Richard P Lifton

Richard P Lifton

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Richard P Lifton

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Recessive Mutations in Cause High Gamma-Glutamyltransferase Cholestasis.

Hepatol Commun 2019 Apr 13;3(4):471-477. Epub 2019 Feb 13.

Department of Internal Medicine, Section of Digestive Diseases Yale University School of Medicine New Haven CT.

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http://doi.wiley.com/10.1002/hep4.1320
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http://dx.doi.org/10.1002/hep4.1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442693PMC
April 2019

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Am J Kidney Dis 2019 Mar 25;73(3):425-428. Epub 2018 Oct 25.

Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2018.08.015DOI Listing
March 2019

Mutations in PERP Cause Dominant and Recessive Keratoderma.

J Invest Dermatol 2019 Feb 12;139(2):380-390. Epub 2018 Oct 12.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183266
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http://dx.doi.org/10.1016/j.jid.2018.08.026DOI Listing
February 2019

Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling.

Proc Natl Acad Sci U S A 2019 02 4;116(8):3155-3160. Epub 2019 Feb 4.

Division of Nephrology, Department of Internal Medicine, Teikyo University School of Medicine, 173-8605 Tokyo, Japan;

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http://dx.doi.org/10.1073/pnas.1817281116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386661PMC
February 2019

Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestor.

Genes Chromosomes Cancer 2018 12 24;57(12):645-652. Epub 2018 Sep 24.

Yale Endocrine Neoplasia Laboratory, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/gcc.22678DOI Listing
December 2018

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

World Neurosurg 2018 Nov 8;119:441-443. Epub 2018 Sep 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA; Department of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1016/j.wneu.2018.09.018DOI Listing
November 2018

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

J Am Acad Dermatol 2018 Sep 1;79(3):487-494. Epub 2018 Mar 1.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183031
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http://dx.doi.org/10.1016/j.jaad.2018.02.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098739PMC
September 2018

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 Sep 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor.

Cell Rep 2018 Jul;24(3):569-576

Department of Genetics, Yale University School of Medicine, New Haven, CT 06511, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.06.072DOI Listing
July 2018

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.

Cell 2018 07;174(3):505-520

Quantitative Biosciences Institute (QBI), University of California, San Francisco, San Francisco, CA 94143, USA; Gladstone Institutes, San Francisco, CA 94158, USA; Department of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA 94143, USA; Helen Diller Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247911PMC
July 2018

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Hypertension 2018 04 26;71(4):691-699. Epub 2018 Feb 26.

From the Department of Medicine (J.K.W., M.S., A.V., W.T., A.D., J.A.L., D.A.B., S.S., K.A., M.J.G.S., N.M.R., M.A.B., G.D., A.Z.T., D.R.S., M.A.F., F.H.), Department of Surgery (H.B.K., K.V.), Department of Cardiology (D.P., J.L., L.B.S., M.N.S.), Department of Neurology (M.J.R.), Department of Radiology (G.C.), and Department of Neurosurgery (E.R.S.), Boston Children's Hospital, Harvard Medical School, MA; Department of Pediatrics, Yale-New Haven Children's Hospital (J.K.W.) and Department of Genetics (S.M.M., R.P.L.), Yale School of Medicine, CT; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel (A.V.); and Laboratory of Human Genetics and Genomics, The Rockefeller University, New York (R.P.L.).

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https://www.ahajournals.org/doi/10.1161/HYPERTENSIONAHA.117.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.10296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843550PMC
April 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.

Am J Hum Genet 2017 Jun;100(6):978-984

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473720PMC
June 2017

Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.

J Clin Invest 2017 Jun 12;127(7):2739-2750. Epub 2017 Jun 12.

Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA.

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https://www.jci.org/articles/view/91733
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http://dx.doi.org/10.1172/JCI91733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490757PMC
June 2017

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Circ Cardiovasc Genet 2017 Feb;10(1)

From the Division of Cardiovascular Medicine (S.B.S., E.S., L.S., M.D.A.Z., B.A., J.G.A., M.M., D.J., A.M.), Yale Program for Cardiovascular Genetics (S.B.S., E.S., L.S., F.H.-S., A.M.), Department of Genetics, Yale School of Medicine, New Haven, CT (D.D., A.E.B., R.P.L., A.M.); Division of Cardiovascular Medicine, Department of Radiology (S.B.S.) and Division of Cardiac Imaging (S.B.S.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA; and Key Laboratory of Clinical Trail Research in Cardiovascular Drugs, Ministry of Health Cardiovascular Institute, Fu Wai Hospital, CAMS and PUMC, Beijing, China (Y.J.).

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https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.116.001
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http://dx.doi.org/10.1161/CIRCGENETICS.116.001573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245580PMC
February 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

Regression of Chemotherapy-Resistant Polymerase ε (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab.

Clin Cancer Res 2016 Dec 2;22(23):5682-5687. Epub 2016 Aug 2.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1158/1078-0432.CCR-16-1031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135588PMC
December 2016

Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.

PLoS Med 2016 Dec 13;13(12):e1002193. Epub 2016 Dec 13.

Department of Medicine, Yale School of Medicine, Yale University, New Haven, Connecticut, United States of America.

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http://dx.doi.org/10.1371/journal.pmed.1002193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154510PMC
December 2016

Digenic mutations of human paralogs in Dent's disease type 2 associated with Chiari I malformation.

Hum Genome Var 2016 8;3:16042. Epub 2016 Dec 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/hgv.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143364PMC
December 2016

Potassium depletion stimulates Na-Cl cotransporter phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3.

Biochem Biophys Res Commun 2016 11 29;480(4):745-751. Epub 2016 Oct 29.

Division of Nephrology, Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan; Division of Clinical Epigenetics, Research center for Advanced Science and Technology, The University of Tokyo, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2016.10.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5144580PMC
November 2016

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Proc Natl Acad Sci U S A 2016 10 19;113(40):11289-11293. Epub 2016 Sep 19.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06517; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065

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http://dx.doi.org/10.1073/pnas.1613228113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056113PMC
October 2016

Pioneering a Global Cure for Chronic Hepatitis C Virus Infection.

Cell 2016 Sep 13;167(1):12-15. Epub 2016 Sep 13.

Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.08.038DOI Listing
September 2016

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Am J Hum Genet 2016 06 12;98(6):1082-1091. Epub 2016 May 12.

Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine and Howard Hughes Medical Institute, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908195PMC
June 2016

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma.

Clin Endocrinol (Oxf) 2016 Apr 22;84(4):632-4. Epub 2015 Sep 22.

Yale Endocrine Neoplasia Laboratory, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1111/cen.12884DOI Listing
April 2016

Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome.

Blood 2016 Feb 23;127(7):948-51. Epub 2015 Dec 23.

Department of Dermatology, Yale School of Medicine, New Haven, CT; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL; Department of Dermatology, Department of Veterans Affairs Connecticut Healthcare, West Haven, CT; and Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.

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http://www.bloodjournal.org/content/early/2015/12/23/blood-2
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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2015-06-65
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http://dx.doi.org/10.1182/blood-2015-06-654277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760095PMC
February 2016

Early and multiple origins of metastatic lineages within primary tumors.

Proc Natl Acad Sci U S A 2016 Feb 8;113(8):2140-5. Epub 2016 Feb 8.

Department of Biostatistics, Yale School of Public Health, New Haven, CT 06510; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT 06520; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06511

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http://www.pnas.org/content/113/8/2140.full.pdf
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http://www.pnas.org/lookup/doi/10.1073/pnas.1525677113
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http://dx.doi.org/10.1073/pnas.1525677113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776530PMC
February 2016

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.

Proc Natl Acad Sci U S A 2016 Feb 10;113(8):2170-5. Epub 2016 Feb 10.

Department of Pathology, University of California, Los Angeles School of Medicine, Los Angeles, CA 90095;

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http://dx.doi.org/10.1073/pnas.1525735113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776463PMC
February 2016

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Hum Mol Genet 2016 Jan 24;25(2):348-57. Epub 2015 Nov 24.

Department of Genetics, Department of Dermatology and Department of Pathology, Yale University School of Medicine, New Haven, CT, USA,

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http://dx.doi.org/10.1093/hmg/ddv481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706118PMC
January 2016

Genes and environment in neonatal intraventricular hemorrhage.

Semin Perinatol 2015 Dec 26;39(8):592-603. Epub 2015 Oct 26.

Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT.

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http://dx.doi.org/10.1053/j.semperi.2015.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668116PMC
December 2015

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Nat Genet 2015 May 13;47(5):512-7. Epub 2015 Apr 13.

1] Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA. [2] Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1038/ng.3278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414891PMC
May 2015

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Proc Natl Acad Sci U S A 2015 Mar 18;112(13):4062-7. Epub 2015 Mar 18.

Departments of Genetics, Howard Hughes Medical Institute, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510; Internal Medicine,

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http://dx.doi.org/10.1073/pnas.1503696112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386328PMC
March 2015

New genetic loci link adipose and insulin biology to body fat distribution.

Authors:
Dmitry Shungin Thomas W Winkler Damien C Croteau-Chonka Teresa Ferreira Adam E Locke Reedik Mägi Rona J Strawbridge Tune H Pers Krista Fischer Anne E Justice Tsegaselassie Workalemahu Joseph M W Wu Martin L Buchkovich Nancy L Heard-Costa Tamara S Roman Alexander W Drong Ci Song Stefan Gustafsson Felix R Day Tonu Esko Tove Fall Zoltán Kutalik Jian'an Luan Joshua C Randall André Scherag Sailaja Vedantam Andrew R Wood Jin Chen Rudolf Fehrmann Juha Karjalainen Bratati Kahali Ching-Ti Liu Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Georg B Ehret Mary F Feitosa Anuj Goel Anne U Jackson Toby Johnson Marcus E Kleber Kati Kristiansson Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Alena Stančáková Yun Ju Sung Toshiko Tanaka Alexander Teumer Jana V Van Vliet-Ostaptchouk Loïc Yengo Weihua Zhang Eva Albrecht Johan Ärnlöv Gillian M Arscott Stefania Bandinelli Amy Barrett Claire Bellis Amanda J Bennett Christian Berne Matthias Blüher Stefan Böhringer Fabrice Bonnet Yvonne Böttcher Marcel Bruinenberg Delia B Carba Ida H Caspersen Robert Clarke E Warwick Daw Joris Deelen Ewa Deelman Graciela Delgado Alex Sf Doney Niina Eklund Michael R Erdos Karol Estrada Elodie Eury Nele Friedrich Melissa E Garcia Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Harald Grallert Tanja B Grammer Jürgen Gräßler Jagvir Grewal Christopher J Groves Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Kauko Heikkilä Karl-Heinz Herzig Quinta Helmer Hans L Hillege Oddgeir Holmen Steven C Hunt Aaron Isaacs Till Ittermann Alan L James Ingegerd Johansson Thorhildur Juliusdottir Ioanna-Panagiota Kalafati Leena Kinnunen Wolfgang Koenig Ishminder K Kooner Wolfgang Kratzer Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Stéphane Lobbens Mattias Lorentzon François Mach Patrik Ke Magnusson Anubha Mahajan Wendy L McArdle Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Rebecca Mills Alireza Moayyeri Keri L Monda Simon P Mooijaart Thomas W Mühleisen Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Ramaiah Nagaraja Michael A Nalls Narisu Narisu Nicola Glorioso Ilja M Nolte Matthias Olden Nigel W Rayner Frida Renstrom Janina S Ried Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Bengt Sennblad Thomas Seufferlein Colleen M Sitlani Albert Vernon Smith Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Andreas Tomaschitz Chiara Troffa Floor Va van Oort Niek Verweij Judith M Vonk Lindsay L Waite Roman Wennauer Tom Wilsgaard Mary K Wojczynski Andrew Wong Qunyuan Zhang Jing Hua Zhao Eoin P Brennan Murim Choi Per Eriksson Lasse Folkersen Anders Franco-Cereceda Ali G Gharavi Åsa K Hedman Marie-France Hivert Jinyan Huang Stavroula Kanoni Fredrik Karpe Sarah Keildson Krzysztof Kiryluk Liming Liang Richard P Lifton Baoshan Ma Amy J McKnight Ruth McPherson Andres Metspalu Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Christian Olsson John Rb Perry Eva Reinmaa Rany M Salem Niina Sandholm Eric E Schadt Robert A Scott Lisette Stolk Edgar E Vallejo Harm-Jan Westra Krina T Zondervan Philippe Amouyel Dominique Arveiler Stephan Jl Bakker John Beilby Richard N Bergman John Blangero Morris J Brown Michel Burnier Harry Campbell Aravinda Chakravarti Peter S Chines Simone Claudi-Boehm Francis S Collins Dana C Crawford John Danesh Ulf de Faire Eco Jc de Geus Marcus Dörr Raimund Erbel Johan G Eriksson Martin Farrall Ele Ferrannini Jean Ferrières Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Christian Gieger Vilmundur Gudnason Christopher A Haiman Tamara B Harris Andrew T Hattersley Markku Heliövaara Andrew A Hicks Aroon D Hingorani Wolfgang Hoffmann Albert Hofman Georg Homuth Steve E Humphries Elina Hyppönen Thomas Illig Marjo-Riitta Jarvelin Berit Johansen Pekka Jousilahti Antti M Jula Jaakko Kaprio Frank Kee Sirkka M Keinanen-Kiukaanniemi Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Kari Kuulasmaa Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Arthur W Musk Stefan Möhlenkamp Andrew D Morris Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Lyle J Palmer Brenda W Penninx Annette Peters Peter P Pramstaller Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Peter Eh Schwarz Alan R Shuldiner Jan A Staessen Valgerdur Steinthorsdottir Ronald P Stolk Konstantin Strauch Anke Tönjes Angelo Tremblay Elena Tremoli Marie-Claude Vohl Uwe Völker Peter Vollenweider James F Wilson Jacqueline C Witteman Linda S Adair Murielle Bochud Bernhard O Boehm Stefan R Bornstein Claude Bouchard Stéphane Cauchi Mark J Caulfield John C Chambers Daniel I Chasman Richard S Cooper George Dedoussis Luigi Ferrucci Philippe Froguel Hans-Jörgen Grabe Anders Hamsten Jennie Hui Kristian Hveem Karl-Heinz Jöckel Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Winfried März Patricia B Munroe Inger Njølstad Ben A Oostra Colin Na Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Juha Sinisalo P Eline Slagboom Harold Snieder Tim D Spector Kari Stefansson Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Giovanni Veronesi Mark Walker Nicholas J Wareham Hugh Watkins H-Erich Wichmann Goncalo R Abecasis Themistocles L Assimes Sonja I Berndt Michael Boehnke Ingrid B Borecki Panos Deloukas Lude Franke Timothy M Frayling Leif C Groop David J Hunter Robert C Kaplan Jeffrey R O'Connell Lu Qi David Schlessinger David P Strachan Unnur Thorsteinsdottir Cornelia M van Duijn Cristen J Willer Peter M Visscher Jian Yang Joel N Hirschhorn M Carola Zillikens Mark I McCarthy Elizabeth K Speliotes Kari E North Caroline S Fox Inês Barroso Paul W Franks Erik Ingelsson Iris M Heid Ruth Jf Loos L Adrienne Cupples Andrew P Morris Cecilia M Lindgren Karen L Mohlke

Nature 2015 Feb;518(7538):187-196

Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.

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February 2015

Genetic studies of body mass index yield new insights for obesity biology.

Authors:
Adam E Locke Bratati Kahali Sonja I Berndt Anne E Justice Tune H Pers Felix R Day Corey Powell Sailaja Vedantam Martin L Buchkovich Jian Yang Damien C Croteau-Chonka Tonu Esko Tove Fall Teresa Ferreira Stefan Gustafsson Zoltán Kutalik Jian'an Luan Reedik Mägi Joshua C Randall Thomas W Winkler Andrew R Wood Tsegaselassie Workalemahu Jessica D Faul Jennifer A Smith Jing Hua Zhao Wei Zhao Jin Chen Rudolf Fehrmann Åsa K Hedman Juha Karjalainen Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bolton Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Guohong Deng Georg B Ehret Bjarke Feenstra Mary F Feitosa Krista Fischer Anuj Goel Jian Gong Anne U Jackson Stavroula Kanoni Marcus E Kleber Kati Kristiansson Unhee Lim Vaneet Lotay Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Sarah E Medland Michael A Nalls Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Dmitry Shungin Alena Stančáková Rona J Strawbridge Yun Ju Sung Toshiko Tanaka Alexander Teumer Stella Trompet Sander W van der Laan Jessica van Setten Jana V Van Vliet-Ostaptchouk Zhaoming Wang Loïc Yengo Weihua Zhang Aaron Isaacs Eva Albrecht Johan Ärnlöv Gillian M Arscott Antony P Attwood Stefania Bandinelli Amy Barrett Isabelita N Bas Claire Bellis Amanda J Bennett Christian Berne Roza Blagieva Matthias Blüher Stefan Böhringer Lori L Bonnycastle Yvonne Böttcher Heather A Boyd Marcel Bruinenberg Ida H Caspersen Yii-Der Ida Chen Robert Clarke E Warwick Daw Anton J M de Craen Graciela Delgado Maria Dimitriou Alex S F Doney Niina Eklund Karol Estrada Elodie Eury Lasse Folkersen Ross M Fraser Melissa E Garcia Frank Geller Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Alison H Goodall Scott D Gordon Mathias Gorski Hans-Jörgen Grabe Harald Grallert Tanja B Grammer Jürgen Gräßler Henrik Grönberg Christopher J Groves Gaëlle Gusto Jeffrey Haessler Per Hall Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Nancy L Heard-Costa Quinta Helmer Christian Hengstenberg Oddgeir Holmen Jouke-Jan Hottenga Alan L James Janina M Jeff Åsa Johansson Jennifer Jolley Thorhildur Juliusdottir Leena Kinnunen Wolfgang Koenig Markku Koskenvuo Wolfgang Kratzer Jaana Laitinen Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Ken Sin Lo Stéphane Lobbens Roberto Lorbeer Yingchang Lu François Mach Patrik K E Magnusson Anubha Mahajan Wendy L McArdle Stela McLachlan Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Alireza Moayyeri Keri L Monda Mario A Morken Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Arthur W Musk Ramaiah Nagaraja Markus M Nöthen Ilja M Nolte Stefan Pilz Nigel W Rayner Frida Renstrom Rainer Rettig Janina S Ried Stephan Ripke Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Fredrick R Schumacher William R Scott Thomas Seufferlein Jianxin Shi Albert Vernon Smith Joanna Smolonska Alice V Stanton Valgerdur Steinthorsdottir Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Jonathan P Tyrer Hae-Won Uh Liesbeth Vandenput Frank C Verhulst Sita H Vermeulen Niek Verweij Judith M Vonk Lindsay L Waite Helen R Warren Dawn Waterworth Michael N Weedon Lynne R Wilkens Christina Willenborg Tom Wilsgaard Mary K Wojczynski Andrew Wong Alan F Wright Qunyuan Zhang Eoin P Brennan Murim Choi Zari Dastani Alexander W Drong Per Eriksson Anders Franco-Cereceda Jesper R Gådin Ali G Gharavi Michael E Goddard Robert E Handsaker Jinyan Huang Fredrik Karpe Sekar Kathiresan Sarah Keildson Krzysztof Kiryluk Michiaki Kubo Jong-Young Lee Liming Liang Richard P Lifton Baoshan Ma Steven A McCarroll Amy J McKnight Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Yukinori Okada John R B Perry Rajkumar Dorajoo Eva Reinmaa Rany M Salem Niina Sandholm Robert A Scott Lisette Stolk Atsushi Takahashi Toshihiro Tanaka Ferdinand M van 't Hooft Anna A E Vinkhuyzen Harm-Jan Westra Wei Zheng Krina T Zondervan Andrew C Heath Dominique Arveiler Stephan J L Bakker John Beilby Richard N Bergman John Blangero Pascal Bovet Harry Campbell Mark J Caulfield Giancarlo Cesana Aravinda Chakravarti Daniel I Chasman Peter S Chines Francis S Collins Dana C Crawford L Adrienne Cupples Daniele Cusi John Danesh Ulf de Faire Hester M den Ruijter Anna F Dominiczak Raimund Erbel Jeanette Erdmann Johan G Eriksson Martin Farrall Stephan B Felix Ele Ferrannini Jean Ferrières Ian Ford Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Pablo V Gejman Christian Gieger Omri Gottesman Vilmundur Gudnason Ulf Gyllensten Alistair S Hall Tamara B Harris Andrew T Hattersley Andrew A Hicks Lucia A Hindorff Aroon D Hingorani Albert Hofman Georg Homuth G Kees Hovingh Steve E Humphries Steven C Hunt Elina Hyppönen Thomas Illig Kevin B Jacobs Marjo-Riitta Jarvelin Karl-Heinz Jöckel Berit Johansen Pekka Jousilahti J Wouter Jukema Antti M Jula Jaakko Kaprio John J P Kastelein Sirkka M Keinanen-Kiukaanniemi Lambertus A Kiemeney Paul Knekt Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Frans L Moll Andrew D Morris Andrew P Morris Jeffrey C Murray Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Pamela A F Madden Gerard Pasterkamp John F Peden Annette Peters Dirkje S Postma Peter P Pramstaller Jackie F Price Lu Qi Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker John D Rioux Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Heribert Schunkert Peter E H Schwarz Peter Sever Alan R Shuldiner Juha Sinisalo Ronald P Stolk Konstantin Strauch Anke Tönjes David-Alexandre Trégouët Angelo Tremblay Elena Tremoli Jarmo Virtamo Marie-Claude Vohl Uwe Völker Gérard Waeber Gonneke Willemsen Jacqueline C Witteman M Carola Zillikens Linda S Adair Philippe Amouyel Folkert W Asselbergs Themistocles L Assimes Murielle Bochud Bernhard O Boehm Eric Boerwinkle Stefan R Bornstein Erwin P Bottinger Claude Bouchard Stéphane Cauchi John C Chambers Stephen J Chanock Richard S Cooper Paul I W de Bakker George Dedoussis Luigi Ferrucci Paul W Franks Philippe Froguel Leif C Groop Christopher A Haiman Anders Hamsten Jennie Hui David J Hunter Kristian Hveem Robert C Kaplan Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Nicholas G Martin Winfried März Mads Melbye Andres Metspalu Susanne Moebus Patricia B Munroe Inger Njølstad Ben A Oostra Colin N A Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Naveed Sattar Eric E Schadt David Schlessinger P Eline Slagboom Harold Snieder Tim D Spector Unnur Thorsteinsdottir Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins David R Weir H-Erich Wichmann James F Wilson Pieter Zanen Ingrid B Borecki Panos Deloukas Caroline S Fox Iris M Heid Jeffrey R O'Connell David P Strachan Kari Stefansson Cornelia M van Duijn Gonçalo R Abecasis Lude Franke Timothy M Frayling Mark I McCarthy Peter M Visscher André Scherag Cristen J Willer Michael Boehnke Karen L Mohlke Cecilia M Lindgren Jacques S Beckmann Inês Barroso Kari E North Erik Ingelsson Joel N Hirschhorn Ruth J F Loos Elizabeth K Speliotes

Nature 2015 Feb;518(7538):197-206

Department of Internal Medicine, Division of Gastroenterology, and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382211PMC
February 2015