Nicolas Garcelon

Affiliations

Inserm U1163, Imagine Institute, Paris Center University, Paris, France; Inserm, Cordeliers Research Center, U1138, eq 22, Paris Descartes University, Sorbonne Paris-Cite, Paris, France. Electronic address: nicolas.garcelon@institut.imagine.org.

Publications (70)

Electronic health records for the diagnosis of rare diseases.

Kidney international

Avec: Nicolas Garcelon , Anita Burgun , Rémi Salomon , Antoine Neuraz

The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.

Pediatric nephrology (Berlin, Germany)

Avec: Pauline Iorio , Laurence Heidet , Caroline Rutten , Nicolas Garcelon , Marie-Pierre Audrézet , Vincent Morinière , Nathalie Boddaert , Rémi Salomon , Laureline Berteloot

The Epidemiology of Patients' Email Addresses in a French University Hospital: Case-Control Study.

Journal of medical Internet research

Avec: Vincent Looten , Antoine Neuraz , Nicolas Garcelon , Anita Burgun , Gilles Chatellier , Bastien Rance

Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.

The journal of allergy and clinical immunology. In practice

Avec: Laura Polivka , Julien Rossignol , Antoine Neuraz , Djiba Condé , Julie Agopian , Cécile Méni , Nicolas Garcelon , Patrice Dubreuil , Leïla Maouche-Chrétien , Smail Hadj-Rabia , Olivier Hermine , Christine Bodemer

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis.

Studies in health technology and informatics

Avec: Xiaoyi Chen , Carole Faviez , Marc Vincent , Nicolas Garcelon , Sophie Saunier , Anita Burgun

A Comprehensive Analysis of Immune Constituents in Blood and Bronchoalveolar Lavage Allows Identification of an Immune Signature of Severe Asthma in Children.

Frontiers in immunology

Avec: Karine Adel-Patient , Marta Grauso , Rola Abou-Taam , Blanche Guillon , Céline Dietrich , François Machavoine , Mélanie Briard , Nicolas Garcelon , Hassan Faour , Antoine Neuraz , Christophe Delacourt , Thierry Jo Molina , Maria Leite-de-Moraes , Guillaume Lezmi

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.

Frontiers in pharmacology

Avec: Xiaoyi Chen , Carole Faviez , Marc Vincent , Luis Briseño-Roa , Hassan Faour , Jean-Philippe Annereau , Stanislas Lyonnet , Mohamad Zaidan , Sophie Saunier , Nicolas Garcelon , Anita Burgun

Correction: Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS).

JMIR medical informatics

Avec: Ivan Lerner , Arnaud Serret-Larmande , Bastien Rance , Nicolas Garcelon , Anita Burgun , Laurent Chouchana , Antoine Neuraz

An automatic facial landmarking for children with rare diseases.

American journal of medical genetics. Part A

Avec: Quentin Hennocq , Thomas Bongibault , Matthieu Bizière , Ombline Delassus , Maxime Douillet , Valérie Cormier-Daire , Jeanne Amiel , Stanislas Lyonnet , Sandrine Marlin , Marlène Rio , Arnaud Picard , Roman Hossein Khonsari , Nicolas Garcelon

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

BMC medical informatics and decision making

Avec: Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Mohamad Zaidan , Katy Billot , Friederike Petzold , Hassan Faour , Maxime Douillet , Jean-Michel Rozet , Valérie Cormier-Daire , Tania Attié-Bitach , Stanislas Lyonnet , Sophie Saunier , Anita Burgun

Humanitarian Facial Recognition for Rare Craniofacial Malformations.

Plastic and reconstructive surgery. Global open

Avec: Quentin Hennocq , Thomas Bongibault , Nicolas Garcelon , Roman Hossein Khonsari

Charting a course for global progress in PIDs by 2030 - proceedings from the IPOPI global multi-stakeholders' summit (September 2023).

Frontiers in immunology

Avec: Samya Van Coillie , Johan Prévot , Silvia Sánchez-Ramón , David M Lowe , Michael Borg , Brigitte Autran , Gesmar Segundo , Antonio Pecoraro , Nicolas Garcelon , Cornelis Boersma , Susana L Silva , Jose Drabwell , Isabella Quinti , Isabelle Meyts , Adli Ali , Siobhan O Burns , Martin van Hagen , Martine Pergent , Nizar Mahlaoui

Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.

Haematologica

Avec: Julien Rossignol , Sophie Georgin-Lavialle , Danielle Canioni , Omer Beganovic , Chantal Brouzes , Olivier Fain , Maël Heiblig , Clément Gourguechon , Philippe Guilpain , Cristina Bulai-Livideanu , Stéphane Barete , Julie Agopian , Fabienne Brenet , Patrice Dubreuil , Richard Lemal , Olivier Tournilhac , Louis Terriou , David Launay , Laurence Bouillet , Catharina Chatain , Ghandi Damaj , Thomas Ballul , Celine Greco , Laura Polivka , Laurent Frenzel , Cécile Meni , Hassiba Bouktit , Dina Benabou , Clotilde Devin , Caroline Gaudy-Marqueste , Marie Gousseff , Edwige Le Mouel , Antoine Neel , Dana Ranta , Roland Jaussaud , Thierry Jo Molina , Julie Bruneau , Rose-Marie Javier , Fabien Pelletier , Florence Castelain , Frederique Retornaz , Quentin Cabrera , Patricia Zunic , Marie Pierre Gourin , Ewa Wierzbicka-Hainaut , Jean François Viallard , Christian Lavigne , Cyrille Hoarau , Isabelle Durieu , Sophie Dimicoli-Salazar , Jose Miguel Torregrosa-Diaz , Audrey Duval , Nicolas Garcelon , Jeremie Lespinasse , Angèle Soria , Yannick Chantran , Michel Arock , Christine Bodemer , Olivier Lortholary , Vahid Asnafi , Olivier Hermine , Ludovic Lhermitte

Diagnosis support systems for rare diseases: a scoping review.

Orphanet journal of rare diseases

Avec: Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Bertrand Knebelmann , Rémi Salomon , Stanislas Lyonnet , Sophie Saunier , Anita Burgun

Association between 25(OH) vitamin D and graft survival in renal transplanted children.

Pediatric transplantation

Avec: Mélodie Mosca , Mathilde Lion-Lambert , Frank Bienaimé , Romain Berthaud , Guillaume Dorval , Nicolas Garcelon , Laurène Dehoux , Saoussen Krid , Marina Charbit , Marion Rabant , Patrick Niaudet , Rémi Salomon , Justine Bacchetta , Olivia Boyer

Hepatobiliary Complications in Children with Sickle Cell Disease: A Retrospective Review of Medical Records from 616 Patients.

Journal of clinical medicine

Avec: Slimane Allali , Mariane de Montalembert , Valentine Brousse , Claire Heilbronner , Melissa Taylor , Josephine Brice , Elisabetta Manzali , Nicolas Garcelon , Florence Lacaille

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.

Developmental medicine and child neurology

Avec: Claire Bar , Jean-Michel Pedespan , Olivia Boccara , Nicolas Garcelon , Raphael Levy , David Grévent , Nathalie Boddaert , Rima Nabbout

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances , Cyril Mignot , Isabelle Desguerre , Nicolas Garcelon , Edor Kabashi , Rima Nabbout

Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemic.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons

Avec: Laureline Berteloot , Romain Berthaud , Sarah Temmam , Cécile Lozach , Elisa Zanelli , Thomas Blanc , Yves Heloury , Carmen Capito , Christophe Chardot , Sabine Sarnacki , Nicolas Garcelon , Florence Lacaille , Marina Charbit , Myriam Pastural , Marion Rabant , Nathalie Boddaert , Marianne Leruez-Ville , Marc Eloit , Isabelle Sermet-Gaudelus , Laurène Dehoux , Olivia Boyer

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Studies in health technology and informatics

Avec: Carole Faviez , Marc Vincent , Nicolas Garcelon , Caroline Michot , Genevieve Baujat , Valerie Cormier-Daire , Sophie Saunier , Xiaoyi Chen , Anita Burgun

Induction therapy for pediatric onset class IV lupus nephritis: Mycophenolate Mofetil versus Cyclophosphamide.

Journal of nephrology

Avec: Marwa Chbihi , Laurye-Anne Eveillard , Quentin Riller , Romain Brousse , Romain Berthaud , Pierre Quartier , Rémi Salomon , Marina Charbit , Marina Avramescu , Nathalie Biebuyck , Laurène Dehoux , Nicolas Garcelon , Jean-Paul Duong-Van-Huyen , Brigitte Bader-Meunier , Olivia Boyer

Allograft function and muscle mass evolution after kidney transplantation.

Journal of cachexia, sarcopenia and muscle

Avec: François Gaillard , Mélissa Ould Rabah , Nicolas Garcelon , Malik Touam , Antoine Neuraz , Christophe Legendre , Dany Anglicheau , Dominique Prié , Frank Bienaimé

Improving Patient Similarity Using Different Modalities of Phenotypes Extracted from Clinical Narratives.

Studies in health technology and informatics

Avec: Xiaoyi Chen , Carole Faviez , Marc Vincent , Sophie Saunier , Nicolas Garcelon , Anita Burgun

Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study.

The Journal of pediatrics

Avec: Michaela Semeraro , Cyrielle Fouquet , Yoann Vial , Jeanne Amiel , Louise Galmiche , Célia Cretolle , Thomas Blanc , Valérie Jolaine , Nicolas Garcelon , Natacha Entz-Werle , Isabelle Pellier , Cécile Vérité , Sophie Taque , Aurore Coulomb , Arnaud Petit , Nadège Corradini , Naim Bouazza , Brigitte Lacour , Jacqueline Clavel , Laurence Brugières , Franck Bourdeaut , Sabine Sarnacki , Auteur inconnu

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Kidney international

Avec: Friederike Petzold , Katy Billot , Xiaoyi Chen , Charline Henry , Emilie Filhol , Yoann Martin , Marina Avramescu , Maxime Douillet , Vincent Morinière , Pauline Krug , Cécile Jeanpierre , Kalman Tory , Olivia Boyer , Anita Burgun , Aude Servais , Remi Salomon , Alexandre Benmerah , Laurence Heidet , Nicolas Garcelon , Corinne Antignac , Mohamad Zaidan , Sophie Saunier , Auteur inconnu

Inflammatory rebound and postinfectious inflammatory response in children with pleural infection: A single-center retrospective study.

Pediatric pulmonology

Avec: Clément Poirault , Alice Hadchouel , Charlotte Roy , Sophie Schmartz , Apolline Gonsard , Nicolas Garcelon , Christophe Delacourt , David Drummond

The spectrum of kidney function alterations in adolescents with a solitary functioning kidney.

Pediatric nephrology (Berlin, Germany)

Avec: Mathilde Grapin , François Gaillard , Nathalie Biebuyck , Melissa Ould-Rabah , Carole Hennequin , Romain Berthaud , Guillaume Dorval , Thomas Blanc , Maryvonne Hourmant , Nassim Kamar , Lionel Rostaing , Lionel Couzi , Nicolas Garcelon , Dominique Prié , Olivia Boyer , Frank Bienaimé

Association of Antihypertensive Agents with the Risk of In-Hospital Death in Patients with Covid-19.

Cardiovascular drugs and therapy

Avec: Laurent Chouchana , Nathanaël Beeker , Nicolas Garcelon , Bastien Rance , Nicolas Paris , Elisa Salamanca , Elisabeth Polard , Anita Burgun , Jean-Marc Treluyer , Antoine Neuraz , Auteur inconnu

Hemorrhage Expansion After Pediatric Intracerebral Hemorrhage.

Stroke

Avec: Gregoire Boulouis , Jean-François Hak , Basile Kerleroux , Sandro Benichi , Sarah Stricker , Florent Gariel , Quentin Alias , Marie Bourgeois , Philippe Meyer , Manoelle Kossorotoff , Lorenzo Garzelli , Nicolas Garcelon , Nathalie Boddaert , Andrea Morotti , Thomas Blauwblomme , Olivier Naggara

The Impact of Specialized Corpora for Word Embeddings in Natural Langage Understanding.

Studies in health technology and informatics

Avec: Antoine Neuraz , Bastien Rance , Nicolas Garcelon , Leonardo Campillos Llanos , Anita Burgun , Sophie Rosset

Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.

Orphanet journal of rare diseases

Avec: Tommaso Lo Barco , Mathieu Kuchenbuch , Nicolas Garcelon , Antoine Neuraz , Rima Nabbout

A Multi-Omics Common Data Model for Primary Immunodeficiencies.

Studies in health technology and informatics

Avec: Mélanie Buy , William Digan , Xiaoyi Chen , Julien Husson , Mickael Ménager , Frédéric Rieux-Laucat , Nicolas Garcelon , Auteur inconnu

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

Orphanet journal of rare diseases

Avec: Lisa Friedlander , Marc Vincent , Ariane Berdal , Valérie Cormier-Daire , Stanislas Lyonnet , Nicolas Garcelon

The Smart Data Extractor, a Clinician Friendly Solution to Accelerate and Improve the Data Collection During Clinical Trials.

Studies in health technology and informatics

Avec: Sophie Quennelle , Maxime Douillet , Lisa Friedlander , Olivia Boyer , Antoine Neuraz , Anita Burgun , Nicolas Garcelon

Deep Learning on Bone Scintigraphy to Detect Abnormal Cardiac Uptake at Risk of Cardiac Amyloidosis.

JACC. Cardiovascular imaging

Avec: Marc-Antoine Delbarre , François Girardon , Lucien Roquette , Paul Blanc-Durand , Marc-Antoine Hubaut , Éric Hachulla , Franck Semah , Damien Huglo , Nicolas Garcelon , Etienne Marchal , Isabelle El Esper , Christophe Tribouilloy , Nicolas Lamblin , Pierre Duhaut , Jean Schmidt , Emmanuel Itti , Thibaud Damy

Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.

The Journal of allergy and clinical immunology

Avec: Laura Polivka , Marine Madrange , Cristina Bulai-Livideanu , Stéphane Barete , Thomas Ballul , Antoine Neuraz , Celine Greco , Julie Agopian , Fabienne Brenet , Patrice Dubreuil , Charles Burdet , Richard Lemal , Olivier Tournilhac , Louis Terriou , David Launay , Laurence Bouillet , Clément Gourguechon , Ghandi Damaj , Laurent Frenzel , Cécile Meni , Hassiba Bouktit , Anne Florence Collange , Caroline Gaudy-Marqueste , Marie Gousseff , Edwige Le Mouel , Mohamed Hamidou , Antoine Neel , Dana Ranta , Roland Jaussaud , Philippe Guilpain , Danielle Canioni , Thierry Jo Molina , Julie Bruneau , Ludovic Lhermitte , Nicolas Garcelon , Rose-Marie Javier , Fabien Pelletier , Florence Castelain , Frederique Retornaz , Quentin Cabrera , Patricia Zunic , Marie Pierre Gourin , Ewa Wierzbicka-Hainaut , Jean François Viallard , Christian Lavigne , Cyrille Hoarau , Isabelle Durieu , Maël Heiblig , Sophie Dimicoli-Salazar , Jose Miguel Torregrosa-Diaz , Angèle Soria , Michel Arock , Olivier Lortholary , Christine Bodemer , Olivier Hermine , Julien Rossignol , Auteur inconnu

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Frontiers in pediatrics

Avec: Quentin Hennocq , Thomas Bongibault , Sandrine Marlin , Jeanne Amiel , Tania Attie-Bitach , Geneviève Baujat , Lucile Boutaud , Georges Carpentier , Pierre Corre , Françoise Denoyelle , François Djate Delbrah , Maxime Douillet , Eva Galliani , Wuttichart Kamolvisit , Stanislas Lyonnet , Dan Milea , Véronique Pingault , Thantrira Porntaveetus , Sandrine Touzet-Roumazeille , Marjolaine Willems , Arnaud Picard , Marlène Rio , Nicolas Garcelon , Roman H Khonsari

Determinants of dental care use in patients with rare diseases: a qualitative exploration.

BMC oral health

Avec: Lisa Friedlander , Ariane Berdal , Valérie Cormier-Daire , Stanislas Lyonnet , Nicolas Garcelon

Unclassifiable interstitial lung disease and autoimmunity: Towards IPAF in children?

Pediatric pulmonology

Avec: Laura Aoust , Laureline Berteloot , Philippe Drabent , Nicolas Garcelon , Christine Bodemer , Thierry Jo Molina , Brigitte Bader-Meunier , Alice Hadchouel

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Journal of biomedical informatics

Avec: Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Katy Billot , Marc Lelarge , Thomas Bonald , Hugo Garcia , Yoann Martin , Vincent Benoit , Marc Vincent , Hassan Faour , Maxime Douillet , Stanislas Lyonnet , Sophie Saunier , Anita Burgun

Osmoregulation Performance and Kidney Transplant Outcome.

Journal of the American Society of Nephrology : JASN

Avec: Manal Mazloum , Jordan Jouffroy , François Brazier , Christophe Legendre , Antoine Neuraz , Nicolas Garcelon , Dominique Prié , Dany Anglicheau , Frank Bienaimé

Natural Language Processing for Rapid Response to Emergent Diseases: Case Study of Calcium Channel Blockers and Hypertension in the COVID-19 Pandemic.

Journal of medical Internet research

Avec: Antoine Neuraz , Ivan Lerner , William Digan , Nicolas Paris , Rosy Tsopra , Alice Rogier , David Baudoin , Kevin Bretonnel Cohen , Anita Burgun , Nicolas Garcelon , Bastien Rance , Auteur inconnu

Computational diagnostic methods on 2D photographs: A review of the literature.

Journal of stomatology, oral and maxillofacial surgery

Avec: Quentin Hennocq , Roman Hossein Khonsari , Vincent Benoît , Marlène Rio , Nicolas Garcelon

Etiology of intracerebral hemorrhage in children: cohort study, systematic review, and meta-analysis.

Journal of neurosurgery. Pediatrics

Avec: Grégoire Boulouis , Sarah Stricker , Sandro Benichi , Jean-François Hak , Florent Gariel , Quentin Alias , Timothée de Saint Denis , Manoelle Kossorotoff , Fanny Bajolle , Lorenzo Garzelli , Kevin Beccaria , Giovanna Paternoster , Marie Bourgeois , Nicolas Garcelon , Annie Harroche , Rossella Letizia Mancusi , Nathalie Boddaert , Stephanie Puget , Francis Brunelle , Thomas Blauwblomme , Olivier Naggara

Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS).

JMIR medical informatics

Avec: Ivan Lerner , Arnaud Serret-Larmande , Bastien Rance , Nicolas Garcelon , Anita Burgun , Laurent Chouchana , Antoine Neuraz

Hyperventilation syndrome in children with asthma.

The Journal of asthma : official journal of the Association for the Care of Asthma

Avec: Manon Beauvais , Rola Abou Taam , Antoine Neuraz , Muriel Le Bourgeois , Christophe Delacourt , Hassan Faour , Nicolas Garcelon , Guillaume Lezmi

Histological characterization of liver involvement in systemic mastocytosis.

Liver international : official journal of the International Association for the Study of the Liver

Avec: Julien Rossignol , Danielle Canioni , Achille Aouba , Cristina Bulai-Livideanu , Stéphane Barete , Charles Lancesseur , Laura Polivka , Marine Madrange , Thomas Ballul , Antoine Neuraz , Celine Greco , Julie Agopian , Fabienne Brenet , Patrice Dubreuil , Richard Lemal , Olivier Tournilhac , Louis Terriou , David Launay , Laurence Bouillet , Clément Gourguechon , Laurent Frenzel , Cécile Meni , Caroline Gaudy-Marqueste , Marie Gousseff , Edwige Le Mouel , Mohamed Hamidou , Antoine Neel , Dana Ranta , Roland Jaussaud , Philippe Guilpain , Thierry J Molina , Julie Bruneau , Ludovic Lhermitte , Nicolas Garcelon , Rose-Marie Javier , Fabien Pelletier , Florence Castelain , Frederique Retornaz , Quentin Cabrera , Patricia Zunic , Marie Pierre Gourin , Ewa Wierzbicka-Hainaut , Jean François Viallard , Christian Lavigne , Cyrille Hoarau , Isabelle Durieu , Maël Heiblig , Sophie Dimicoli-Salazar , Jose M Torregrosa-Diaz , Angèle Soria , Michel Arock , Olivier Lortholary , Christine Bodemer , Stanislas Pol , Vincent Mallet , Olivier Hermine , Ghandi Damaj , Auteur inconnu

Using Deep Learning to Improve Phenotyping from Clinical Reports.

Studies in health technology and informatics

Avec: Marc Vincent , Maxime Douillet , Ivan Lerner , Antoine Neuraz , Anita Burgun , Nicolas Garcelon

BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology.

Frontiers in medicine

Avec: Guillemette Fouquet , Julien Rossignol , Laure Ricard , Flavia Guillem , Lucile Couronné , Vahid Asnafi , Manon Vavasseur , Mélanie Parisot , Nicolas Garcelon , Frédéric Rieux-Laucat , Arsène Mekinian , Olivier Hermine

Natural history of Myhre syndrome.

Orphanet journal of rare diseases

Avec: David Dawei Yang , Marlene Rio , Caroline Michot , Nathalie Boddaert , Wael Yacoub , Nicolas Garcelon , Briac Thierry , Damien Bonnet , Sophie Rondeau , Dominique Herve , Stephanie Guey , Francois Angoulvant , Valerie Cormier-Daire

Vesico-ureteral reflux diagnosis after initial kidney abscess: Results from a Paediatric Tertiary Hospital.

Acta paediatrica (Oslo, Norway : 1992)

Avec: Evgenia Preka , Nicholas Miller , Marina Avramescu , Laureline Berteloot , Nicolas Vinit , Nathalie Botto , Mathilde Grapin , Maud Prévot , Margaux Boistault , Nicolas Garcelon , Kiarash Taghavi , Cécile Schrimpf , Jérémie F Cohen , Thomas Blanc , Olivia Boyer

AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Avec: Quentin Hennocq , Giovanna Paternoster , Corinne Collet , Jeanne Amiel , Thomas Bongibault , Thomas Bouygues , Valérie Cormier-Daire , Maxime Douillet , David J Dunaway , Nu Owase Jeelani , Lara S van de Lande , Stanislas Lyonnet , Juling Ong , Arnaud Picard , Alexander J Rickart , Marlène Rio , Silvia Schievano , Eric Arnaud , Nicolas Garcelon , Roman H Khonsari

An Integrated Pipeline for Phenotypic Characterization, Clustering and Visualization of Patient Cohorts in a Rare Disease-Oriented Clinical Data Warehouse.

Studies in health technology and informatics

Avec: Xiaoyi Chen , Junyuan Wang , Carole Faviez , Xiaomeng Wang , Marc Vincent , Rosy Tsopra , Anita Burgun , Nicolas Garcelon

Congenital abnormalities associated with microtia: A 10-YEARS retrospective study.

International journal of pediatric otorhinolaryngology

Avec: Antoine Paul , Sophie Achard , François Simon , Nicolas Garcelon , Erea Noel Garabedian , Vincent Couloigner , Charlotte Celerier , Françoise Denoyelle

One-stage circumferential limb ring constriction release and direct circular skin closure in amniotic band syndrome: a 14-case series.

Orthopaedics & traumatology, surgery & research : OTSR

Avec: Benjamin Dufournier , Stéphane Guero , Marine de Tienda , Caroline Dana , Nicolas Garcelon , Christophe Glorion , Arielle Salon , Stéphanie Pannier

Intravenous pulses of methylprednisolone for infants with severe bronchopulmonary dysplasia and respiratory support after 3 months of age.

Pediatric pulmonology

Avec: Elodie Billion , Alice Hadchouel , Nicolas Garcelon , Christophe Delacourt , David Drummond

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.

Pediatric nephrology (Berlin, Germany)

Avec: Guillaume Dorval , Olivia Boyer , Anne Couderc , Jean-Daniel Delbet , Laurence Heidet , Dominique Debray , Pauline Krug , Muriel Girard , Brigitte Llanas , Marina Charbit , Saoussen Krid , Nathalie Biebuyck , Marc Fila , Cécile Courivaud , Frances Tilley , Nicolas Garcelon , Thomas Blanc , Christophe Chardot , Rémi Salomon , Florence Lacaille

Mortality and functional outcome after pediatric intracerebral hemorrhage: cohort study and meta-analysis.

Journal of neurosurgery. Pediatrics

Avec: Grégoire Boulouis , Sarah Stricker , Sandro Benichi , Jean-François Hak , Florent Gariel , Manoelle Kossorotoff , Nicolas Garcelon , Annie Harroche , Quentin Alias , Lorenzo Garzelli , Fanny Bajolle , Nathalie Boddaert , Philippe Meyer , Thomas Blauwblomme , Olivier Naggara

Do You Need Embeddings Trained on a Massive Specialized Corpus for Your Clinical Natural Language Processing Task?

Studies in health technology and informatics

Avec: Antoine Neuraz , Vincent Looten , Bastien Rance , Nicolas Daniel , Nicolas Garcelon , Leonardo Campillos Llanos , Anita Burgun , Sophie Rosset

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Blood

Avec: Jérôme Hadjadj , Nathalie Aladjidi , Helder Fernandes , Guy Leverger , Aude Magérus-Chatinet , Fabienne Mazerolles , Marie-Claude Stolzenberg , Sidonie Jacques , Capucine Picard , Jérémie Rosain , Cécile Fourrage , Sylvain Hanein , Mohammed Zarhrate , Marlène Pasquet , Wadih Abou Chahla , Vincent Barlogis , Yves Bertrand , Isabelle Pellier , Elodie Colomb Bottollier , Fanny Fouyssac , Pascale Blouin , Caroline Thomas , Nathalie Cheikh , Eric Dore , Corinne Pondarre , Dominique Plantaz , Eric Jeziorski , Frédéric Millot , Nicolas Garcelon , Stéphane Ducassou , Yves Perel , Thierry Leblanc , Bénédicte Neven , Alain Fischer , Frédéric Rieux-Laucat , Auteur inconnu

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments.

Orphanet journal of rare diseases

Avec: David Dawei Yang , Geneviève Baujat , Antoine Neuraz , Nicolas Garcelon , Claude Messiaen , Arnaud Sandrin , Gérard Cheron , Anita Burgun , Zagorka Pejin , Valérie Cormier-Daire , François Angoulvant

Evaluation of Hydroxychloroquine Blood Concentrations and Effects in Childhood-Onset Systemic Lupus Erythematosus.

Pharmaceuticals (Basel, Switzerland)

Avec: Noël Zahr , Saik Urien , Christian Funck-Brentano , Hélène Vantomme , Nicolas Garcelon , Isabelle Melki , Margaux Boistault , Olivia Boyer , Brigitte Bader-Meunier

An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years.

The Journal of allergy and clinical immunology

Avec: Mickaël Alligon , Nizar Mahlaoui , Virginie Courteille , Laurence Costes , Veronica Afonso , Philippe Randrianomenjanahary , Nathalie de Vergnes , Anja Ranohavimparany , Duy Vo , Inès Hafsa , Perrine Bach , Vincent Benoit , Nicolas Garcelon , Alain Fischer , Auteur inconnu

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Prenatal diagnosis

Avec: Quentin Hennocq , Nicolas Garcelon , Thomas Bongibault , Thomas Bouygues , Sandrine Marlin , Jeanne Amiel , Lucile Boutaud , Maxime Douillet , Stanislas Lyonnet , Vèronique Pingault , Arnaud Picard , Marlèe Rio , Tania Attie-Bitach , Roman H Khonsari , Nathalie Roux

Targeting Serotonin With Common Antidepressants Induces Rapid Recovery From Cytopenia.

Stem cells translational medicine

Avec: Guillemette Fouquet , Julien Rossignol , Nicolas Garcelon , Olivier Hermine , Francine Côté , Tereza Coman

Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.

The Journal of allergy and clinical immunology

Avec: Coralie Bloch , Jean Philippe Jais , Marine Gil , Marouane Boubaya , Yves Lepelletier , Brigitte Bader-Meunier , Nizar Mahlaoui , Nicolas Garcelon , Olivier Lambotte , David Launay , Claire Larroche , Estibaliz Lazaro , Francois Liffermann , Olivier Lortholary , Marc Michel , Jean-Marie Michot , Pierre Morel , Morgane Cheminant , Felipe Suarez , Louis Terriou , Geoffrey Urbanski , Jean-Francois Viallard , Alexandre Alcais , Alain Fischer , Geneviève de Saint Basile , Olivier Hermine , Auteur inconnu

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Scientific reports

Avec: Quentin Hennocq , Marjolaine Willems , Jeanne Amiel , Stéphanie Arpin , Tania Attie-Bitach , Thomas Bongibault , Thomas Bouygues , Valérie Cormier-Daire , Pierre Corre , Klaus Dieterich , Maxime Douillet , Jean Feydy , Eva Galliani , Fabienne Giuliano , Stanislas Lyonnet , Arnaud Picard , Thantrira Porntaveetus , Marlène Rio , Flavien Rouxel , Vorasuk Shotelersuk , Annick Toutain , Kevin Yauy , David Geneviève , Roman H Khonsari , Nicolas Garcelon

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.

Orphanet journal of rare diseases

Avec: Carole Faviez , Marc Vincent , Nicolas Garcelon , Olivia Boyer , Bertrand Knebelmann , Laurence Heidet , Sophie Saunier , Xiaoyi Chen , Anita Burgun

Natural history of rare diseases using Natural Language Processing of narrative unstructured electronic health records: the example of Dravet syndrome.

Epilepsia

Avec: Tommaso Lo Barco , Nicolas Garcelon , Antoine Neuraz , Rima Nabbout

Extracellular Fluid Volume and Mortality after Kidney Transplantation.

Kidney360

Avec: Melissa Ould Rabah , Lise Morin , Nassim Dali-Youcef , Guillaume Géri , Manal Mazloum , Nicolas Garcelon , Julien Husson , Malik Touam , Bruno Moulin , Sophie Caillard , Christophe Legendre , Dany Anglicheau , Dominique Prié , Frank Bienaimé

Réseau de co-auteurs

Antoine Neuraz 22 collaborations

Anita Burgun 21 collaborations

Xiaoyi Chen 11 collaborations

Stanislas Lyonnet 11 collaborations

Maxime Douillet 10 collaborations

Olivia Boyer 10 collaborations

None None 10 collaborations

Marc Vincent 9 collaborations

Sophie Saunier 9 collaborations

Carole Faviez 8 collaborations

Nathalie Boddaert 7 collaborations

Bastien Rance 7 collaborations

Olivier Hermine 7 collaborations

Quentin Hennocq 7 collaborations

Valérie Cormier-Daire 7 collaborations

Rémi Salomon 6 collaborations

Julien Rossignol 6 collaborations

Thomas Bongibault 6 collaborations

Jeanne Amiel 6 collaborations

Christine Bodemer 5 collaborations

Hassan Faour 5 collaborations

Marlène Rio 5 collaborations

Arnaud Picard 5 collaborations

Frank Bienaimé 5 collaborations

Thomas Blanc 5 collaborations

Laurence Heidet 4 collaborations

Laureline Berteloot 4 collaborations

Laura Polivka 4 collaborations

Julie Agopian 4 collaborations

Patrice Dubreuil 4 collaborations

Christophe Delacourt 4 collaborations

Thierry Jo Molina 4 collaborations

Ivan Lerner 4 collaborations

Louis Terriou 4 collaborations

David Launay 4 collaborations

Olivier Lortholary 4 collaborations

Romain Berthaud 4 collaborations

Marina Charbit 4 collaborations

Rima Nabbout 4 collaborations

Brigitte Bader-Meunier 4 collaborations

Dominique Prié 4 collaborations

Roman H Khonsari 4 collaborations

Mohamad Zaidan 3 collaborations

Laurent Chouchana 3 collaborations

Sandrine Marlin 3 collaborations

Roman Hossein Khonsari 3 collaborations

Katy Billot 3 collaborations

Nizar Mahlaoui 3 collaborations

Danielle Canioni 3 collaborations

Maël Heiblig 3 collaborations

Clément Gourguechon 3 collaborations

Philippe Guilpain 3 collaborations

Cristina Bulai-Livideanu 3 collaborations

Stéphane Barete 3 collaborations

Fabienne Brenet 3 collaborations

Richard Lemal 3 collaborations

Olivier Tournilhac 3 collaborations

Laurence Bouillet 3 collaborations

Ghandi Damaj 3 collaborations

Thomas Ballul 3 collaborations

Celine Greco 3 collaborations

Laurent Frenzel 3 collaborations

Cécile Meni 3 collaborations

Caroline Gaudy-Marqueste 3 collaborations

Marie Gousseff 3 collaborations

Edwige Le Mouel 3 collaborations

Antoine Neel 3 collaborations

Dana Ranta 3 collaborations

Roland Jaussaud 3 collaborations

Julie Bruneau 3 collaborations

Rose-Marie Javier 3 collaborations

Fabien Pelletier 3 collaborations

Florence Castelain 3 collaborations

Frederique Retornaz 3 collaborations

Quentin Cabrera 3 collaborations

Patricia Zunic 3 collaborations

Marie Pierre Gourin 3 collaborations

Ewa Wierzbicka-Hainaut 3 collaborations

Jean François Viallard 3 collaborations

Christian Lavigne 3 collaborations

Cyrille Hoarau 3 collaborations

Isabelle Durieu 3 collaborations

Sophie Dimicoli-Salazar 3 collaborations

Angèle Soria 3 collaborations

Michel Arock 3 collaborations

Ludovic Lhermitte 3 collaborations

Guillaume Dorval 3 collaborations

Laurène Dehoux 3 collaborations

Florence Lacaille 3 collaborations

Tommaso Lo Barco 3 collaborations

Marina Avramescu 3 collaborations

Nathalie Biebuyck 3 collaborations

Christophe Legendre 3 collaborations

Dany Anglicheau 3 collaborations

Alice Hadchouel 3 collaborations

Jean-François Hak 3 collaborations

Sandro Benichi 3 collaborations

Sarah Stricker 3 collaborations

Florent Gariel 3 collaborations

Quentin Alias 3 collaborations

Manoelle Kossorotoff 3 collaborations

Lorenzo Garzelli 3 collaborations

Thomas Blauwblomme 3 collaborations

Olivier Naggara 3 collaborations

Frédéric Rieux-Laucat 3 collaborations

Lisa Friedlander 3 collaborations

Tania Attie-Bitach 3 collaborations

Thomas Bouygues 3 collaborations

Alain Fischer 3 collaborations

Vincent Morinière 2 collaborations

Vincent Looten 2 collaborations

Guillaume Lezmi 2 collaborations

Arnaud Serret-Larmande 2 collaborations

Friederike Petzold 2 collaborations

Hassiba Bouktit 2 collaborations

Jose Miguel Torregrosa-Diaz 2 collaborations

Vahid Asnafi 2 collaborations

Bertrand Knebelmann 2 collaborations

Saoussen Krid 2 collaborations

Marion Rabant 2 collaborations

Christophe Chardot 2 collaborations

Sabine Sarnacki 2 collaborations

Caroline Michot 2 collaborations

Valerie Cormier-Daire 2 collaborations

François Gaillard 2 collaborations

Malik Touam 2 collaborations

Isabelle Pellier 2 collaborations

Yoann Martin 2 collaborations

Pauline Krug 2 collaborations

David Drummond 2 collaborations

Mathilde Grapin 2 collaborations

Nicolas Paris 2 collaborations

Marie Bourgeois 2 collaborations

Philippe Meyer 2 collaborations

Leonardo Campillos Llanos 2 collaborations

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William Digan 2 collaborations

Julien Husson 2 collaborations

Ariane Berdal 2 collaborations

Marine Madrange 2 collaborations

Mohamed Hamidou 2 collaborations

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Lucile Boutaud 2 collaborations

Pierre Corre 2 collaborations

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Eva Galliani 2 collaborations

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Manal Mazloum 2 collaborations

Rosy Tsopra 2 collaborations

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Giovanna Paternoster 2 collaborations

Annie Harroche 2 collaborations

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David Dawei Yang 2 collaborations

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