Andrew C Edmondson

Andrew C Edmondson

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Andrew C Edmondson

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Am J Hum Genet 2019 May 11;104(5):835-846. Epub 2019 Apr 11.

Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193009
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http://dx.doi.org/10.1016/j.ajhg.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506806PMC
May 2019

A human case of SLC35A3-related skeletal dysplasia.

Am J Med Genet A 2017 Oct 4;173(10):2758-2762. Epub 2017 Aug 4.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38374DOI Listing
October 2017

Erratum.

JIMD Rep 2017 ;33:109-110

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.

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http://dx.doi.org/10.1007/8904_2017_587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413458PMC
January 2017

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

Am J Med Genet A 2016 12 29;170(12):3333-3337. Epub 2016 Aug 29.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37956DOI Listing
December 2016

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

JIMD Rep 2017 12;33:93-97. Epub 2016 Apr 12.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.

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http://link.springer.com/10.1007/8904_2016_528
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http://dx.doi.org/10.1007/8904_2016_528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413452PMC
April 2016

Overgrowth Syndromes.

J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.

Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1055/s-0035-1564440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918719PMC
September 2015

An 8-year-old girl with abdominal pain and mental status changes.

Pediatr Emerg Care 2015 Jun;31(6):459-62

Section of Metabolic Disease The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia, PA.

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http://dx.doi.org/10.1097/PEC.0000000000000504DOI Listing
June 2015

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Authors:
Zari Dastani Marie-France Hivert Nicholas Timpson John R B Perry Xin Yuan Robert A Scott Peter Henneman Iris M Heid Jorge R Kizer Leo-Pekka Lyytikäinen Christian Fuchsberger Toshiko Tanaka Andrew P Morris Kerrin Small Aaron Isaacs Marian Beekman Stefan Coassin Kurt Lohman Lu Qi Stavroula Kanoni James S Pankow Hae-Won Uh Ying Wu Aurelian Bidulescu Laura J Rasmussen-Torvik Celia M T Greenwood Martin Ladouceur Jonna Grimsby Alisa K Manning Ching-Ti Liu Jaspal Kooner Vincent E Mooser Peter Vollenweider Karen A Kapur John Chambers Nicholas J Wareham Claudia Langenberg Rune Frants Ko Willems-Vandijk Ben A Oostra Sara M Willems Claudia Lamina Thomas W Winkler Bruce M Psaty Russell P Tracy Jennifer Brody Ida Chen Jorma Viikari Mika Kähönen Peter P Pramstaller David M Evans Beate St Pourcain Naveed Sattar Andrew R Wood Stefania Bandinelli Olga D Carlson Josephine M Egan Stefan Böhringer Diana van Heemst Lyudmyla Kedenko Kati Kristiansson Marja-Liisa Nuotio Britt-Marie Loo Tamara Harris Melissa Garcia Alka Kanaya Margot Haun Norman Klopp H-Erich Wichmann Panos Deloukas Efi Katsareli David J Couper Bruce B Duncan Margreet Kloppenburg Linda S Adair Judith B Borja James G Wilson Solomon Musani Xiuqing Guo Toby Johnson Robert Semple Tanya M Teslovich Matthew A Allison Susan Redline Sarah G Buxbaum Karen L Mohlke Ingrid Meulenbelt Christie M Ballantyne George V Dedoussis Frank B Hu Yongmei Liu Bernhard Paulweber Timothy D Spector P Eline Slagboom Luigi Ferrucci Antti Jula Markus Perola Olli Raitakari Jose C Florez Veikko Salomaa Johan G Eriksson Timothy M Frayling Andrew A Hicks Terho Lehtimäki George Davey Smith David S Siscovick Florian Kronenberg Cornelia van Duijn Ruth J F Loos Dawn M Waterworth James B Meigs Josee Dupuis J Brent Richards Benjamin F Voight Laura J Scott Valgerdur Steinthorsdottir Christian Dina Ryan P Welch Eleftheria Zeggini Cornelia Huth Yurii S Aulchenko Gudmar Thorleifsson Laura J McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J Willer Soumya Raychaudhuri Steve A McCarroll Oliver M Hofmann Ayellet V Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J Bennett Roza Blagieva Eric Boerwinkle Lori L Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noël P Burtt Guillaume Charpentier Peter S Chines Marilyn Cornelis Gabe Crawford Alex S F Doney Katherine S Elliott Amanda L Elliott Michael R Erdos Caroline S Fox Christopher S Franklin Martha Ganser Christian Gieger Niels Grarup Todd Green Simon Griffin Christopher J Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne U Jackson Paul R V Johnson Torben Jørgensen Wen H L Kao Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius Lieverse Cecilia M Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A Morken Narisu Narisu Peter Nilsson Katharine R Owen Felicity Payne Ann-Kristin Petersen Carl Platou Christine Proença Inga Prokopenko Wolfgang Rathmann N William Rayner Neil R Robertson Ghislain Rocheleau Michael Roden Michael J Sampson Richa Saxena Beverley M Shields Peter Shrader Gunnar Sigurdsson Thomas Sparsø Klaus Strassburger Heather M Stringham Qi Sun Amy J Swift Barbara Thorand Jean Tichet Tiinamaija Tuomi Rob M van Dam Timon W van Haeften Thijs van Herpt Jana V van Vliet-Ostaptchouk G Bragi Walters Michael N Weedon Cisca Wijmenga Jacqueline Witteman Richard N Bergman Stephane Cauchi Francis S Collins Anna L Gloyn Ulf Gyllensten Torben Hansen Winston A Hide Graham A Hitman Albert Hofman David J Hunter Kristian Hveem Markku Laakso Andrew D Morris Colin N A Palmer Igor Rudan Eric Sijbrands Lincoln D Stein Jaakko Tuomilehto Andre Uitterlinden Mark Walker Richard M Watanabe Goncalo R Abecasis Bernhard O Boehm Harry Campbell Mark J Daly Andrew T Hattersley Oluf Pedersen Inês Barroso Leif Groop Rob Sladek Unnur Thorsteinsdottir James F Wilson Thomas Illig Philippe Froguel Cornelia M van Duijn Kari Stefansson David Altshuler Michael Boehnke Mark I McCarthy Nicole Soranzo Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Reedik Mägi Joshua Randall Paul Elliott Denis Rybin Abbas Dehghan Jouke Jan Hottenga Kijoung Song Anuj Goel Taina Lajunen Alex Doney Christine Cavalcanti-Proença Meena Kumari Nicholas J Timpson Carina Zabena Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Rosa Maria Roccasecca François Pattou Praveen Sethupathy Yavuz Ariyurek Philip Barter John P Beilby Yoav Ben-Shlomo Sven Bergmann Murielle Bochud Amélie Bonnefond Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Scott Grundy Rhian Gwilliam Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Caroline Hayward Simon C Heath Serge Hercberg David R Hillman Aroon D Hingorani Jennie Hui Joe Hung Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Robert Mahley Massimo Mangino María Teresa Martínez-Larrad Jarred B McAteer Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Sutapa Mukherjee Silvia Naitza Matthew J Neville Marco Orrù Ruth Pakyz Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Udo Seedorf Stephen J Sharp Beverley Shields Gunnar Sigurðsson Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Anke Tönjes André G Uitterlinden Ko Willems van Dijk Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley Kim L Ward Hugh Watkins Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Kaisa Silander Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper Manuel Serrano-Ríos Lars Lind Lyle J Palmer Frank B Hu Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao Peter Paul Pramstaller Alan F Wright Michael Stumvoll Anders Hamsten Thomas A Buchanan Timo T Valle Jerome I Rotter Brenda W J H Penninx Dorret I Boomsma Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Leena Peltonen Vincent Mooser Robert Sladek Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Daniel I Chasman Christopher T Johansen Sigrid W Fouchier Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Mary F Feitosa Marju Orho-Melander Olle Melander Xiaohui Li Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Andreas Ziegler Weihua Zhang Robert Y L Zee John B Whitfield John R Thompson Ida Surakka Tim D Spector Johannes H Smit Juha Sinisalo James Scott Juha Saharinen Chiara Sabatti Lynda M Rose Robert Roberts Mark Rieder Alex N Parker Guillaume Pare Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Gavin Lucas Robert Luben Marja-Liisa Lokki Guillaume Lettre Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Inke R König Kay-Tee Khaw Lee M Kaplan Åsa Johansson A Cecile J W Janssens Wilmar Igl G Kees Hovingh Christian Hengstenberg Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Leif C Groop Elena Gonzalez Nelson B Freimer Jeanette Erdmann Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Ulf de Faire Gabriel Crawford Yii-der I Chen Mark J Caulfield S Matthijs Boekholdt Themistocles L Assimes Thomas Quertermous Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Herman A Taylor Stacey B Gabriel Hilma Holm Vilmundur Gudnason Ronald M Krauss Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt David P Strachan Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Sekar Kathiresan

PLoS Genet 2012 29;8(3):e1002607. Epub 2012 Mar 29.

Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1002607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315470PMC
September 2012

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.

J Clin Invest 2012 Aug 2;122(8):2807-16. Epub 2012 Jul 2.

Institute for Translational Medicine and Therapeutics, Cardiovascular Institute, and Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://www.jci.org/articles/view/63563
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http://dx.doi.org/10.1172/JCI63563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408750PMC
August 2012

A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies.

Biostatistics 2012 Jul 19;13(3):497-508. Epub 2011 Sep 19.

Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/biostatistics/kxr025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372941PMC
July 2012

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.

PLoS Genet 2011 Dec 8;7(12):e1002393. Epub 2011 Dec 8.

Institute for Translational Medicine and Therapeutics, Institute for Diabetes, Obesity, and Metabolism, and Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234219PMC
December 2011

Gene-based interaction analysis by incorporating external linkage disequilibrium information.

Eur J Hum Genet 2011 Feb 6;19(2):164-72. Epub 2010 Oct 6.

Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1038/ejhg.2010.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025792PMC
February 2011

Biological, clinical and population relevance of 95 loci for blood lipids.

Authors:
Tanya M Teslovich Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Samuli Ripatti Daniel I Chasman Cristen J Willer Christopher T Johansen Sigrid W Fouchier Aaron Isaacs Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Yurii S Aulchenko Gudmar Thorleifsson Mary F Feitosa John Chambers Marju Orho-Melander Olle Melander Toby Johnson Xiaohui Li Xiuqing Guo Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Kijoung Song Jing Hua Zhao Xin Yuan Jian'an Luan Claudia Lamina Andreas Ziegler Weihua Zhang Robert Y L Zee Alan F Wright Jacqueline C M Witteman James F Wilson Gonneke Willemsen H-Erich Wichmann John B Whitfield Dawn M Waterworth Nicholas J Wareham Gérard Waeber Peter Vollenweider Benjamin F Voight Veronique Vitart Andre G Uitterlinden Manuela Uda Jaakko Tuomilehto John R Thompson Toshiko Tanaka Ida Surakka Heather M Stringham Tim D Spector Nicole Soranzo Johannes H Smit Juha Sinisalo Kaisa Silander Eric J G Sijbrands Angelo Scuteri James Scott David Schlessinger Serena Sanna Veikko Salomaa Juha Saharinen Chiara Sabatti Aimo Ruokonen Igor Rudan Lynda M Rose Robert Roberts Mark Rieder Bruce M Psaty Peter P Pramstaller Irene Pichler Markus Perola Brenda W J H Penninx Nancy L Pedersen Cristian Pattaro Alex N Parker Guillaume Pare Ben A Oostra Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Thomas Meitinger Ruth McPherson Mark I McCarthy Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Massimo Mangino Patrik K E Magnusson Gavin Lucas Robert Luben Ruth J F Loos Marja-Liisa Lokki Guillaume Lettre Claudia Langenberg Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Florian Kronenberg Inke R König Kay-Tee Khaw Jaakko Kaprio Lee M Kaplan Asa Johansson Marjo-Riitta Jarvelin A Cecile J W Janssens Erik Ingelsson Wilmar Igl G Kees Hovingh Jouke-Jan Hottenga Albert Hofman Andrew A Hicks Christian Hengstenberg Iris M Heid Caroline Hayward Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Ulf Gyllensten Candace Guiducci Leif C Groop Elena Gonzalez Christian Gieger Nelson B Freimer Luigi Ferrucci Jeanette Erdmann Paul Elliott Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Eco J C de Geus Ulf de Faire Gabriel Crawford Francis S Collins Yii-der I Chen Mark J Caulfield Harry Campbell Noel P Burtt Lori L Bonnycastle Dorret I Boomsma S Matthijs Boekholdt Richard N Bergman Inês Barroso Stefania Bandinelli Christie M Ballantyne Themistocles L Assimes Thomas Quertermous David Altshuler Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Linda S Adair Herman A Taylor Ingrid B Borecki Stacey B Gabriel James G Wilson Hilma Holm Unnur Thorsteinsdottir Vilmundur Gudnason Ronald M Krauss Karen L Mohlke Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt Jerome I Rotter Eric Boerwinkle David P Strachan Vincent Mooser Kari Stefansson Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Cornelia M van Duijn Leena Peltonen Gonçalo R Abecasis Michael Boehnke Sekar Kathiresan

Nature 2010 Aug;466(7307):707-13

Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1038/nature09270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039276PMC
August 2010

A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis.

J Lipid Res 2009 Sep 3;50(9):1910-6. Epub 2009 May 3.

Department of Medicine and Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104.

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http://dx.doi.org/10.1194/jlr.P900020-JLR200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2724790PMC
September 2009

Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana.

Mol Genet Genomics 2005 Apr 3;273(2):115-22. Epub 2005 Mar 3.

Department of Microbiology and Molecular Biology, Brigham Young University, 775 WIDB, Provo, UT, 84602, USA.

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http://dx.doi.org/10.1007/s00438-004-1106-5DOI Listing
April 2005