Publications by authors named "Diana Johnson"

98Publications

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

J Med Genet 2020 Nov 28;57(11):769-776. Epub 2020 May 28.

National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, UK

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http://dx.doi.org/10.1136/jmedgenet-2019-106689DOI Listing
November 2020

Oseltamivir use in pregnancy: Risk of birth defects, preterm delivery, and small for gestational age infants.

Birth Defects Res 2019 11 8;111(19):1487-1493. Epub 2019 Aug 8.

Department of Pediatrics, University of California San Diego, La Jolla, California.

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http://dx.doi.org/10.1002/bdr2.1566DOI Listing
November 2019

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Am J Med Genet A 2019 01 17;179(1):43-49. Epub 2018 Dec 17.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.60678
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http://dx.doi.org/10.1002/ajmg.a.60678DOI Listing
January 2019

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Clin Genet 2019 02 24;95(2):334-335. Epub 2018 Oct 24.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1111/cge.13456DOI Listing
February 2019

Approach to evaluating pregnancy safety of anti-rheumatic medications in the OTIS MotherToBaby pregnancy studies: what have we learned?

Rheumatology (Oxford) 2018 07;57(suppl_5):v34-v39

Department of Pediatrics, Division of Dysmorphology and Teratology, University of California San Diego, La Jolla, CA, USA.

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http://dx.doi.org/10.1093/rheumatology/key081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099128PMC
July 2018

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Eur J Med Genet 2019 Feb 14;62(2):109-114. Epub 2018 Jun 14.

Wellcome Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.011DOI Listing
February 2019

Corrigendum: Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution.

Authors:
Christopher Abbosh Nicolai J Birkbak Gareth A Wilson Mariam Jamal-Hanjani Tudor Constantin Raheleh Salari John Le Quesne David A Moore Selvaraju Veeriah Rachel Rosenthal Teresa Marafioti Eser Kirkizlar Thomas B K Watkins Nicholas McGranahan Sophia Ward Luke Martinson Joan Riley Francesco Fraioli Maise Al Bakir Eva Grönroos Francisco Zambrana Raymondo Endozo Wenya Linda Bi Fiona M Fennessy Nicole Sponer Diana Johnson Joanne Laycock Seema Shafi Justyna Czyzewska-Khan Andrew Rowan Tim Chambers Nik Matthews Samra Turajlic Crispin Hiley Siow Ming Lee Martin D Forster Tanya Ahmad Mary Falzon Elaine Borg David Lawrence Martin Hayward Shyam Kolvekar Nikolaos Panagiotopoulos Sam M Janes Ricky Thakrar Asia Ahmed Fiona Blackhall Yvonne Summers Dina Hafez Ashwini Naik Apratim Ganguly Stephanie Kareht Rajesh Shah Leena Joseph Anne Marie Quinn Phil A Crosbie Babu Naidu Gary Middleton Gerald Langman Simon Trotter Marianne Nicolson Hardy Remmen Keith Kerr Mahendran Chetty Lesley Gomersall Dean A Fennell Apostolos Nakas Sridhar Rathinam Girija Anand Sajid Khan Peter Russell Veni Ezhil Babikir Ismail Melanie Irvin-Sellers Vineet Prakash Jason F Lester Malgorzata Kornaszewska Richard Attanoos Haydn Adams Helen Davies Dahmane Oukrif Ayse U Akarca John A Hartley Helen L Lowe Sara Lock Natasha Iles Harriet Bell Yenting Ngai Greg Elgar Zoltan Szallasi Roland F Schwarz Javier Herrero Aengus Stewart Sergio A Quezada Karl S Peggs Peter Van Loo Caroline Dive C Jimmy Lin Matthew Rabinowitz Hugo J W L Aerts Allan Hackshaw Jacqui A Shaw Bernhard G Zimmermann Charles Swanton

Nature 2018 02 20;554(7691):264. Epub 2017 Dec 20.

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http://dx.doi.org/10.1038/nature25161DOI Listing
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Neuromuscul Disord 2017 Nov 10;27(11):1054-1064. Epub 2017 Jul 10.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173013
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http://dx.doi.org/10.1016/j.nmd.2017.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678293PMC
November 2017

Retrotransposons Are the Major Contributors to the Expansion of the Muller F Element.

Authors:
Wilson Leung Christopher D Shaffer Elizabeth J Chen Thomas J Quisenberry Kevin Ko John M Braverman Thomas C Giarla Nathan T Mortimer Laura K Reed Sheryl T Smith Srebrenka Robic Shannon R McCartha Danielle R Perry Lindsay M Prescod Zenyth A Sheppard Ken J Saville Allison McClish Emily A Morlock Victoria R Sochor Brittney Stanton Isaac C Veysey-White Dennis Revie Luis A Jimenez Jennifer J Palomino Melissa D Patao Shane M Patao Edward T Himelblau Jaclyn D Campbell Alexandra L Hertz Maddison F McEvilly Allison R Wagner James Youngblom Baljit Bedi Jeffery Bettincourt Erin Duso Maiye Her William Hilton Samantha House Masud Karimi Kevin Kumimoto Rebekah Lee Darryl Lopez George Odisho Ricky Prasad Holly Lyn Robbins Tanveer Sandhu Tracy Selfridge Kara Tsukashima Hani Yosif Nighat P Kokan Latia Britt Alycia Zoellner Eric P Spana Ben T Chlebina Insun Chong Harrison Friedman Danny A Mammo Chun L Ng Vinayak S Nikam Nicholas U Schwartz Thomas Q Xu Martin G Burg Spencer M Batten Lindsay M Corbeill Erica Enoch Jesse J Ensign Mary E Franks Breanna Haiker Judith A Ingles Lyndsay D Kirkland Joshua M Lorenz-Guertin Jordan Matthews Cody M Mittig Nicholaus Monsma Katherine J Olson Guillermo Perez-Aragon Alen Ramic Jordan R Ramirez Christopher Scheiber Patrick A Schneider Devon E Schultz Matthew Simon Eric Spencer Adam C Wernette Maxine E Wykle Elizabeth Zavala-Arellano Mitchell J McDonald Kristine Ostby Peter Wendland Justin R DiAngelo Alexis M Ceasrine Amanda H Cox James E B Docherty Robert M Gingras Stephanie M Grieb Michael J Pavia Casey L Personius Grzegorz L Polak Dale L Beach Heaven L Cerritos Edward A Horansky Karim A Sharif Ryan Moran Susan Parrish Kirsten Bickford Jennifer Bland Juliana Broussard Kerry Campbell Katelynn E Deibel Richard Forka Monika C Lemke Marlee B Nelson Catherine O'Keeffe S Mariel Ramey Luke Schmidt Paola Villegas Christopher J Jones Stephanie L Christ Sami Mamari Adam S Rinaldi Ghazal Stity Amy T Hark Mark Scheuerman S Catherine Silver Key Briana D McRae Adam S Haberman Sam Asinof Harriette Carrington Kelly Drumm Terrance Embry Richard McGuire Drew Miller-Foreman Stella Rosen Nadia Safa Darrin Schultz Matt Segal Yakov Shevin Petros Svoronos Tam Vuong Gary Skuse Don W Paetkau Rachael K Bridgman Charlotte M Brown Alicia R Carroll Francesca M Gifford Julie Beth Gillespie Susan E Herman Krystal L Holtcamp Misha A Host Gabrielle Hussey Danielle M Kramer Joan Q Lawrence Madeline M Martin Ellen N Niemiec Ashleigh P O'Reilly Olivia A Pahl Guadalupe Quintana Elizabeth A S Rettie Torie L Richardson Arianne E Rodriguez Mona O Rodriguez Laura Schiraldi Joanna J Smith Kelsey F Sugrue Lindsey J Suriano Kaitlyn E Takach Arielle M Vasquez Ximena Velez Elizabeth J Villafuerte Laura T Vives Victoria R Zellmer Jeanette Hauke Charles R Hauser Karolyn Barker Laurie Cannon Perouza Parsamian Samantha Parsons Zachariah Wichman Christopher W Bazinet Diana E Johnson Abubakarr Bangura Jordan A Black Victoria Chevee Sarah A Einsteen Sarah K Hilton Max Kollmer Rahul Nadendla Joyce Stamm Antoinette E Fafara-Thompson Amber M Gygi Emmy E Ogawa Matt Van Camp Zuzana Kocsisova Judith L Leatherman Cassie M Modahl Michael R Rubin Susana S Apiz-Saab Suzette M Arias-Mejias Carlos F Carrion-Ortiz Patricia N Claudio-Vazquez Debbie M Espada-Green Marium Feliciano-Camacho Karina M Gonzalez-Bonilla Mariela Taboas-Arroyo Dorianmarie Vargas-Franco Raquel Montañez-Gonzalez Joseph Perez-Otero Myrielis Rivera-Burgos Francisco J Rivera-Rosario Heather L Eisler Jackie Alexander Samatha K Begley Deana Gabbard Robert J Allen Wint Yan Aung William D Barshop Amanda Boozalis Vanessa P Chu Jeremy S Davis Ryan N Duggal Robert Franklin Katherine Gavinski Heran Gebreyesus Henry Z Gong Rachel A Greenstein Averill D Guo Casey Hanson Kaitlin E Homa Simon C Hsu Yi Huang Lucy Huo Sarah Jacobs Sasha Jia Kyle L Jung Sarah Wai-Chee Kong Matthew R Kroll Brandon M Lee Paul F Lee Kevin M Levine Amy S Li Chengyu Liu Max Mian Liu Adam P Lousararian Peter B Lowery Allyson P Mallya Joseph E Marcus Patrick C Ng Hien P Nguyen Ruchik Patel Hashini Precht Suchita Rastogi Jonathan M Sarezky Adam Schefkind Michael B Schultz Delia Shen Tara Skorupa Nicholas C Spies Gabriel Stancu Hiu Man Vivian Tsang Alice L Turski Rohit Venkat Leah E Waldman Kaidi Wang Tracy Wang Jeffrey W Wei Dennis Y Wu David D Xiong Jack Yu Karen Zhou Gerard P McNeil Robert W Fernandez Patrick Gomez Menzies Tingting Gu Jeremy Buhler Elaine R Mardis Sarah C R Elgin

G3 (Bethesda) 2017 08 7;7(8):2439-2460. Epub 2017 Aug 7.

Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.

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http://g3journal.org/lookup/doi/10.1534/g3.117.040907
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http://dx.doi.org/10.1534/g3.117.040907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555453PMC
August 2017

Wbp2nl has a developmental role in establishing neural and non-neural ectodermal fates.

Dev Biol 2017 09 27;429(1):213-224. Epub 2017 Jun 27.

Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington DC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00121606173027
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http://dx.doi.org/10.1016/j.ydbio.2017.06.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554722PMC
September 2017

Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution.

Authors:
Christopher Abbosh Nicolai J Birkbak Gareth A Wilson Mariam Jamal-Hanjani Tudor Constantin Raheleh Salari John Le Quesne David A Moore Selvaraju Veeriah Rachel Rosenthal Teresa Marafioti Eser Kirkizlar Thomas B K Watkins Nicholas McGranahan Sophia Ward Luke Martinson Joan Riley Francesco Fraioli Maise Al Bakir Eva Grönroos Francisco Zambrana Raymondo Endozo Wenya Linda Bi Fiona M Fennessy Nicole Sponer Diana Johnson Joanne Laycock Seema Shafi Justyna Czyzewska-Khan Andrew Rowan Tim Chambers Nik Matthews Samra Turajlic Crispin Hiley Siow Ming Lee Martin D Forster Tanya Ahmad Mary Falzon Elaine Borg David Lawrence Martin Hayward Shyam Kolvekar Nikolaos Panagiotopoulos Sam M Janes Ricky Thakrar Asia Ahmed Fiona Blackhall Yvonne Summers Dina Hafez Ashwini Naik Apratim Ganguly Stephanie Kareht Rajesh Shah Leena Joseph Anne Marie Quinn Phil A Crosbie Babu Naidu Gary Middleton Gerald Langman Simon Trotter Marianne Nicolson Hardy Remmen Keith Kerr Mahendran Chetty Lesley Gomersall Dean A Fennell Apostolos Nakas Sridhar Rathinam Girija Anand Sajid Khan Peter Russell Veni Ezhil Babikir Ismail Melanie Irvin-Sellers Vineet Prakash Jason F Lester Malgorzata Kornaszewska Richard Attanoos Haydn Adams Helen Davies Dahmane Oukrif Ayse U Akarca John A Hartley Helen L Lowe Sara Lock Natasha Iles Harriet Bell Yenting Ngai Greg Elgar Zoltan Szallasi Roland F Schwarz Javier Herrero Aengus Stewart Sergio A Quezada Karl S Peggs Peter Van Loo Caroline Dive C Jimmy Lin Matthew Rabinowitz Hugo J W L Aerts Allan Hackshaw Jacqui A Shaw Bernhard G Zimmermann Charles Swanton

Nature 2017 04;545(7655):446-451

Cancer Research UK Lung Cancer Centre of Excellence London and Manchester, University College London Cancer Institute, Paul O'Gorman Building, 72 Huntley Street, London WC1E 6DD, UK.

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http://dx.doi.org/10.1038/nature22364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812436PMC
April 2017

Tracking the Evolution of Non-Small-Cell Lung Cancer.

N Engl J Med 2017 06 26;376(22):2109-2121. Epub 2017 Apr 26.

From the Cancer Research UK Lung Cancer Centre of Excellence (M.J.-H., G.A.W., N. McGranahan, N.J.B., S.V., S.S., D.H.J., R.R., S.-M.L., M.D.F., C.A., S.M.J., C.D., C.S.), London and Manchester, Good Clinical Laboratory Practice Facility, University College London (UCL) Experimental Cancer Medicine Centre (H.L.L., J.A.H.), Bill Lyons Informatics Centre (J.H.), and Cancer Immunology Unit (S.A.Q.), UCL Cancer Institute, the Translational Cancer Therapeutics Laboratory (G.A.W., N. McGranahan, N.J.B., T.B.K.W., A.R., T.C., S. Turajlic, H.X., C.T.H., C.S.), Department of Bioinformatics and Biostatistics (R.M., M.S., S.H., M.E., A.S.), Advanced Sequencing Facility (N. Matthews), and Cancer Genomics Laboratory (S.D., P.V.L.), Francis Crick Institute, the Renal and Skin Units, Royal Marsden Hospital (S. Turajlic), the Departments of Medical Oncology (M.J.-H., S.-M.L., M.D.F., T.A., C.A., C.S.), Pathology (M.F., E.B., T.M.), Cardiothoracic Surgery (D.L., M.H., S. Kolvekar, N.P.), Respiratory Medicine (S.M.J., R.T.), and Radiology (A.A.), UCL Hospitals, Lungs for Living, UCL Respiratory, UCL (S.M.J.), the Department of Radiotherapy, North Middlesex University Hospital (G.A.), the Department of Respiratory Medicine, Royal Free Hospital (S. Khan), and UCL Cancer Research UK and Cancer Trials Centre (N.I., H.B., Y.N., A.H.), London, Cancer Studies, University of Leicester (D.A.M., D.A.F., J.A.S., J.L.Q.), the Department of Thoracic Surgery, Glenfield Hospital (A.N., S.R.), and the Medical Research Center Toxicology Unit (J.L.Q.), Leicester, the Institute of Cancer Studies, University of Manchester (F.B.), the Christie Hospital (F.B., Y.S.), the Departments of Cardiothoracic Surgery (R.S.) and Pathology (L.J., A.M.Q.) and the North West Lung Centre (P.A.C.), University Hospital of South Manchester, and Cancer Research UK Manchester Institute (C.D.), Manchester, the Departments of Thoracic Surgery (B.N.) and Cellular Pathology (G.L., S. Trotter), Birmingham Heartlands Hospital, Molecular Pathology Diagnostic Services, Queen Elizabeth Hospital (P.T., B.O.), and Institute of Immunology and Immunotherapy, University of Birmingham (G.M.), Birmingham, the Departments of Medical Oncology (M.N.), Cardiothoracic Surgery (H.R.), Pathology (K.K.), Respiratory Medicine (M.C.), and Radiology (L.G.), Aberdeen University Medical School and Aberdeen Royal Infirmary, Aberdeen, the Department of Respiratory Medicine, Barnet and Chase Farm Hospitals, Barnet (S. Khan), the Department of Respiratory Medicine, Princess Alexandra Hospital, Harlow (P.R.), the Department of Clinical Oncology, St. Luke's Cancer Centre, Guildford (V.E.), the Departments of Pathology (B.I.), Respiratory Medicine (M.I.-S.), and Radiology (V.P.), Ashford and St. Peters' Hospitals, Surrey, the Department of Clinical Oncology, Velindre Hospital (J.F.L.), the Departments of Radiology (H.A.) and Respiratory Medicine (H.D.), University Hospital Llandough, the Departments of Pathology (R.A.) and Cardiothoracic Surgery (M.K.), University Hospital of Wales, and Cardiff University (R.A.), Cardiff, and Wellcome Trust Sanger Institute, Hinxton, and Big Data Institute, University of Oxford, Oxford (S.D.) - all in the United Kingdom; the Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Lyngby (Z.S.); the Computational Health Informatics Program, Boston Children's Hospital and Harvard Medical School, Boston (Z.S.); MTA-SE-NAP, Brain Metastasis Research Group, 2nd Department of Pathology, Semmelweis University, Budapest, Hungary (Z.S.); Berlin Institute for Medical Systems Biology, Max Delbrueck Center for Molecular Medicine, Berlin (R.F.S.); and the Department of Human Genetics, University of Leuven, Leuven, Belgium (P.V.L.).

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http://dx.doi.org/10.1056/NEJMoa1616288DOI Listing
June 2017

Consistency of maternal telephone administration of the asthma control test using postpartum recall compared to repeated measures during pregnancy.

J Asthma 2017 May 2;54(4):430-438. Epub 2016 Sep 2.

a Department of Family Medicine and Public Health , University of California, San Diego , La Jolla , CA , USA.

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http://dx.doi.org/10.1080/02770903.2016.1218016DOI Listing
May 2017

An Eye on Trafficking Genes: Identification of Four Eye Color Mutations in Drosophila.

G3 (Bethesda) 2016 10 13;6(10):3185-3196. Epub 2016 Oct 13.

Department of Biological Sciences, The George Washington University, Washington, DC 20052

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http://dx.doi.org/10.1534/g3.116.032508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068940PMC
October 2016

Safety of the 2010-11, 2011-12, 2012-13, and 2013-14 seasonal influenza vaccines in pregnancy: Birth defects, spontaneous abortion, preterm delivery, and small for gestational age infants, a study from the cohort arm of VAMPSS.

Vaccine 2016 08 20;34(37):4443-9. Epub 2016 Jul 20.

Department of Pediatrics, University of California San Diego, La Jolla, CA, United States; Vaccines and Medications in Pregnancy Surveillance System, United States.

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http://dx.doi.org/10.1016/j.vaccine.2016.06.054DOI Listing
August 2016

Validation of the Pregnancy Asthma Control Test.

J Allergy Clin Immunol Pract 2016 Mar-Apr;4(2):310-5.e1. Epub 2016 Jan 5.

Department of Pediatrics, University of California, San Diego, La Jolla, Calif; Department of Family Medicine and Public Health, University of California, San Diego, La Jolla, Calif.

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http://dx.doi.org/10.1016/j.jaip.2015.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789157PMC
December 2016

Russel-Silver syndrome: A historical note and comment on an older adult.

Am J Med Genet A 2016 Feb 3;170A(2):466-470. Epub 2015 Nov 3.

Clinical Genetics, Sheffield Children's Hospital, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37442DOI Listing
February 2016

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

Absence of heterozygosity due to template switching during replicative rearrangements.

Am J Hum Genet 2015 Apr 19;96(4):555-64. Epub 2015 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385179PMC
April 2015

Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution.

Authors:
Wilson Leung Christopher D Shaffer Laura K Reed Sheryl T Smith William Barshop William Dirkes Matthew Dothager Paul Lee Jeannette Wong David Xiong Han Yuan James E J Bedard Joshua F Machone Seantay D Patterson Amber L Price Bryce A Turner Srebrenka Robic Erin K Luippold Shannon R McCartha Tezin A Walji Chelsea A Walker Kenneth Saville Marita K Abrams Andrew R Armstrong William Armstrong Robert J Bailey Chelsea R Barberi Lauren R Beck Amanda L Blaker Christopher E Blunden Jordan P Brand Ethan J Brock Dana W Brooks Marie Brown Sarah C Butzler Eric M Clark Nicole B Clark Ashley A Collins Rebecca J Cotteleer Peterson R Cullimore Seth G Dawson Carter T Docking Sasha L Dorsett Grace A Dougherty Kaitlyn A Downey Andrew P Drake Erica K Earl Trevor G Floyd Joshua D Forsyth Jonathan D Foust Spencer L Franchi James F Geary Cynthia K Hanson Taylor S Harding Cameron B Harris Jonathan M Heckman Heather L Holderness Nicole A Howey Dontae A Jacobs Elizabeth S Jewell Maria Kaisler Elizabeth A Karaska James L Kehoe Hannah C Koaches Jessica Koehler Dana Koenig Alexander J Kujawski Jordan E Kus Jennifer A Lammers Rachel R Leads Emily C Leatherman Rachel N Lippert Gregory S Messenger Adam T Morrow Victoria Newcomb Haley J Plasman Stephanie J Potocny Michelle K Powers Rachel M Reem Jonathan P Rennhack Katherine R Reynolds Lyndsey A Reynolds Dong K Rhee Allyson B Rivard Adam J Ronk Meghan B Rooney Lainey S Rubin Luke R Salbert Rasleen K Saluja Taylor Schauder Allison R Schneiter Robert W Schulz Karl E Smith Sarah Spencer Bryant R Swanson Melissa A Tache Ashley A Tewilliager Amanda K Tilot Eve VanEck Matthew M Villerot Megan B Vylonis David T Watson Juliana A Wurzler Lauren M Wysocki Monica Yalamanchili Matthew A Zaborowicz Julia A Emerson Carlos Ortiz Frederic J Deuschle Lauren A DiLorenzo Katie L Goeller Christopher R Macchi Sarah E Muller Brittany D Pasierb Joseph E Sable Jessica M Tucci Marykathryn Tynon David A Dunbar Levent H Beken Alaina C Conturso Benjamin L Danner Gabriella A DeMichele Justin A Gonzales Maureen S Hammond Colleen V Kelley Elisabeth A Kelly Danielle Kulich Catherine M Mageeney Nikie L McCabe Alyssa M Newman Lindsay A Spaeder Richard A Tumminello Dennis Revie Jonathon M Benson Michael C Cristostomo Paolo A DaSilva Katherine S Harker Jenifer N Jarrell Luis A Jimenez Brandon M Katz William R Kennedy Kimberly S Kolibas Mark T LeBlanc Trung T Nguyen Daniel S Nicolas Melissa D Patao Shane M Patao Bryan J Rupley Bridget J Sessions Jennifer A Weaver Anya L Goodman Erica L Alvendia Shana M Baldassari Ashley S Brown Ian O Chase Maida Chen Scott Chiang Avery B Cromwell Ashley F Custer Tia M DiTommaso Jad El-Adaimi Nora C Goscinski Ryan A Grove Nestor Gutierrez Raechel S Harnoto Heather Hedeen Emily L Hong Barbara L Hopkins Vilma F Huerta Colin Khoshabian Kristin M LaForge Cassidy T Lee Benjamin M Lewis Anniken M Lydon Brian J Maniaci Ryan D Mitchell Elaine V Morlock William M Morris Priyanka Naik Nicole C Olson Jeannette M Osterloh Marcos A Perez Jonathan D Presley Matt J Randazzo Melanie K Regan Franca G Rossi Melanie A Smith Eugenia A Soliterman Ciani J Sparks Danny L Tran Tiffany Wan Anne A Welker Jeremy N Wong Aparna Sreenivasan Jim Youngblom Andrew Adams Justin Alldredge Ashley Bryant David Carranza Alyssa Cifelli Kevin Coulson Calise Debow Noelle Delacruz Charlene Emerson Cassandra Farrar Don Foret Edgar Garibay John Gooch Michelle Heslop Sukhjit Kaur Ambreen Khan Van Kim Travis Lamb Peter Lindbeck Gabi Lucas Elizabeth Macias Daniela Martiniuc Lissett Mayorga Joseph Medina Nelson Membreno Shady Messiah Lacey Neufeld San Francisco Nguyen Zachary Nichols George Odisho Daymon Peterson Laura Rodela Priscilla Rodriguez Vanessa Rodriguez Jorge Ruiz Will Sherrill Valeria Silva Jeri Sparks Geeta Statton Ashley Townsend Isabel Valdez Mary Waters Kyle Westphal Stacey Winkler Joannee Zumkehr Randall J DeJong Arlene J Hoogewerf Cheri M Ackerman Isaac O Armistead Lara Baatenburg Matthew J Borr Lindsay K Brouwer Brandon J Burkhart Kelsey T Bushhouse Lejla Cesko Tiffany Y Y Choi Heather Cohen Amanda M Damsteegt Jess M Darusz Cory M Dauphin Yelena P Davis Emily J Diekema Melissa Drewry Michelle E M Eisen Hayley M Faber Katherine J Faber Elizabeth Feenstra Isabella T Felzer-Kim Brandy L Hammond Jesse Hendriksma Milton R Herrold Julia A Hilbrands Emily J Howell Sarah A Jelgerhuis Timothy R Jelsema Benjamin K Johnson Kelly K Jones Anna Kim Ross D Kooienga Erika E Menyes Eric A Nollet Brittany E Plescher Lindsay Rios Jenny L Rose Allison J Schepers Geoff Scott Joshua R Smith Allison M Sterling Jenna C Tenney Chris Uitvlugt Rachel E VanDyken Marielle VanderVennen Samantha Vue Nighat P Kokan Kwabea Agbley Sampson K Boham Daniel Broomfield Kayla Chapman Ali Dobbe Ian Dobbe William Harrington Marwan Ibrahem Andre Kennedy Chad A Koplinsky Cassandra Kubricky Danielle Ladzekpo Claire Pattison Roman E Ramirez Lucia Wande Sarah Woehlke Matthew Wawersik Elizabeth Kiernan Jeffrey S Thompson Roxanne Banker Justina R Bartling Chinmoy I Bhatiya Anna L Boudoures Lena Christiansen Daniel S Fosselman Kristin M French Ishwar S Gill Jessen T Havill Jaelyn L Johnson Lauren J Keny John M Kerber Bethany M Klett Christina N Kufel Francis J May Jonathan P Mecoli Callie R Merry Lauren R Meyer Emily G Miller Gregory J Mullen Katherine C Palozola Jacob J Pfeil Jessica G Thomas Evan M Verbofsky Eric P Spana Anant Agarwalla Julia Chapman Ben Chlebina Insun Chong I N Falk John D Fitzgibbons Harrison Friedman Osagie Ighile Andrew J Kim Kristin A Knouse Faith Kung Danny Mammo Chun Leung Ng Vinayak S Nikam Diana Norton Philip Pham Jessica W Polk Shreya Prasad Helen Rankin Camille D Ratliff Victoria Scala Nicholas U Schwartz Jessica A Shuen Amy Xu Thomas Q Xu Yi Zhang Anne G Rosenwald Martin G Burg Stephanie J Adams Morgan Baker Bobbi Botsford Briana Brinkley Carter Brown Shadie Emiah Erica Enoch Chad Gier Alyson Greenwell Lindsay Hoogenboom Jordan E Matthews Mitchell McDonald Amanda Mercer Nicholaus Monsma Kristine Ostby Alen 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A Collado-Méndez Luis R Colón-Cruz Ana I Correa-Muller Jonathan L Crooke-Rosado José M Cruz-García Marianna Defendini-Ávila Francheska M Delgado-Peraza Alex J Feliciano-Cancela Valerie M Gónzalez-Pérez Wilfried Guiblet Aldo Heredia-Negrón Jennifer Hernández-Muñiz Lourdes N Irizarry-González Ángel L Laboy-Corales Gabriela A Llaurador-Caraballo Frances Marín-Maldonado Ulises Marrero-Llerena Héctor A Martell-Martínez Idaliz M Martínez-Traverso Kiara N Medina-Ortega Sonya G Méndez-Castellanos Krizia C Menéndez-Serrano Carol I Morales-Caraballo Saryleine Ortiz-DeChoudens Patricia Ortiz-Ortiz Hendrick Pagán-Torres Diana Pérez-Afanador Enid M Quintana-Torres Edwin G Ramírez-Aponte Carolina Riascos-Cuero Michelle S Rivera-Llovet Ingrid T Rivera-Pagán Ramón E Rivera-Vicéns Fabiola Robles-Juarbe Lorraine Rodríguez-Bonilla Brian O Rodríguez-Echevarría Priscila M Rodríguez-García Abneris E Rodríguez-Laboy Susana Rodríguez-Santiago Michael L Rojas-Vargas Eva N Rubio-Marrero Albeliz Santiago-Colón Jorge L Santiago-Ortiz Carlos E Santos-Ramos Joseline Serrano-González Alina M Tamayo-Figueroa Edna P Tascón-Peñaranda José L Torres-Castillo Nelson A Valentín-Feliciano Yashira M Valentín-Feliciano Nadyan M Vargas-Barreto Miguel Vélez-Vázquez Luis R Vilanova-Vélez Cristina Zambrana-Echevarría Christy MacKinnon Hui-Min Chung Chris Kay Anthony Pinto Olga R Kopp Joshua Burkhardt Chris Harward Robert Allen Pavan Bhat Jimmy Hsiang-Chun Chang York Chen Christopher Chesley Dara Cohn David DuPuis Michael Fasano Nicholas Fazzio Katherine Gavinski Heran Gebreyesus Thomas Giarla Marcus Gostelow Rachel Greenstein Hashini Gunasinghe Casey Hanson Amanda Hay Tao Jian He Katie Homa Ruth Howe Jeff Howenstein Henry Huang Aaditya Khatri Young Lu Kim Olivia Knowles Sarah Kong Rebecca Krock Matt Kroll Julia Kuhn Matthew Kwong Brandon Lee Ryan Lee Kevin Levine Yedda Li Bo Liu Lucy Liu Max Liu Adam Lousararian Jimmy Ma Allyson Mallya Charlie Manchee Joseph Marcus Stephen McDaniel Michelle L Miller Jerome M Molleston Cristina Montero Diez Patrick Ng Natalie Ngai Hien Nguyen Andrew Nylander Jason Pollack Suchita Rastogi Himabindu Reddy Nathaniel Regenold Jon Sarezky Michael Schultz Jien Shim Tara Skorupa Kenneth Smith Sarah J Spencer Priya Srikanth Gabriel Stancu Andrew P Stein Marshall Strother Lisa Sudmeier Mengyang Sun Varun Sundaram Noor Tazudeen Alan Tseng Albert Tzeng Rohit Venkat Sandeep Venkataram Leah Waldman Tracy Wang Hao Yang Jack Y Yu Yin Zheng Mary L Preuss Angelica Garcia Matt Juergens Robert W Morris Alexis A Nagengast Julie Azarewicz Thomas J Carr Nicole Chichearo Mike Colgan Megan Donegan Bob Gardner Nik Kolba Janice L Krumm Stacey Lytle Laurell MacMillian Mary Miller Andrew Montgomery Alysha Moretti Brittney Offenbacker Mike Polen John Toth John Woytanowski Lisa Kadlec Justin Crawford Mary L Spratt Ashley L Adams Brianna K Barnard Martin N Cheramie Anne M Eime Kathryn L Golden Allyson P Hawkins Jessica E Hill Jessica A Kampmeier Cody D Kern Emily E Magnuson Ashley R Miller Cody M Morrow Julia C Peairs Gentry L Pickett Sarah A Popelka Alexis J Scott Emily J Teepe Katie A TerMeer Carmen A Watchinski Lucas A Watson Rachel E Weber Kate A Woodard Daron C Barnard Isaac Appiah Michelle M Giddens Gerard P McNeil Adeola Adebayo Kate Bagaeva Justina Chinwong Chrystel Dol Eunice George Kirk Haltaufderhyde Joanna Haye Manpreet Kaur Max Semon Dmitri Serjanov Anika Toorie Christopher Wilson Nicole C Riddle Jeremy Buhler Elaine R Mardis Sarah C R Elgin

G3 (Bethesda) 2015 Mar 4;5(5):719-40. Epub 2015 Mar 4.

Department of Biology, Washington University in St. Louis, St. Louis, MO 63130

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March 2015

A central support system can facilitate implementation and sustainability of a Classroom-based Undergraduate Research Experience (CURE) in Genomics.

CBE Life Sci Educ 2014 ;13(4):711-23

Biology Department, Washington University in St. Louis, St. Louis, MO 63130.

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August 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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October 2014

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Am J Med Genet A 2014 Oct 10;164A(10):2529-34. Epub 2014 Jul 10.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

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October 2014

The dynamic proliferation of CanSINEs mirrors the complex evolution of Feliforms.

BMC Evol Biol 2014 Jun 20;14:137. Epub 2014 Jun 20.

Department of Biology, American University, 101 Hurst Hall 4440 Massachusetts Ave, Washington, DC 20016, USA.

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June 2014

Time-dependent propensity score for assessing the effect of vaccine exposure on pregnancy outcomes through pregnancy exposure cohort studies.

Int J Environ Res Public Health 2014 Mar 12;11(3):3074-85. Epub 2014 Mar 12.

Department of Family and Preventive Medicine, University of California, San Diego, 9500 Gilman Drive, MC 0112, La Jolla, CA 92093, USA.

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March 2014

A course-based research experience: how benefits change with increased investment in instructional time.

CBE Life Sci Educ 2014 ;13(1):111-30

Department of Biology, Washington University in St. Louis, St. Louis, MO 63130 Department of Computer Science and Engineering, Washington University in St. Louis, St. Louis, MO 63130 Department of Biological and Environmental Sciences, Longwood University, Farmville, VA 23909 Chemistry Department, Lindenwood University, St. Charles, MO 63301 Science Department, Cabrini College, Radnor, PA 19087 Department of Chemistry and Biochemistry, California Polytechnic State University, San Luis Obispo, CA 93405 Department of Biology, Linfield College, McMinnville, OR 97128 Department of Biology, Georgetown University, Washington, DC 20057 Biology Department, Hampden-Sydney College, Hampden-Sydney, VA 23943 Department of Biochemistry, University of Nebraska-Lincoln, Lincoln, NE 68588 Biology Department, Worcester State University, Worcester, MA 01602 Department of Biological Sciences, St. John's University, Queens, NY 11439 Department of Biology, Adams State University, Alamosa, CO 81101 Department of Computer Science & Engineering, Johnson C. Smith University, Charlotte, NC 28216 Department of Biology, Saint Joseph's University, Philadelphia, PA 19131 Departments of Biomedical Sciences & Cell and Molecular Biology, Grand Valley State, Allendale, MI 49401 Department of Biology, Saint Mary's College of California, Moraga, CA 94556 Department of Biology, University of West Florida, Pensacola, FL 32514 Technology Leadership & Innovation Department, Purdue University, West Lafayette, IN 47907 Department of Biology, Calvin College, Grand Rapids, MI 49546 Department of Biology, Hofstra University, Hempstead, NY 11549 Department of Biology & Molecular Biology, Montclair State University, Montclair, NJ 07043 Department of Biology, Missouri Western State University, St. Joseph, MO 64507 Department of Biology, University of the Cumberlands, Williamsburg, KY 40769 Department of Biology, Amherst College, Amherst, MA 01002 Department of Biological Sciences, Mount Holyoke, South Hadley, MA

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October 2014

Novel animal pole-enriched maternal mRNAs are preferentially expressed in neural ectoderm.

Dev Dyn 2014 Mar 21;243(3):478-96. Epub 2013 Dec 21.

Department of Biological Sciences, The George Washington University, Columbian College of Arts and Sciences, Washington, DC.

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March 2014

Risks and safety of pandemic H1N1 influenza vaccine in pregnancy: birth defects, spontaneous abortion, preterm delivery, and small for gestational age infants.

Vaccine 2013 Oct 7;31(44):5026-32. Epub 2013 Sep 7.

Department of Pediatrics, University of California San Diego, La Jolla, CA, United States; Rady Children's Hospital, San Diego, CA, United States; Department of Family and Preventive Medicine, University of California San Diego, La Jolla, CA, United States; Clinical Translational Research Institute, University of California San Diego, La Jolla, CA, United States; Vaccines and Medications in Pregnancy Surveillance System, United States. Electronic address:

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October 2013

Influenza vaccine safety in pregnancy: can we identify exposures?

Pharmacoepidemiol Drug Saf 2013 Jan 17;22(1):33-9. Epub 2012 Aug 17.

Slone Epidemiology Center at Boston University, Boston, MA 02115, USA.

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January 2013

Emerging data on the use of anti-tumor necrosis factor-alpha medications in pregnancy.

Birth Defects Res A Clin Mol Teratol 2012 Aug 11;94(8):607-11. Epub 2012 Jul 11.

Department of Pediatrics, Division of Dysmorphology and Teratology, University of California-San Diego, La Jolla, California, USA.

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August 2012

Outcome following high-dose methotrexate in pregnancies misdiagnosed as ectopic.

Am J Obstet Gynecol 2011 Dec 20;205(6):533.e1-3. Epub 2011 Jul 20.

Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

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December 2011

Carnivore-specific SINEs (Can-SINEs): distribution, evolution, and genomic impact.

J Hered 2011 Sep-Oct;102 Suppl 1:S2-10

Department of Biology, University of Pennsylvania, Philadelphia, PA, USA.

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December 2011

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Nat Genet 2011 Feb 27;43(4):350-5. Epub 2011 Feb 27.

Medical Research Council (MRC) Human Genetics Unit (HGU), Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.

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February 2011

In vivo magnetic resonance imaging to detect biliary excretion of 19F-labeled drug in mice.

Drug Metab Dispos 2011 May 26;39(5):736-9. Epub 2011 Jan 26.

Department of Medicine, Division of Gastroenterology and Hepatology, University of Maryland School of Medicine, 22 South Greene St., N3W62, Baltimore, MD 21201, USA.

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May 2011

IMAGe syndrome: Case report with a previously unreported feature and review of published literature.

Am J Med Genet A 2010 Dec;152A(12):3138-42

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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December 2010

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.

Clin Dysmorphol 2011 Jan;20(1):15-20

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000393PMC
January 2011

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Am J Med Genet A 2009 Aug;149A(8):1860-81

Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK.

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August 2009

Evolution of the GST omega gene family in 12 Drosophila species.

J Hered 2009 Nov-Dec;100(6):742-53. Epub 2009 Jul 16.

Department of Biological Sciences, The George Washington University, Washington, DC 20052, USA.

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March 2010

Fetal sex and maternal asthma control in pregnancy.

J Asthma 2008 Jun;45(5):403-7

Division of Pharmacy Practice and Department of Family/Community Medicine, University of New Mexico, Albuquerque, New Mexico, USA.

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June 2008

Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set.

Leg Med (Tokyo) 2007 Nov 5;9(6):293-304. Epub 2007 Jul 5.

Department of Legal Medicine, University of Granada, Madrid, Granada, Spain.

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November 2007

Safety of leukotriene receptor antagonists in pregnancy.

J Allergy Clin Immunol 2007 Mar;119(3):618-25

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA.

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March 2007

Asthma medication use in pregnancy and fetal growth.

J Allergy Clin Immunol 2005 Sep;116(3):503-9

Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.

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September 2005

Tobacco-specific nitrosamines in tobacco from U.S. brand and non-U.S. brand cigarettes.

Nicotine Tob Res 2003 Jun;5(3):323-31

Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA, USA.

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June 2003

Organization of carboxysome genes in the thiobacilli.

Curr Microbiol 2003 Feb;46(2):115-9

Department of Chemistry and Biochemistry, The University of Southern Mississippi, Hattiesburg, MS 39406-5043, USA.

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February 2003

Two Copies of form I RuBisCO genes in Acidithiobacillus ferrooxidans ATCC 23270.

Curr Microbiol 2002 Aug;45(2):115-7

Department of Chemistry and Biochemistry, The University of Southern Mississippi, Hattiesburg, MS 39406-5043, USA.

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August 2002

Monitoring leflunomide (Arava) as a new potential teratogen.

Teratology 2002 May;65(5):200-2

Department of Pediatrics, Division of Dysmorphology and Teratology, University of California, San Diego, La Jolla 92093, USA.

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May 2002

GENETIC DIFFERENTIATION IN THE DROSOPHILA ATHABASCA COMPLEX.

Evolution 1985 Mar;39(2):467-472

Department of Biological Sciences, The George Washington University, Washington, DC, 20052.

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March 1985

GENETIC DIFFERENTIATION IN TWO MEMBERS OF THE DROSOPHILA ATHABASCA COMPLEX.

Evolution 1978 Dec;32(4):798-811

Department of Biology, University of Chicago, 1103 East 57th Street, Chicago, Illinois, 60637.

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December 1978