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
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 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 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 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
Article dans une revue 19/07/2025
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 18/07/2025
The Atacama Cosmology Telescope: High-resolution component-separated maps across one-third of the sky
William Coulton , Mathew S Madhavacheril , Adriaan J Duivenvoorden , J. Colin Hill , Irene Abril-Cabezas , Peter A.R Ade , Simone Aiola , Tommy Alford , Mandana Amiri , Stefania Amodeo , Rui An , Zachary Atkins , Jason E Austermann , Nicholas Battaglia , Elia Stefano Battistelli , James A Beall , Rachel Bean , Benjamin Beringue , Tanay Bhandarkar , Emily Biermann
Article dans une revue 17/07/2025
Quantum critical spin-liquid-like behavior in the <math><mrow><mi>S</mi><mo>=</mo><mfrac><mn>1</mn><mn>2</mn></mfrac></mrow></math> quasikagome-lattice compound <math><msub><mi mathvariant="normal">CeRh</mi><mrow><mn>1</mn><mo>−</mo><mi>x</mi></mrow></msub><msub><mi mathvariant="normal">Pd</mi><mi>x</mi></msub><mi>Sn</mi></math> investigated using muon spin relaxation and neutron scattering
Rajesh Tripathi , D.T. Adroja , C. Ritter , Shivani Sharma , Chongli Yang , A.D. Hillier , M.M. Koza , F. Demmel , A. Sundaresan , S. Langridge , Wataru Higemoto , Takashi U. Ito , A.M. Strydom , G.B.G. Stenning , A. Bhattacharyya , David Keen , H.C. Walker , R.S. Perry , Francis Pratt , Qimiao Si
Communication dans un congrès 17/07/2025
Geophysics of terrestrial impact structures: new data and modeling
Yoann Quesnel , Philippe Lambert , Nessrine Dellai , Pierre Rochette , Minoru Uehara , J. Gattacceca , François Demory , Marc Munschy , Pauline Le Maire , Pascal Sailhac , Johanna Lofi , Cedric Champollion , Gordon Osinski
Article dans une revue 16/07/2025
Daratumumab (DARA) + Bortezomib/Thalidomide/Dexamethasone (D-VTd) Followed by DARA Maintenance in Transplant-Eligible (TE) Newly Diagnosed Multiple Myeloma (NDMM): &gt;6-Year Update of the Phase 3 CASSIOPEIA Study
Philippe Moreau , Cyrille Hulin , Aurore Perrot , Bertrand Arnulf , Karim Belhadj , Lotfi Benboubker , Sonja Zweegman , Hélène Caillon , Denis Caillot , Hervé Avet-Loiseau , Michel Delforge , Thomas Dejoie , Thierry Facon , Cécile Sonntag , Jean Fontan , hal-04681582 , Kon-Siong Jie , Lionel Karlin , Frédérique Kuhnowski , Jerome Lambert
Article dans une revue 16/07/2025
Discontinuation versus continuation of imatinib in patients with advanced gastrointestinal stromal tumours (BFR14): exploratory long-term follow-up of an open-label, multicentre, randomised, phase 3 trial
hal-04675443 , Quentin Devin , Florence Duffaud , Maud Toulmonde , Nelly Firmin , Olivier Collard , Emmanuelle Bompas , Benjamin Verret , hal-04675443 , Sébastien Salas , Clemence Henon , hal-04675443 , Mehdi Brahmi , Armelle Dufresne , Marc Pracht , Alice Hervieu , hal-04675443 , Francois Bertucci , Maria Rios , Esma Saada-Bouzid
Article dans une revue 16/07/2025
Long term survival in adult osteosarcoma patients treated with a two-drug regimen: Final results of the OSAD93 phase II study of the FSG-GETO
hal-04675208 , hal-04675208 , Maud Toulmonde , Thibaud Valentin , Loic Chaigneau , Maria Rios , Esma Saada-Bouzid , Nelly Firmin , Francois Bertucci , Perrine Marec-Berard , hal-04675208 , Cyril Lervat , Frederic Rolland , Antoine Thyss , Thierry Conroy , Mehdi Brahmi , Armelle Dufresne , Yacine Merrouche , Maud Brunat-Mentigny , Pierre Biron