74 research outputs found
Postoperative imaging surveillance and endoleak management after endovascular repair of thoracic aortic aneurysms
- Publication venue
- The Society for Vascular Surgery. Published by Elsevier Inc.
- Publication date
- 28/02/2006
- Field of study
Measurement of the inclusive isolated-photon cross section in pp collisions at √s = 13 TeV using 36 fb−1 of ATLAS data
- Author
- Aad G.
- Abbott B.
- Abbott D. C.
- Abdinov O.
- Abed Abud A.
- Abeling K.
- Abhayasinghe D. K.
- Abidi S. H.
- AbouZeid O. S.
- Abraham N. L.
- Abramowicz H.
- Abreu H.
- Abulaiti Y.
- Acharya B. S.
- Achkar B.
- Adachi S.
- Adam Bourdarios C.
- Adam L.
- Adamczyk L.
- Adamek L.
- Adelman J.
- Adersberger M.
- Adiguzel A.
- Adorni S.
- Adye T.
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- Ahmed W. S.
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- Aielli G.
- Akatsuka S.
- Akilli E.
- Akimov A. V.
- Al Khoury K.
- Alberghi G. L.
- Albert J.
- Alconada Verzini M. J.
- Alderweireldt S.
- Aleksa M.
- Aleksandrov I. N.
- Alexa C.
- Alexandre D.
- Alexopoulos T.
- Alfonsi A.
- Alhroob M.
- Ali B.
- Alimonti G.
- Alison J.
- Alkire S. P.
- Allaire C.
- Allbrooke B. M. M.
- Allen B. W.
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- Alonso A.
- Alonso F.
- Alpigiani C.
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- Alvarez Estevez M.
- Alviggi M. G.
- Amaral Coutinho Y.
- Ambler A.
- Ambroz L.
- Amelung C.
- Amidei D.
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- An F.
- Anastopoulos C.
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- Andeen T.
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- Andrei V.
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- Angelidakis S.
- Angerami A.
- Anisenkov A. V.
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- Živković L.
- Publication venue
- Institute of Physics Publishing
- Publication date
- 01/01/2019
- Field of study
The differential cross section for isolated-photon production in pp collisions is measured at a centre-of-mass energy of 13 TeV with the ATLAS detector at the LHC using an integrated luminosity of 36.1 fb. The differential cross section is presented as a function of the photon transverse energy in different regions of photon pseudorapidity. The differential cross section as a function of the absolute value of the photon pseudorapidity is also presented in different regions of photon transverse energy. Next-to-leading-order QCD calculations from Jetphox and Sherpa as well as next-to-next-to-leading-order QCD calculations from Nnlojet are compared with the measurement, using several parameterisations of the proton parton distribution functions. The predictions provide a good description of the data within the experimental and theoretical uncertainties. [Figure not available: see fulltext.
Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility
- Author
- Adu Aderonke
- Ahmad Yasmeen
- Ahmad Yasmeen
- Akil Mohammed
- Alavi A.
- Alten Rieke
- Alten Rieke
- Alten Rieke
- Ang Andrea
- Arendt C.
- Arthanari S.
- Arthanari S.
- Askari Ayman
- Atchia Ismael
- Axford J.
- Aynsley Sarah
- Aynsley Sarah
- Baker Daniel
- Bakshi Jyoti
- Bakshi Jyoti
- Balint Peter
- Baskar Sangeetha
- Batra Rajbir
- Becerra Elena
- Bell Aubrey
- Bennett B.
- Bensen William
- Benson Claire
- Berenbaum F.
- Bernasconi Corrado
- Berner Hammer Hilde
- Bharadwaj Anurag
- Bingham Clifton O.
- Bombardieri Michele
- Bombardieri Michele
- Borukhson Liubov
- Bosworth Ailsa
- Boumpas Dimitrios
- Bowman S.
- Bruce Ellen
- Bruce Ellen
- Bruce Ian
- Buckley Christopher
- Buckley Christopher
- Buckley Christopher
- Buckley Felicity
- Bukhari Marwan
- Burkhardt H.
- Burmester Gerd R.
- Burmester Gerd R.
- Bykerk V.
- Cairns Andrew
- Cambridge Geraldine
- Carpenter Lewis
- Carpenter Lewis
- Carruthers David
- Carruthers David
- Cartwright Alison
- Cavet Guy
- Chalam Venkat C.
- Chan Angela Marie L.
- Chan Antoni
- Chan Esther
- Chan Esther
- Chana Jasroop
- Chandratre Priyanka N.
- Chartier Melanie
- Chhabara Monica
- Chipping Jacqueline
- Christie Jennifer D.
- Churchill Duncan
- Clarke Shane
- Clarson Lorna
- Clowse M.
- Collins David
- Congreve Carron
- Conway Katie
- Cooper Cyrus
- Cope Andrew
- Cope Andrew
- Cope Andrew
- Cornell Patricia
- Cox Maureen
- Croft Adam P.
- Croot Lorraine
- Cumming Jo
- Cush J.
- D'Agostino Maria A.
- D'Cruz David
- Dadoun Sabrina
- Dahanayake Chanaka
- Dahanayake Chanaka
- Das Sudipto
- Davari Ejtehadi Hora
- Davies Emma J.
- Davies O.
- Davies O.
- Davies Rebecca
- Dawes Peter
- Dawson Julie
- Dawson Julie
- De La Torre Inmaculada
- de Longueville M.
- De Pablo Paola
- de Pablo Paola
- de-Soyza Anthony
- Dean Gillian
- Deeming Alison
- Dejonckheere Fred
- Dejonckheere Fred
- Delaet Ingrid
- Desanti Guillaume
- Devenport Jenny
- Dharmapalaiah Chethana
- Di Cicco Maria
- Diamantopoulos Alex
- Disney Benjamin
- Dixey Josh
- Dixey Josh
- Dixon Will
- Dixon Will
- Dixon William G.
- Dixon William G.
- Dobson Joanne
- Douglas Barbara
- Doyle Mittie
- Dubash Sayam
- Durez Patrick
- Eggleton Paul
- Ehrenstein Michael
- El Haj Alicia
- Ellerby Nicholas
- Emerling Daniel
- Emery Paul
- Emery Paul
- Emery Paul
- Faizal Abdul
- Farrar Wendy
- Fearon Ursula
- Ferraccioli G.
- Ffolkes Lorrette
- Filer Andrew
- Filippucci Emilio
- Filter Andrew
- Finckh Axel
- Fisher Benjamin
- Fleischmann Roy
- Fleischmann Roy
- Fleischmann Roy
- Fleischmann Roy
- Ford Kerri
- Fossati G.
- Freimanis G.
- Furst Daniel E.
- Gabriel Carolyn
- Gaillez Corine
- Galeazzi Mauro
- Galeazzi Mauro
- Galloway James
- Galloway James
- Garg Nidhi
- Gayed Mary
- Gee Andrew H.
- Gendi Nagui
- Genovese Mark
- Genovese Mark
- Genovese Mark
- Gibbons Carl
- Gibson Kellie
- Goff Iain
- Golla Janardhana
- Gomez-Reino Juan J.
- Gray Leanne
- Grindulis Karl
- Grove Matthew
- Hall Frances C.
- Hamilton Jennifer
- Han Chenglong
- Hands Rebecca
- Hardie Debbie
- Hardy Jacob
- Harland Dave
- Harris Helen E.
- Hart Jennifer C.
- Hassan Nada
- Hassan Sadon
- Hawtree Sarah
- Healy L.
- Helliwell Philip
- Heritage Caroline
- Hewitt Jamie
- Heycock Carol
- Hider Samantha
- Hider Samantha L.
- Hofmann Darija
- Holder Susan
- Hooley P.
- Hotopf Matthew
- Hsia Elizabeth C.
- Huertas Catherine
- Huizinga Tom W.
- Hull Richard
- Humby Frances
- Humphreys Jennifer
- Humphreys Jennifer
- Hunter John
- Hutchinson David
- Hutchinson David
- Hyrich Kimme
- Hyrich Kimme
- Hyrich Kimme
- Hyrich Kimme L.
- Iagnocco Annamaria
- Ibrahim Fowzia
- Isenberg David
- Jansen Jeroen P.
- Jaurez Maria
- Javaid Muhammad K.
- Jayakumar Keeranur
- Jobanputra Paresh
- Johnson Simon
- Johnston Graeme
- Jones Graeme
- Jones Peter
- Judge Andrew
- Jury Elizabeth
- Kaine Jeffrey
- Karjigi Uma
- Karppinen Jaro
- Kary Sonja
- Kaur Jaspreet
- Kaur Ladbans
- Keay Fiona
- Kehoe Oksana
- Kelly Clive
- Kelly Clive
- Kelly Clive
- Kelly Clive
- Kelly Sheila
- Kelly Stephen
- Kerselaers Wendy
- Keystone Edward C.
- Khan Afsha
- Khanna Dinesh
- Kidd Bruce
- Kiely Patrick
- Kiely Patrick
- Kilding Rachael
- Kim Lilianne
- Kinderlerer Anne R.
- Kinderlerer Anne R.
- Kingsley Gabrielle
- Kingsley Gabrielle H.
- Kingsley Gabrielle H.
- Kinnear William
- Kirwan John R.
- Kitas George D.
- Kitas George D.
- Koduri Gouri
- Koduri Gouri
- Koetse W.
- Kosutic G.
- Koutedakis Yiannis
- Kremer Joel M.
- Krishan Pawan
- Krutikov Maria
- Kupper Hartmut
- Lanyon Peter
- Lazarus Mark N.
- Lazarus Mark N.
- Le Bars Manuela
- Le Bars Manuela
- Leandro Maria J.
- Lempp Heidi
- Lepley Denise
- Li Wanying
- Lieberman Abigail
- Litwic Anna E.
- Lorenz Hannes M.
- Lorenzi Alice
- Low Audrey
- Low Audrey
- Low Audrey
- Lu Jiandong
- Luijtens K.
- Luijtens K.
- Lunt Mark
- Lunt Mark
- Lunt Mark
- Lunt Mark
- Lunt Mark
- Ma Margaret H.
- Ma Margaret H.
- Ma Margaret H.
- Maatta Juhani
- Maciver Helen
- Maciver Helen
- Mack Michael
- Mackenzie-Green Bronwen
- Maclaren Zoe
- Maggs Fiona
- Mahadevan U.
- Mahendran Prini
- Maldonado Michael
- Maldonado Michael A.
- Malik Saadia P.
- Mallen Christian
- Marguerie Christopher
- Mariette X.
- Mark Wilkinson J.
- Marshall Robert W.
- Marshall Tarnya
- Marshall Tarnya
- Matcham Faith
- Mattey Derek L.
- Matucci-Cerinic Marco
- McCrae Fiona
- McCrae Fiona
- McFadyen Charles
- McHenry Michelle
- Mehta Puja
- Mendelsohn Alan
- Mercer Louise
- Mercer Louise
- Mercer Louise
- Mercieca Cecilia
- Metsios George
- Metsios George
- Middleton Jim
- Moller Ingrid
- Molloy Cauline
- Moore Samantha
- Morrison Elaine
- Moullaali Thomas
- Movahedi Mohammad
- Mpofu Chiedzo
- Mukherjee Sandeep
- Mulherin Diarmuid
- Muller-Ladner Ulf
- Muthana Munitta
- Muthana Munitta
- Nadesalingam Kavitha
- Nandagudi Anupama
- Nandagudi Anupama
- Narayan Nehal
- Naredo Esperanza
- Nash Peter
- Navarro-Blasco Francisco
- Naylor Amy
- Nelson P. N.
- Nesbitt A.
- Neumann Elena
- Nevill A.
- Ng Nora
- Nightingale Peter
- Nikiphorou Elena
- Nikiphorou Elena
- Nikiphorou Elena
- Nisar Mohamed
- Nisar Mohamed
- Nuki George
- Nurmohamed Michael T.
- Nusslein Hubert
- O'Brien Anne
- O'Dowd Emma
- Ostergaard Mikkel
- Ostlere Lucy
- Ottery Faith D.
- Packham Jonathan
- Pang Hok
- Patel Priya
- Patel Salil
- Patel Sanjeev
- Paul Anupam
- Pavelka Karel
- Pendleton Adrian
- Penn Henry
- Perry Elizabeth
- Peter Hans-Hartmut
- Pitts Laura
- Pitzalis Costantino
- Pitzalis Costantino
- Platt Phil
- Platt Philip N.
- Poncet Coralie
- Poole Kenneth E.
- Poore Sophie
- Pratt Arthur
- Price Elizabeth
- Price Tom
- Prouse Peter J.
- Pugh Mark
- Pyne Dev
- Quin John
- Raftery Graham
- Rahmeh Fouz
- Rainer Franz
- Rajagopal Vivek
- Ramachandran Nair Jagdish
- Rauch Christiane
- Ravindran Vinod
- Ray David W.
- Rayner Lauren
- Raza Karim
- Reddy Venkat
- Rees Frances
- Reynolds Gary
- Reynolds Timothy D.
- Richards Selwyn
- Richardson Jane
- Riches Philip
- Robinson Helena
- Rocher Vidalba
- Roddy Edward
- Roden D.
- Roncaroli Frederico
- Rose Diana
- Round Gemma
- Roy Matthew
- Rubbert-Roth Andrea
- Rylance P. B.
- Rynne Martin
- Samarawickrama Amanda
- Samborski W.
- Samson Kay
- Sandoo Aamer
- Saravanan Vadivelu
- Sargeant Ify
- Sasso Eric H.
- Sathi Nav
- Sathi Nav
- Scali Juan J.
- Schiff Michael
- Schiff Michael H.
- Scott David L.
- Scott David L.
- Scott David L.
- Scott David L.
- Scott David L.
- Scott Ian C.
- Scott Ian C.
- Scott Ian C.
- Scott Nicola
- Sebba Anthony
- Sebba Anthony
- Seth Rakhi
- Shah Preeti
- Sharif Mohammed I.
- Shaw M.
- Sheeran Tom
- Shingler Wendy
- Shingler Wendy
- Simpson Carol
- Singh Animesh
- Singh Deepwant
- Singhal Saket
- Skaparis Yiannis
- Skibinska Malgorzata
- Smart Devi
- Smolen Josef
- Smolen Josef
- Sokoll Katharina
- Solymossy Csilla
- Stach C.
- Stannett Peter
- Stavropoulos Kalinoglou Antonios
- Stavropoulos-Kalinoglou Antonios
- Steer Sophia
- Stevens Richard
- Stone Millicent A.
- Symmons Deborah
- Symmons Deborah
- Symmons Deborah
- Symmons Deborah
- Symmons Deborah P.
- Syngle Ashit
- Taggart Allister
- Taylor Peter
- Telfer Scott
- Terpstra I.
- Thompson Ben
- Thompson Paul W.
- Thompson Robert N.
- Thomson Janet
- Tierney Ann
- Treece Graham M.
- Tugnet N.
- Turmezei Thomas D.
- Tweedie Fiona
- Unnebrink Kristina
- Vagadia Vipul
- van der Heijde Desiree
- Van Holder Karina
- van Vollenhoven Ronald F.
- van Vollenhoven Ronald F.
- Veale Douglas
- Veitch A. M.
- Veldhuijzen van Zanten Jet J.
- Veldhuijzen van Zanten Jet J.
- Verma Inderjeet
- Vernon Emma
- Verstappen Suzanne
- Verstappen Suzanne M.
- Vincent Tonia
- Vital Edward M.
- Vittecoq Olivier
- Vohra Kanchan
- Wakefield Richard
- Walker-Bone Karen E.
- Walsh David
- Walsh Maeve
- Ward Lorna
- Warner Alexander J.
- Watson Kath
- Watson Kath D.
- Wearn Koh Li
- Weinblatt Michael E.
- Weinblatt Michael E.
- Weinblatt Michael E.
- Weinblatt Michael E.
- Wernham Aaron
- Westhovens Rene
- Westlake Sarah L.
- White Marie
- Wig Surabhi
- Williams Debbie
- Williams Francis
- Williams Peter
- Williams S.
- Williamson Lyn
- Wilson Anthony G.
- Wilson Gerry
- Wilson Hilary
- Wolber Lisa
- Wolf D.
- Wolfson Marsha
- Woodburn James
- Woodhead Felix A.
- Woodhead Felix A.
- Woon Kam Ngar
- Worsnop Fiona
- Wray Maria
- Wright Gary
- Wykes Til
- Yood Robert
- Young Adam
- Young Adam
- Young Adam
- Young Adam
- Zimmermann Birgit
- Publication venue
- Publication date
- 02/08/2017
- Field of study
Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
- Author
- Aarnoud Huissoon
- Abigail Furnell
- Adrian Thrasher
- Alan Greenhalgh
- Alasdair Parker
- Alba Sanchis-Juan
- Alba Sanchis-Juan
- Alex Richter
- Alice Gardham
- Allan Lawrie
- Aman Sohal
- Amanda Creaser-Myers
- Amy Frary
- Andreas Greinacher
- Andrew Mumford
- Andrew Peacock
- Andrew Webster
- Andrew R. Webster
- Angela F. Brady
- Angie Brady
- Ania Koziell
- Ania Manson
- Anita Chandra
- Anke Hensiek
- Anna Maw
- Anne M. Kelly
- Anthony Moore
- Anthony T. Moore
- Anton Vonk Noordegraaf
- Antony Attwood
- Archana Herwadkar
- Arno
- Auton
- Ba-Abbad
- Beaulieu
- Belkadi
- Benjamini
- Berger
- Braun
- Bruce Furie
- Carmen Treacy
- Carolyn M. Millar
- Carrock Sewell
- Catherine Roughley
- Catherine Titterton
- Catherine Williamson
- Charaka Hadinnapola
- Charu Deshpande
- Chen
- Cheng
- Cheng-Hock Toh
- Chiang
- Chiara Bacchelli
- Chilamakuri
- Chris Patch
- Chris Van Geet
- Christine Bryson
- Christopher J. Penkett
- Christopher J. Rhodes
- Christopher Penkett
- Claire Bethune
- Claire Booth
- Claire Lentaigne
- Coleen McJannet
- Colin Church
- Consugar
- Crina Samarghitean
- Csaba Halmagyi
- Daniel Gale
- Daniel Greene
- Daniel Hart
- David Allsup
- David Bennett
- David Edgar
- David J. Perry
- David Keeling
- David Kiely
- Debbie Shipley
- Deborah Whitehorn
- Debra Fletcher
- Deepa Krishnakumar
- den Hollander
- Desmet
- Detelina Grozeva
- Detelina Grozeva
- Dinakantha Kumararatne
- Dorothy A. Thompson
- Dorothy Thompson
- Dragana Josifova
- Dragana Josifova
- Eamonn Maher
- Eisenberger
- Elaine Murphy
- Elaine Murphy
- Eleanor Dewhurst
- Eleanor Dewhurst
- Elisabeth Rosser
- Elisabeth Rosser
- Elizabeth Chalmers
- Elizabeth Drewe
- Elizabeth McDermott
- Ellen Thomas
- Ellingford
- Ellingford
- Emily Staples
- Emma Clement
- Emma Clement
- Emma Wakeling
- Emma Wakeling
- Eric Oksenhendler
- Ernest Turro
- Evan Reid
- Evangeline Wassmer
- F. Lucy Raymond
- F. Lucy Raymond
- Fengyuan Hu
- Fiona Kennedy
- Fitzgerald
- Frances Flinter
- Gary Polwarth
- Gautum Ambegaonkar
- Gavin Arno
- Gavin Arno
- Genevieve Wright
- Geoffrey Woods
- Gerry Coghlan
- Gilissen
- Grant Hayman
- Gururaj Arumugakani
- Hana Alachkar
- Hana Lango Allen
- Hans Stauss
- Harald Schulze
- Harm Boggard
- Helen Baxendale
- Helen Firth
- Henderson
- Hilary Longhurst
- Hoischen
- Huang
- Hugh S. Markus
- Hugh Watkins
- Hull
- Ilenia Simeoni
- Irene Roberts
- Isabella Quinti
- Ivy Wanjiku
- James C. Fox
- James Thaventhiran
- Jane Hurst
- Jane Hurst
- Jay Suntharalingam
- Jeanette Payne
- Jecko Thachil
- Jennifer Martin
- Jenny Carmichael
- Jenny Carmichael
- Jesmeen Maimaris
- Joan Paterson
- Joan Paterson
- Joanna Pepke-Zaba
- Johan W.M. Heemskerk
- John Davis
- John Pasi
- John R. Bradley
- John Wharton
- John Wort
- Jonathan Stephens
- Jonathan Stephens
- Julia Rankin
- Julie Anderson
- Julie Vogt
- Julie von Ziegenweldt
- Karola Rehnstrom
- Karyn Megy
- Karyn Megy
- Kate Talks
- Kathelijne Peerlinck
- Kathleen Freson
- Kathleen Stirrups
- Kathleen Stirrups
- Keith Gomez
- Kenneth Smith
- Keren Carss
- Keren J. Carss
- Kevin Rue-Albrecht
- Khan
- Kimberley Gilmour
- Kircher
- Larahmie Masati
- Laura Southgate
- Lek
- Lelieveld
- Liew
- Lisa Devlin
- Lisa Willcocks
- Lorena Lorenzo
- Louise Allen
- Louise Allen
- Louise Daugherty
- Manali Chitre
- Manali Chitre
- Manju Kurian
- Marc Humbert
- Marc Tischkowitz
- Maria Bitner-Glindzicz
- Maria Bitner-Glindzicz
- Marie Erwood
- Marie Erwood
- Marie Scully
- Marijke Veltman
- Mark Caulfield
- Mark Ponsford
- Mark Toshner
- Marta Bleda
- Martin Wilkins
- Mary Mathias
- Matthew Brown
- Matthew Rondina
- Matthias Haimel
- Mayer
- McRae
- Melissa Lees
- Michael A. Laffan
- Michael Browning
- Michael Gattens
- Michael Richards
- Michel Michaelides
- Michel Michaelides
- Michele P. Lambert
- Minka De Vries
- Moira Thomas
- Muriel Holder
- Naomi Clements-Brod
- Natalie Canham
- Natalie Dormand
- Nathalie Kingston
- Neeti Ghali
- Nichola Cooper
- Nicholas Morrell
- Nigel Yeatman
- Olga Shamardina
- O’Sullivan
- Paquita Nurden
- Patel
- Patrick Chinnery
- Patrick Deegan
- Patrick Yong
- Patwardhan
- Paul Calleja
- Paul Gissen
- Paula Bolton-Maggs
- Pavandeep K. Ghataorhe
- Pavel Gordins
- Penelope Stein
- Peter Collins
- Peter Kelleher
- Ping Yu
- Purcell
- Pusch
- R. Campbell Tait
- Rachel Linger
- Rainer Doffinger
- Rajiv Machado
- Rashid Kazmi
- Ravishankar Sargur
- Reese
- Remi Favier
- Ri Liesner
- Richard Antrobus
- Richard H. Scott
- Richard Sandford
- Richard Scott
- Richard Trembath
- Rob Mackenzie
- Robert E. MacLaren
- Robert H.H. Henderson
- Robert Henderson
- Robert MacLaren
- Roberta Rizzo
- Roger James
- Rohit Ghurye
- Rosa DaCosta
- Rosie Hague
- Rutendo Mapeta
- Ruth Armstrong
- Ruth Armstrong
- Sadia Noorani
- Sai Murng
- Saikat Santra
- Salih Tuna
- Samantha Malka
- Sangermano
- Sara Lear
- Sarah Goddard
- Sarah Hull
- Sarah Mangles
- Sarah Westbury
- Sarju Mehta
- Scott Hackett
- Sergey Nejentsev
- Shahin Moledina
- Shahnaz Bibi
- Sharon Meehan
- Simon Gibbs
- Simon Holden
- Simon Staines
- Sinisa Savic
- Siobhan Burns
- Sofia Grigoriadou
- Sofia Papadia
- Sofie Ashford
- Sol Schulman
- Sonia Ali
- Soo-Mi Park
- Sophie Davies
- Sophie Stock
- Sri V.V. Deevi
- Stavropoulos
- Stefan Gräf
- Stenson
- Stephen Jolles
- Steve Austin
- Steve Welch
- Stuart Meacham
- Stuart Rankin
- Suranjith Seneviratne
- Susan Holder
- Suthesh Sivapalaratnam
- Sylvia Richardson
- Taco W. Kuijpers
- Tadbir K. Bariana
- Tamam Bakchoul
- Tamara Everington
- Thorvaldsdóttir
- Tim Young
- Timothy Aitman
- Timothy Q. Warner
- Tiwari
- Tracey Hammerton
- Turner
- Vaché
- Val Pollock
- van den Hurk
- Vera Matser
- Vincent Plagnol
- Virginia Clowes
- Walter
- Waseem Qasim
- Wendy N. Erber
- Westbury
- Willem H. Ouwehand
- Willem H. Ouwehand
- William Astle
- William Egner
- Wojciech Turek
- Wright
- Yang
- Yang
- Yvonne Henskens
- Yvonne Tan
- Zarrei
- Publication venue
- American Journal of Human Genetics
- Publication date
- 29/12/2016
- Field of study
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
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- Lowenstein Michael G.
- Lowry Stephen
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- Mehta Nalini
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- Munidasa Mala
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- Murayama Yuji
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- Naka Maho
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- Nakamura Etsuko
- Nakato Eriko
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- Nandkeshwar Richard
- Nankervis Colin E.
- Naranjo Cleo M.
- Nash William
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- Nazareth Lynne V.
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- Nwokenkwo Stanley
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- O\u27Loughlin Jennifer
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- Okumura Reina
- Okwuonu Geoffrey O.
- Okwuonu Kenneth C.
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- Olivas Jason
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- Olsen Anne S.
- Olson Maynard V.
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- Ow David
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- Paul Shelia
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- Pennacchio Len A.
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- Percy Chantel
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- Perez Lesette M.
- Perito Andrew
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- Quiles Miyo M.
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- Ridler Kerry
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- Riley B.E
- Rise Cecil
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- Robert Catherine
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- Robinson Donna L.
- Robinson Melanie
- Rochford Rebecca
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- Rong Li
- Rong Li
- Rosenbloom Kate R.
- Roskin Krishna M.
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- Sasaki Takashi
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- Saurin William
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- Saxman Eric
- Scarpelli Claude
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- Schatzkamer Kyriena L.
- Scherer Steven Edward
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- Sonnhammer Erik
- Sonnhammer Erik
- Sorelle Richard P.
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- Sutherland Robert D.
- Sutton Angelica E.
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- Tian Chaoguang
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- Tong Jingli
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- Tracey Alan
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- Ukegbu Ogechi Nkemdirim
- Ulanovsky Levy E.
- Un Chun
- Ung Quyen
- Upson Darren
- Urban Jeremy B.
- Ureta-Vidal Abel
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- Usmani Kamran
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- Uyama Nozomi
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- Vassiliev Helen
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- Viknaraja Ramya
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- Vine Wendy
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- Wagner-McPherson Caryn
- Waldron Lenee
- Waligorski Jason E.
- Walker Davian L.
- Walker Keya
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- Wan Ma
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- Wang Ying
- Wang Ying
- Wang Yuanyuan
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- Wangdi Tsering
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- Warren Graham
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- Warry Georgina
- Watanabe Hidemi
- Watanabe Saki
- Waterston Robert H.
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- Wickremasinghe Manosha I.
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- Wilkinson Jane
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- Wood Emma
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- Wooden Hailey S.
- Wooden Steven H.
- Woodeson Sharon
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- Wray Paul
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- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
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- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
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- Xiong Yuqing
- Xu Alex
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- Xu Jing
- Xu Ruqin
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- Xu Yuning
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- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
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- Yamamoto Yuko
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- Yang Huanming
- Yang Huanming
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- Yao Zhijian
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- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
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- Author
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- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- Aboulhorma A
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- Zagazeta LF Gutierrez
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- Zhemchugov A
- Zheng Z
- Zhong D
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- Zieminska D
- Zimine NI
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- Zormpa O
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- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 03/02/2022
- Field of study
This paper presents the measurement of the electroweak production of two jets
in association with a Zγ pair with the Z boson decaying into two
neutrinos. It also presents the search for invisible or partially invisible
decays of a Higgs boson with a mass of 125 GeV produced through vector-boson
fusion with a photon in the final state. These results use data from LHC
proton-proton collisions at s = 13 TeV collected with the ATLAS
detector corresponding to an integrated luminosity of 139 fb−1. The event
signature, shared by all benchmark processes considered for measurements and
searches, is characterized by a significant amount of unbalanced transverse
momentum and a photon in the final state, in addition to a pair of forward
jets. For electroweak production of Zγ in association with two jets, the
background-only hypothesis is rejected with an observed (expected) significance
of 5.2 (5.1) standard deviations. The measured fiducial cross-section for this
process is 1.31±0.29 fb. Observed (expected) upper limit of 0.37 (0.34) at
95% confidence level is set on the branching ratio of a 125 GeV Higgs boson to
invisible particles, assuming the Standard Model production cross-section. The
signature is also interpreted in the context of decays of a Higgs boson to a
photon and a dark photon. An observed (expected) 95% CL upper limit on the
branching ratio for this decay is set at 0.018 (0.017), assuming the 125 GeV
Standard Model Higgs boson production cross-section
Recommended from our members
The ATLAS inner detector trigger performance in pp collisions at 13 TeV during LHC Run 2
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- AbouZeid OS
- Abraham NL
- Abramowicz H
- Abreu H
- Abud A Abed
- Abulaiti Y
- Acharya BS
- Achkar B
- Adam L
- Adamczyk L
- Adamek L
- Adelman J
- Adiguzel A
- Adorni S
- Adye T
- Affolder AA
- Afik Y
- Agapopoulou C
- Agaras MN
- Aggarwal A
- Agheorghiesei C
- Aguilar-Saavedra JA
- Agullo P Martinez
- Ahmad A
- Ahmadov F
- Ahmed WS
- Ahnen J Von
- Ai X
- Aielli G
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- Akesson TPA
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- Akimov AV
- Alberghi GL
- Albert J
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- Aleksa M
- Aleksandrov IN
- Alexa C
- Alexopoulos T
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- Alfonsi F
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- Ye H
- Ye J
- Ye S
- Yeletskikh I
- Yexley MR
- Yildiz H Duran
- Yin P
- Yorita K
- Yoshihara K
- Young C
- Young CJS
- Yuan R
- Yue X
- Zaazoua M
- Zabinski B
- Zacharis G
- Zaffaroni E
- Zagazeta LF Gutierrez
- Zaitsev AM
- Zakareishvili T
- Zakharchuk N
- Zambito S
- Zanzi D
- Zeissner SV
- Zeitnitz C
- Zemaityte G
- Zeng JC
- Zenin O
- Zenis T
- Zenz S
- Zerradi S
- Zerwas D
- Zgubic M
- Zhang B
- Zhang DF
- Zhang G
- Zhang J
- Zhang K
- Zhang L
- Zhang L
- Zhang M
- Zhang R
- Zhang S
- Zhang X
- Zhang X
- Zhang Y
- Zhang Z
- Zhao P
- Zhao Y
- Zhao Z
- Zhemchugov A
- Zheng Z
- Zhong D
- Zhou B
- Zhou C
- Zhou H
- Zhou M
- Zhou N
- Zhou Y
- Zhu C
- Zhu CG
- Zhu H
- Zhu HL
- Zhu J
- Zhu Y
- Zhuang X
- Zhukov K
- Zhulanov V
- Zieminska D
- Zimine NI
- Zimmermann S
- Zinonos Z
- Ziolkowski M
- Zivkovic L
- Zoccoli A
- Zoch K
- Zorbas TG
- Zou R
- Zou W
- Zwalinski L
- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 08/03/2022
- Field of study
The design and performance of the inner detector trigger for the high level
trigger of the ATLAS experiment at the Large Hadron Collider during the 2016-18
data taking period is discussed. In 2016, 2017, and 2018 the ATLAS detector
recorded 35.6 fb−1, 46.9 fb−1, and 60.6 fb−1 respectively of
proton-proton collision data at a centre-of-mass energy of 13 TeV. In order to
deal with the very high interaction multiplicities per bunch crossing expected
with the 13 TeV collisions the inner detector trigger was redesigned during the
long shutdown of the Large Hadron Collider from 2013 until 2015. An overview of
these developments is provided and the performance of the tracking in the
trigger for the muon, electron, tau and b-jet signatures is discussed. The
high performance of the inner detector trigger with these extreme interaction
multiplicities demonstrates how the inner detector tracking continues to lie at
the heart of the trigger performance and is essential in enabling the ATLAS
physics programme
The ATLAS inner detector trigger performance in pp collisions at 13 TeV during LHC Run 2
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- AbouZeid OS
- Abraham NL
- Abramowicz H
- Abreu H
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- Abulaiti Y
- Acharya BS
- Achkar B
- Adam L
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- Adamek L
- Adelman J
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- Adye T
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- Afik Y
- Agapopoulou C
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- Agullo P Martinez
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- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 01/01/2022
- Field of study
The design and performance of the inner detector trigger for the high level
trigger of the ATLAS experiment at the Large Hadron Collider during the 2016-18
data taking period is discussed. In 2016, 2017, and 2018 the ATLAS detector
recorded 35.6 fb−1, 46.9 fb−1, and 60.6 fb−1 respectively of
proton-proton collision data at a centre-of-mass energy of 13 TeV. In order to
deal with the very high interaction multiplicities per bunch crossing expected
with the 13 TeV collisions the inner detector trigger was redesigned during the
long shutdown of the Large Hadron Collider from 2013 until 2015. An overview of
these developments is provided and the performance of the tracking in the
trigger for the muon, electron, tau and b-jet signatures is discussed. The
high performance of the inner detector trigger with these extreme interaction
multiplicities demonstrates how the inner detector tracking continues to lie at
the heart of the trigger performance and is essential in enabling the ATLAS
physics programme
Treatment of Complications Following Endovascular Repair of Abdominal Aortic Aneurysms
- Publication venue
- Thieme Medical Publishers
- Publication date
- Field of study
Endovascular aneurysm repair (EVAR) is an important treatment option for abdominal aortic aneurysms, with lower perioperative morbidity and mortality rates than open surgical aneurysm repair. However, EVAR is associated with several unique complications that are not encountered with surgical repair such as endoleaks, graft migration, and renal artery occlusion. Preservation of the morbidity and mortality advantages of EVAR relies on the successful treatment of these complications by minimally invasive, endovascular approaches. Some of the techniques used to treat EVAR complications include balloon dilation and stenting, deployment of additional stent-graft pieces, coil embolization, and thrombolysis. Although the employment of these endovascular salvage techniques is common, data regarding their intermediate- to long-term efficacy is sparse, and further studies are needed to determine their efficacy in preventing conversion to open aneurysm repair and aneurysm rupture
- …