Article dans une revue 25/07/2025
Risk stratification in hypertension
Adrien Grandjean , Pierre-Yves Courand , Carine Mouly-Bertin , Constance Berge , Fatou Langevin , hal-03538713 , Damien Garcia , Pierre Lantelme
Article dans une revue 24/07/2025
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
James Thaventhiran , Hana Lango Allen , Oliver Burren , William Rae , Daniel Greene , Emily Staples , Zinan Zhang , James Farmery , Ilenia Simeoni , Elizabeth Rivers , Jesmeen Maimaris , Christopher Penkett , Jonathan Stephens , Sri Deevi , Alba Sanchis-Juan , Nicholas Gleadall , Moira Thomas , Ravishankar Sargur , Pavels Gordins , Helen Baxendale
Article dans une revue 24/07/2025
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro , William Astle , Karyn Megy , Stefan Gräf , Daniel Greene , Olga Shamardina , Hana Lango Allen , Alba Sanchis-Juan , Mattia Frontini , Chantal Thys , Jonathan Stephens , Rutendo Mapeta , Oliver Burren , Kate Downes , Matthias Haimel , Salih Tuna , Sri Deevi , Timothy Aitman , David Bennett , Paul Calleja
Article dans une revue 24/07/2025
Macrofilaricidal Benzimidazole–Benzoxaborole Hybrids as an Approach to the Treatment of River Blindness: Part 2. Ketone Linked Analogs
James Farmery , Mike Smith , Aarnoud Huissoon , Abigail Furnell , Adam Mead , Adam Levine , Adnan Manzur , Adrian Thrasher , Alan Greenhalgh , Alasdair Parker , Alba Sanchis-Juan , Alex Richter , Alice Gardham , Allan Lawrie , Aman Sohal , Amanda Creaser-Myers , Amy Frary , Andreas Greinacher , Andreas Themistocleous , Andrew Peacock
Article dans une revue 24/07/2025
Cold Agglutinin Syndrome Secondary to Mycoplasma pneumoniae Infection in Adults: Results From a Large French Observational Study ( MyCOLD Study)
Kevin Chevalier , Matthieu Holub , Romain Palich , Karine Blanckaert , Laurent Gilardin , Louis Terriou , Bérangère Arnould , Solal Bellaiche , Samuel Deshayes , Julie Mérindol , Simon Rolland , Simon Valentin , Rishma Amarsy , Sylvain Audia , Virginie Baltes , Amaury Barret , Pierre‐louis Cariou , Jessy Cattelan , Hortense Chassepot , Dorothée Chopin
Article dans une revue 24/07/2025
Germline selection shapes human mitochondrial DNA diversity
Wei Wei , Salih Tuna , Michael Keogh , Katherine Smith , Timothy Aitman , Phil Beales , David Bennett , Daniel Gale , Maria Bitner-Glindzicz , Graeme Black , Paul Brennan , Perry Elliott , Frances Flinter , R. Andres Floto , Henry Houlden , Melita Irving , Ania Koziell , Eamonn Maher , Hugh Markus , Nicholas Morrell
Article dans une revue 24/07/2025
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
James Thaventhiran , Hana Lango Allen , Oliver Burren , William Rae , Daniel Greene , Emily Staples , Zinan Zhang , James Farmery , Ilenia Simeoni , Elizabeth Rivers , Jesmeen Maimaris , Christopher Penkett , Jonathan Stephens , Sri Deevi , Alba Sanchis-Juan , Nicholas Gleadall , Moira Thomas , Ravishankar Sargur , Pavels Gordins , Helen Baxendale
Article dans une revue 24/07/2025
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro , William Astle , Karyn Megy , Stefan Gräf , Daniel Greene , Olga Shamardina , Hana Lango Allen , Alba Sanchis-Juan , Mattia Frontini , Chantal Thys , Jonathan Stephens , Rutendo Mapeta , Oliver Burren , Kate Downes , Matthias Haimel , Salih Tuna , Sri Deevi , Timothy Aitman , David Bennett , Paul Calleja
Article dans une revue 24/07/2025
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease
Esther Nossent , Fabrice Antigny , hal-04009018 , Harm Jan Bogaard , Maria Rosa Ghigna , Mélanie Lambert , Vincent Thomas de Montpréville , Barbara Girerd , hal-04009018 , hal-04009018 , hal-04009018 , Elie Fadel , hal-04009018 , Olivier Sitbon , Gérald Simonneau , Anton Vonk Noordegraaf , Marc Humbert , hal-04009018 , Peter Dorfmüller
23/07/2025
Measurement of the top-quark pole mass in dileptonic $t\bar{t}+ 1\text{-jet}$ events at $\sqrt{s}=13$ TeV with the ATLAS experiment
Georges Aad , Erlend Aakvaag , Braden Keim Abbott , Sara Abdelhameed , Kira Abeling , Nils Julius Abicht , Haider Abidi , Mohammed Aboelela , Asmaa Aboulhorma , Halina Abramowicz , Yiming Abulaiti , Bobby Samir Acharya , Anke Ackermann , Claire Adam Bourdarios , Leszek Adamczyk , Sagar Addepalli , Matthew John Addison , Jahred Adelman , Aytul Adiguzel , Tim Adye
Article dans une revue 23/07/2025
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease
Esther Nossent , Fabrice Antigny , hal-03983262 , Harm Jan Bogaard , Maria Rosa Ghigna , Mélanie Lambert , Vincent Thomas de Montpréville , Barbara Girerd , hal-03983262 , hal-03983262 , hal-03983262 , Elie Fadel , hal-03983262 , Olivier Sitbon , Gérald Simonneau , Anton Vonk Noordegraaf , Marc Humbert , hal-03983262 , Peter Dorfmüller
Article dans une revue 23/07/2025
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Yoko Ito , Keren Carss , Sofia Duarte , Taila Hartley , Boris Keren , Manju Kurian , Isabelle Marey , Perinne Charles , Carla Mendonça , Caroline Nava , Rolph Pfundt , Alba Sanchis-Juan , Hans van Bokhoven , Anthony van Essen , Conny van Ravenswaaij-Arts , Kym Boycott , Kristin Kernohan , Sarah Dyack , F. Lucy Raymond , Timothy Aitman
Article dans une revue 23/07/2025
Chronological and geomorphological investigation of fossil debris-covered glaciers in relation to deglaciation processes: A case study in the Sierra de La Demanda, northern Spain
José M. Fernández-Fernández , David Palacios , José García-Ruiz , Nuria Andrés , Irene Schimmelpfennig , Amelia Gómez-Villar , Javier Santos-González , Javier Álvarez-Martínez , José Arnáez , José Úbeda , Laëtitia Léanni , Georges Aumaitre , Didier Bourles , Karim Keddadouche
Article dans une revue 23/07/2025
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension
Marine Germain , Mélanie Eyries , hal-02565627 , Odette Poirier , Barbara Girerd , Peter Dorfmüller , Florence Coulet , hal-02565627 , Svetlana Maugenre , Christophe Guignabert , Wassila Carpentier , Anton Vonk-Noordegraaf , Marilyne Levy , Ari Chaouat , Jean-Charles Lambert , Marion Bertrand , Anne-Marie Dupuy , Luc Letenneur , Mark Lathrop , Philippe Amouyel
Article dans une revue 23/07/2025
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Charaka Hadinnapola , Marta Bleda , Matthias Haimel , Nicholas Screaton , Andrew Swift , Peter Dorfmüller , Stephen Preston , Mark Southwood , Jules Hernandez-Sanchez , Jennifer Martin , Carmen Treacy , Katherine Yates , Harm Bogaard , Colin Church , Gerry Coghlan , Robin Condliffe , Paul Corris , Simon Gibbs , Barbara Girerd , Simon Holden
Article dans une revue 23/07/2025
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease
Grégoire Manaud , Esther Nossent , Mélanie Lambert , Maria-Rosa Ghigna , inserm-02561102 , Maria-Candida Vinhas , Benoît Ranchoux , Sébastien Dumas , Audrey Courboulin , Barbara Girerd , inserm-02561102 , Juliette Bignard , Olivier Claude , Florence Lecerf , Aurélie Hautefort , Monica Florio , Banghua Sun , inserm-02561102 , Stijn Verleden , Séverine Rémy
23/07/2025
Study of Higgs boson pair production in the $HH \rightarrow b \overline{b} \gamma\gamma$ final state with 308 fb$^{-1}$ of data collected at $\sqrt{s} = 13$ TeV and 13.6 TeV by the ATLAS experiment
Georges Aad , Erlend Aakvaag , Braden Keim Abbott , Sara Abdelhameed , Kira Abeling , Nils Julius Abicht , Haider Abidi , Mohammed Aboelela , Asmaa Aboulhorma , Halina Abramowicz , Yiming Abulaiti , Bobby Samir Acharya , Anke Ackermann , Claire Adam Bourdarios , Leszek Adamczyk , Sagar Addepalli , Matthew John Addison , Jahred Adelman , Aytul Adiguzel , Tim Adye
Communication dans un congrès 23/07/2025
GCN2 regulates BMP signaling: consequence for PVOD pathobiology and therapeutic management
Grégoire Manaud , Mélanie Lambert , Bahgat Soilih , Barbara Girerd , hal-03994716 , Juliette Bignard , Olivier Claude , Florence Lecerf , Monica Florio , Banghua Sun , hal-03994716 , Stjin Verleden , Séverine Rémy , Ignacio Anegon , hal-03994716 , Elie Fadel , Gérald Simmoneau , Marc Humbert , hal-03994716 , Fabrice Antigny
Article dans une revue 22/07/2025
The STROBE-X Wide Field Monitor Instrument
Ronald A Remillard , Margarita Hernanz , Jean In 'T Zand , Paul S Ray , Valter Bonvicini , Søren Brandt , Terri Brandt , Alex Carmona , Yuri Evangelista , Daniel Alvarez Franco , Cynthia Froning , Jose-Luis Galvez , Gianluigi de Geronimo , Martin Grim , Emrah Kalemci , Lucien Kuiper , Irfan Kuvvetli , Thomas J Maccarone , Witold Nowosielski , Dheeraj R.R Pasham
Article dans une revue 22/07/2025
The magnetic and spin-down properties of slowly rotating fully convective M dwarfs
Victor See , Louis Amard , Stefano Bellotti , Sudeshna Boro Saikia , Emma L. Brown , Jean-François Donati , Rim Fares , Adam J. Finley , Colin P. Folsom , Élodie M. Hébrard , Moira M. Jardine , Sandra V. Jeffers , Baptiste Klein , Lisa T. Lehmann , Stephen C. Marsden , Sean P. Matt , Matthew W. Mengel , Julien Morin , Pascal Petit , Katelyn Smith
Article dans une revue 22/07/2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS
Charlène Daval , Nicolas Meunier-Beillard , Eléonore Viora-Dupont , Julian Delanne , Aurore Garde , Caroline Racine , Frédéric Tran Mau-Them , Anne‐sophie Denommé‐pichon , Christophe Philippe , Ange-Line Bruel , Hana Safraou , Sylvie Odent , Chloé Quélin , Marine Legendre , Sophie Naudion , Médéric Jeanne , Marie‐line Jacquemont , Agnés Guichet , Camille Saldana , Anne Marie Guerrot