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J

Julien Buratti

Assistance Publique - Hôpitaux de Paris and Sorbonne Université

25H-index
76Paper Count
2.4KCitation Count
Published Papers 43
Publication Date
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
errThe American Journal of Human Genetics
IF0
err2025-09-22
err0
PREAI
errJohnny Bou-Rouphael; Auriane Cospain; Thomas Courtin; Boris Keren; Corentine Marie; Marion Lesieur-Sebellin; Delphine Heron; Jean-Madeleine de Sainte Agathe; Solveig Heide; Elodie Lejeune; Chloe Quelin; François Lecoquierre; Mathilde Nizon; Bertrand Isidor; Thomas Besnard; Benjamin Cogne; Xenia Latypova; Jonathan Levy; Pascal Joset; Katharina Steindl; Maria Palomares-Bralo; Fernando Santos-Simarro; Mary Ann Thomas; Amina Abubakar; Sally Ann Lynch; Amelie J. Müller; Tobias B. Haack; Martin Zenker; Michael Parker; Emma Clossick; Michael Spiller; Renarta Crookes; Muriel Holder-Espinasse; Allan Bayat; Rikke S. Møller; Tomasz Stanislaw Mieszczanek; Pierre de la Grange; Julien Buratti; Pierre Marijon; Sabir Ataf; Ryan Gavin; Carlos Parras; Bassem A. Hassan; Cyril Mignot; Laïla El Khattabi
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errSave
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
errHUMAN GENOMICS
IF4.3
err2024-11-21
err0
errOAAI
errDahawi, Maha; Agathe, Jean-Madeleine de Sainte; Elmagzoub, Mohamed S.; Ahmed, Elhami A.; Buratti, Julien; Courtin, Thomas; Noe, Eric; Bogoin, Julie; Copin, Bruno; Elmugadam, Fatima A.; Abdelgadir, Wasma A.; Ahmed, Ahmed K. M. A.; Daldoum, Mohamed A.; Altayeb, Rayan Mamoon Ibrahim; Bashir, Mohamed; Khalid, Leena Mohamed; Gamil, Sahar; Baldassari, Sara; Elsayed, Liena; Keren, Boris; Nuel, Gregory; Ahmed, Ammar E.; Leguern, Eric
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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
errHUMAN GENETICS
IF3.6
err2024-10-04
err0
PREAI
errCogan, Guillaume; Zaki, Maha S.; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cecile; Gleeson, Joseph G.; Howarth, Robyn; Durr, Alexandra; Agathe, Jean-Madeleine de Sainte; Mignot, Cyril
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-05-27
err0
errOAAI
errViora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence
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Loss of function of ADNP by an intragenic inversion
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-24
err5
errOAAI
errGeorget, Mathieu; Lejeune, Elodie; Buratti, Julien; Servant, Euphrasie; le Guern, Eric; Heron, Delphine; Keren, Boris; Agathe, Jean-Madeleine de Sainte
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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
errHUMAN GENOMICS
IF4.3
err2023-02-10
err72
errOAAI
errAgathe, Jean-Madeleine de Sainte; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurelien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossee, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Elodie; Le Guern, Eric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Francoise; Cogne, Benjamin; Baux, David
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-12-01
err19
errOAAI
errParthasarathy, Shridhar; Ruggiero, Sarah McKeown; Gelot, Antoinette; Soardi, Fernanda C.; Ribeiro, Bethania F. R.; Pires, Douglas E., V; Ascher, David B.; Schmitt, Alain; Rambaud, Caroline; Represa, Alfonso; Xie, Hongbo M.; Lusk, Laina; Wilmarth, Olivia; McDonnell, Pamela Pojomovsky; Juarez, Olivia A.; Grace, Alexandra N.; Buratti, Julien; Mignot, Cyril; Gras, Domitille; Nava, Caroline; Pierce, Samuel R.; Keren, Boris; Kennedy, Benjamin C.; Pena, Sergio D. J.; Helbig, Ingo; Cuddapah, Vishnu Anand
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
errNATURE COMMUNICATIONS
IF15.7
err2022-11-02
err21
errOAAI
errLeitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
errGENETICS IN MEDICINE
IF6.2
err2022-10-01
err6
errOAAI
errHoltz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.
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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-08-01
err19
errOAAI
errVitobello, Antonio; Mazel, Benoit; Lelianova, Vera G.; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G.; Scott, Daryl A.; Chan, Katie M.; Rosenfeld, Jill A.; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Mau-Them, Frederic Tran; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K.; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andree; Agathe, Jean-Madeleine De Sainte; Buratti, Julien; Kozlov, Serguei, V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
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errSave
GM3 synthase deficiency in non-Amish patients
errGENETICS IN MEDICINE
IF6.2
err2022-02-01
err9
PREAI
errHeide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Schwartz, Charles E.; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Francoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gerard, Benedicte; Piton, Amelie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Perville, Anne; Heron, Delphine; Thevenon, Julien; Arnaud, Lionel; LeGuern, Eric; La Selva, Lorita; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril
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Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity
errHAEMATOLOGICA
IF7.9
err2021-12-02
err10
errOAAI
errMarin-Esteban, Viviana; Youn, Jenny; Beaupain, Blandine; Jaracz-Ros, Agnieszka; Barlogis, Vincent; Fenneteau, Odile; Leblanc, Thierry; Bellanger, Florence; Pellet, Philippe; Buratti, Julien; Lapillonne, Helene; Bachelerie, Francoise; Donadieu, Jean; Bellanne-Chantelot, Christine
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PURA-Related Developmental and Epileptic Encephalopathy
errNEUROLOGY-GENETICS
IF3.7
err2021-12-01
err26
errOAAI
errJohannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
errGENETICS IN MEDICINE
IF6.2
err2021-09-01
err29
errOAAI
errDworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko
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Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-04-02
err9
errOAAI
errAubert Mucca, Marion; Patat, Olivier; Whalen, Sandra; Arnaud, Lionel; Barcia, Giulia; Buratti, Julien; Cogne, Benjamin; Doummar, Diane; Karsenty, Caroline; Kenis, Sandra; Leguern, Eric; Lesca, Gaetan; Nava, Caroline; Nizon, Mathilde; Piton, Amelie; Valence, Stephanie; Villard, Laurent; Weckhuysen, Sarah; Keren, Boris; Mignot, Cyril
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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism
errHUMAN MUTATION
IF3.7
err2021-01-28
err9
errOAAI
errSaint-Martin, Cecile; Cauchois-Le Miere, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean-Baptiste; Buratti, Julien; Bouvet, Delphine; Frebourg, Thierry; Gaildrat, Pascaline; Shyng, Show-Ling; Bellanne-Chantelot, Christine; Martins, Alexandra
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)
errNATURE GENETICS
IF31.8
err2021-01-11
err1
errOAAI
errJin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; Lopez-Giraldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
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Congenital immobility and stiffness related to biallelic ATAD1 variants
errNEUROLOGY-GENETICS
IF3.7
err2020-12-01
err6
errOAAI
errBunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michele; Rodriguez, Diana; Burglen, Lydie; Leger, Pierre-Louis; Kieffer, Francois; Martin, Isabelle; Heron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Alexandra; de Villemeur, Thierry Billette; Mignot, Cyril
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errSave

Research Directions

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S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
R
Richard P. Lifton
H-index: 150 · Papers: 571
S
Samuel F. Berkovic
H-index: 145 · Papers: 1.1K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
C
Christopher Gillberg
H-index: 138 · Papers: 1.0K
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