2056. Epub 2017 Nov 28.

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

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https://f1000research.com/articles/6-2056/v1
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http://dx.doi.org/10.12688/f1000research.12365.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710381PMC
November 2017

Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.

Curr Opin Allergy Clin Immunol 2017 Dec;17(6):421-430

aChildhood Immunology, Department of Microbiology and Immunology, KU Leuven, Belgium bLaboratory of Genetics of Autoimmunity, Department of Microbiology and Immunology, KU Leuven, Belgium cVIB Center for Brain and Disease Research, Leuven, Belgium dDepartment of Pediatrics, University Hospitals Leuven, Belgium eThe Charles Bronfman Institute of Personalized Medicine fDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

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http://dx.doi.org/10.1097/ACI.0000000000000398DOI Listing
December 2017

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

J Am Coll Cardiol 2017 Apr;69(13):1653-1665

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Pediatric Immunology-Hematology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

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https://linkinghub.elsevier.com/retrieve/pii/S07351097173048
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http://dx.doi.org/10.1016/j.jacc.2017.01.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551973PMC
April 2017

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Cell 2017 02;168(5):789-800.e10

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328639PMC
February 2017

Exome and genome sequencing for inborn errors of immunity.

J Allergy Clin Immunol 2016 10;138(4):957-969

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074686PMC
http://dx.doi.org/10.1016/j.jaci.2016.08.003DOI Listing
October 2016

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Clin Immunol 2016 Dec 28;173:117-120. Epub 2016 Sep 28.

Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.09.011DOI Listing
December 2016

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Front Immunol 2016 13;7:220. Epub 2016 Jun 13.

Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.3389/fimmu.2016.00220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4903998PMC
July 2016

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Proc Natl Acad Sci U S A 2016 06 31;113(24):6713-8. Epub 2016 May 31.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065;

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http://dx.doi.org/10.1073/pnas.1606460113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914194PMC
June 2016

Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications.

Pharmacogenet Genomics 2016 06;26(6):255-70

aResearch Department of Genetics, Evolution and Environment, University College LondonbThe Henry Stewart Group, London, UKcBiotechnology Group, Department of Life Science Engineering, Faculty of New Sciences and Technology, University of Tehran, Tehran, IrandSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USAeDepartment of Microbial, Cellular and Molecular Biology, Addis Ababa University, Addis Ababa, Ethiopia.

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http://dx.doi.org/10.1097/FPC.0000000000000207DOI Listing
June 2016

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

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http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

Can the impact of human genetic variations be predicted?

Proc Natl Acad Sci U S A 2015 Sep 8;112(37):11426-7. Epub 2015 Sep 8.

St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065; Howard Hughes Medical Institute, New York, NY

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http://dx.doi.org/10.1073/pnas.1515057112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577181PMC
September 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

J Exp Med 2015 Jul 6;212(8):1185-202. Epub 2015 Jul 6.

Disorders of Immunity Section, Genetics and Molecular Biology Branch; Zebrafish Core and Oncogenesis and Development Section, Translational and Functional Genomics Branch; Genomics Core, Cancer Genetics and Comparative Genomics Branch; Division of Intramural Research Flow Cytometry Core; and Cytogenetics and Microscopy Core, Genetic Disease Research Branch; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 Division of Immunology and Allergy, University Hospital of Lausanne, 1011 Lausanne, Switzerland

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http://dx.doi.org/10.1084/jem.20141286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516804PMC
July 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
June 2015

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

J Exp Med 2015 Jun 25;212(6):939-51. Epub 2015 May 25.

Division of Immunology and The Manton Center for Orphan Disease Research, Department of Pathology, Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 Harvard Stem Cell Institute, Harvard University, Boston, MA 02115

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http://dx.doi.org/10.1084/jem.20141130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451137PMC
June 2015

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

J Exp Med 2015 May 27;212(5):619-31. Epub 2015 Apr 27.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French Institute of Health and Medical Research (INSERM) U1163, 75015 Paris, France Imagine Institute, Paris Descartes University, 75015 Paris, France St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065

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http://dx.doi.org/10.1084/jem.20141065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419340PMC
May 2015

Novel primary immunodeficiency candidate genes predicted by the human gene connectome.

Front Immunol 2015 1;6:142. Epub 2015 Apr 1.

Rockefeller Branch, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University , New York, NY , USA ; Necker Branch, Laboratory of Human Genetics of Infectious Diseases, INSERM U1163 , Paris , France ; Imagine Institute, University Paris Descartes , Paris , France ; Howard Hughes Medical Institute , New York, NY , USA ; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children , Paris , France.

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http://dx.doi.org/10.3389/fimmu.2015.00142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381650PMC
April 2015

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Proc Natl Acad Sci U S A 2015 Apr 31;112(17):5473-8. Epub 2015 Mar 31.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065;

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http://dx.doi.org/10.1073/pnas.1418631112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418901PMC
April 2015

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.

Science 2015 Apr 26;348(6233):448-53. Epub 2015 Mar 26.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. University Paris Descartes, Imagine Institute, Paris, France. Pediatric Immuno-Hematology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France. Howard Hughes Medical Institute, New York, NY, USA.

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http://dx.doi.org/10.1126/science.aaa1578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431581PMC
April 2015

Evolutionary Genomics.

Evol Bioinform Online 2015 20;11(Suppl 2):53-5. Epub 2016 Apr 20.

Department of Chemical and Biological Engineering, University of Colorado at Boulder, Boulder, CO, USA.

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http://dx.doi.org/10.4137/EBO.S39729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841156PMC
April 2016

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

BMC Genomics 2014 Apr 3;15:256. Epub 2014 Apr 3.

St, Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1186/1471-2164-15-256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051124PMC
April 2014

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data.

Am J Trop Med Hyg 2014 Feb 6;90(2):267-71. Epub 2014 Jan 6.

Department of Microbiology and Immunology, New York Medical College, Valhalla, New York; Laboratory of Populations, The Rockefeller University, New York, New York and Columbia University, New York, New York; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York; Department of Medicine, Georgetown University, Washington, DC.

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http://www.ajtmh.org/content/journals/10.4269/ajtmh.13-0542
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http://dx.doi.org/10.4269/ajtmh.13-0542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919230PMC
February 2014

The human gene connectome as a map of short cuts for morbid allele discovery.

Proc Natl Acad Sci U S A 2013 Apr 18;110(14):5558-63. Epub 2013 Mar 18.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

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http://dx.doi.org/10.1073/pnas.1218167110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3619280PMC
April 2013

Evolutionary genetic dissection of human interferons.

J Exp Med 2011 Dec 12;208(13):2747-59. Epub 2011 Dec 12.

Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, F-75015 Paris, France.

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http://dx.doi.org/10.1084/jem.20111680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244034PMC
December 2011

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France.

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http://dx.doi.org/10.1084/jem.20110958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149226PMC
August 2011

Evolution of lactase persistence: an example of human niche construction.

Philos Trans R Soc Lond B Biol Sci 2011 Mar;366(1566):863-77

Research Department of Genetics, Evolution and Environment, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK.

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http://dx.doi.org/10.1098/rstb.2010.0268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048992PMC
March 2011

Detecting gene duplications in the human lineage.

Ann Hum Genet 2010 Nov;74(6):555-65

Research Department of Genetics, Evolution and Environment, University College London, UK.

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http://dx.doi.org/10.1111/j.1469-1809.2010.00609.xDOI Listing
November 2010

A worldwide correlation of lactase persistence phenotype and genotypes.

BMC Evol Biol 2010 Feb 9;10:36. Epub 2010 Feb 9.

Research Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.

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http://dx.doi.org/10.1186/1471-2148-10-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834688PMC
February 2010

The origins of lactase persistence in Europe.

PLoS Comput Biol 2009 Aug 28;5(8):e1000491. Epub 2009 Aug 28.

Research Department of Genetics, Evolution and Environment, University College London, London, United Kingdom.

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https://dx.plos.org/10.1371/journal.pcbi.1000491
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http://dx.doi.org/10.1371/journal.pcbi.1000491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722739PMC
August 2009

Lactose digestion and the evolutionary genetics of lactase persistence.

Hum Genet 2009 Jan 26;124(6):579-91. Epub 2008 Nov 26.

Department of Genetics Evolution and Environment, University College London, London, UK.

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http://dx.doi.org/10.1007/s00439-008-0593-6DOI Listing
January 2009