A
Alain Verloes
Researcher at University of Paris
Publications - 464
Citations - 21574
Alain Verloes is an academic researcher from University of Paris. The author has contributed to research in topics: Microcephaly & Noonan syndrome. The author has an hindex of 73, co-authored 450 publications receiving 19231 citations. Previous affiliations of Alain Verloes include Institut Universitaire de France & Max Planck Society.
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Journal ArticleDOI
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet,Thomas Rolland,Marie Ducloy,Jonathan M. Levy,Julien Buratti,Alexandre Mathieu,Damien Haye,Laurence Perrin,Céline Dupont,Sandrine Passemard,Yline Capri,Alain Verloes,Séverine Drunat,Boris Keren,Cyril Mignot,Isabelle Marey,Aurélia Jacquette,Sandra Whalen,Eva Pipiras,Brigitte Benzacken,Sandra Chantot-Bastaraud,Alexandra Afenjar,Delphine Héron,Cédric Le Caignec,Claire Beneteau,Olivier Pichon,Bertrand Isidor,Albert David,Laila El Khattabi,Stephan Kemeny,Laetitia Gouas,Philippe Vago,Anne-Laure Mosca-Boidron,Laurence Faivre,Chantal Missirian,Nicole Philip,Damien Sanlaville,Patrick Edery,Véronique Satre,Charles Coutton,Françoise Devillard,Klaus Dieterich,Marie-Laure Vuillaume,Caroline Rooryck,Didier Lacombe,Lucile Pinson,Vincent Gatinois,Jacques Puechberty,Jean Chiesa,James Lespinasse,Christèle Dubourg,Chloé Quélin,Mélanie Fradin,Hubert Journel,Annick Toutain,Dominique Martin,Abdelamdjid Benmansour,Claire S. Leblond,Roberto Toro,Frédérique Amsellem,Richard Delorme,Thomas Bourgeron +61 more
TL;DR: Light is shed on the genotype-phenotype relationship of patients with Phelan-McDermid syndrome, a step towards the identification of compensatory mechanisms for a better prognosis and possibly treatments of Patients with neurodevelopmental disorders.
Journal ArticleDOI
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
Aimé Lumaka,Nele Cosemans,A Lulebo Mampasi,Gerrye Mubungu,Nono Mvuama,Toni Kasole Lubala,Sébastien Mbuyi-Musanzayi,Jeroen Breckpot,Maureen Holvoet,T.J.L. de Ravel,G Van Buggenhout,Hilde Peeters,Dian Donnai,Leon Mutesa,Alain Verloes,P. Lukusa Tshilobo,Koenraad Devriendt +16 more
TL;DR: In this paper, the authors evaluated the ability to interpret facial morphology in African children with intellectual disability (ID) by using FDNA Face2Gene solution to assess Down Syndrome (DS) faces.
Journal ArticleDOI
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat,Pascal Joset,Katharina Steindl,Beatrice Oneda,Laura Gogoll,Silvia Azzarello-Burri,Frenny Sheth,Chaitanya Datar,Ishwar C. Verma,Ratna Dua Puri,Marcella Zollino,Ruxandra Bachmann-Gagescu,Dunja Niedrist,Michael Papik,Joana Figueiro-Silva,Rahim Masood,Markus Zweier,Dennis Kraemer,Sharyn A. Lincoln,Lance H. Rodan,Sandrine Passemard,Séverine Drunat,Alain Verloes,Anselm H. C. Horn,Heinrich Sticht,Robert Steinfeld,Barbara Plecko,Barbara Plecko,Beatrice Latal,Oskar G. Jenni,Reza Asadollahi,Anita Rauch +31 more
TL;DR: In this article, the clinical and genetic landscape of an unselected cohort of patients with microcephaly was comprehensively studied, and novel candidate genes involved in centrosome-related pathway (SPAG5, TEDC1), Wnt signaling (VPS26A, ZNRF3), and RNA trafficking (DDX1) were identified.
Journal ArticleDOI
Infantile autophagic vacuolar myopathy is distinct from Danon disease
A. Yamamoto,Y. Morisawa,Alain Verloes,Nobuyuki Murakami,Michio Hirano,Ikuya Nonaka,Ichizo Nishino +6 more
TL;DR: Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.
Journal ArticleDOI
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh,Tzung-Chien Hsieh,Martin A. Mensah,Jean Tori Pantel,Jean Tori Pantel,Dione Aguilar,Omri Bar,Allan Bayat,Luis Becerra-Solano,Heidi Beate Bentzen,Saskia Biskup,Oleg V. Borisov,Øivind Braaten,Claudia Ciaccio,Marie Coutelier,Kirsten Cremer,Magdalena Danyel,Svenja Daschkey,Hilda David Eden,Koenraad Devriendt,Sandra Wilson,Sofia Douzgou,Sofia Douzgou,Dejan Đukić,Nadja Ehmke,Christine Fauth,Björn Fischer-Zirnsak,Nicole Fleischer,Heinz Gabriel,Luitgard Graul-Neumann,Karen W. Gripp,Yaron Gurovich,Asya Gusina,Nechama Haddad,Nurulhuda Hajjir,Yair Hanani,Jakob Hertzberg,Konstanze Hoertnagel,Janelle Howell,Ivan Ivanovski,Angela M. Kaindl,Tom Kamphans,Susanne B. Kamphausen,Catherine Karimov,Hadil Kathom,Anna Keryan,Alexej Knaus,Sebastian Köhler,Uwe Kornak,Alexander Lavrov,Maximilian Leitheiser,Gholson J. Lyon,Elisabeth Mangold,Purificación Marín Reina,Antonio Martinez Carrascal,Diana Mitter,Laura Morlan Herrador,Guy Nadav,Markus M. Nöthen,Alfredo Orrico,Claus-Eric Ott,Kristen Park,Borut Peterlin,Laura Pölsler,Annick Raas-Rothschild,Linda M. Randolph,Nicole Revencu,Christina Fagerberg,Peter N. Robinson,Stanislav Rosnev,Sabine Rudnik,Gorazd Rudolf,Ulrich A. Schatz,Anna Schossig,Max Schubach,Or Shanoon,Eamonn Sheridan,Pola Smirin-Yosef,Malte Spielmann,Eun Kyung Suk,Yves Sznajer,Christian Thiel,Gundula Thiel,Alain Verloes,Irena Vrecar,Dagmar Wahl,Ingrid Weber,Korina Winter,Marzena Wiśniewska,Bernd Wollnik,Ming W. Yeung,Max Zhao,Na Zhu,Johannes Zschocke,Stefan Mundlos,Denise Horn,Peter Krawitz +96 more
TL;DR: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.