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G

Guillaume Smits

center of human genetics

34H指数
125论文数
1.1W被引数
收录论文 47
发表时间
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Ten years of clinical and genotypic insights from the Brussels children’s hospital Centre Ressource Autisme: a multidimensional analysis of 1000 autistic patients布鲁塞尔儿童医院自闭症资源中心十年临床和基因型洞察：1000例自闭症患者的多维分析
errMolecular Autism
IF5.5
err2026-08-21
err0
errOAAI
errPauline Dacremont-Rodriguez; Nicolas Deconinck; Catheline Vilain; Liliane Chiodo; Jessica Sztalberg; Phillip Hoffmann; Lesley Ducenne; Sophie Carlier; Véronique Delvenne; Guillaume Smits
err分享
err收藏
Early Severe Pseudomonas Infections Revealing MyD88 Deficiency in Two Siblings: A Case Report早期严重铜绿假单胞菌感染揭示两同胞中MyD88缺陷：病例报告
errCase Reports in Immunology
IF1.5
err2026-01-01
err0
errOAAI
errBelenger, Louise; Kornreich, Laure; Mignon, Celine; Smits, Guillaume; Vandernoot, Isabelle; Devalck, Christine
err分享
err收藏
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-06-05
err3
errOAAI
errFreitas, Marta Baptista; Desmyter, Laurence; Badoer, Cindy; Smits, Guillaume; Vandernoot, Isabelle; de Roodenbeke, Daphne t'Kint
err分享
err收藏
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
errNATURE GENETICS
IF31.8
err2024-05-07
err3
PREAI
errGrasberger, Helmut; Dumitrescu, Alexandra M.; Liao, Xiao-Hui; Swanson, Elliott G.; Weiss, Roy E.; Srichomkwun, Panudda; Pappa, Theodora; Chen, Junfeng; Yoshimura, Takashi; Hoffmann, Phillip; Franca, Monica Malheiros; Tagett, Rebecca; Onigata, Kazumichi; Costagliola, Sabine; Ranchalis, Jane; Vollger, Mitchell R.; Stergachis, Andrew B.; Chong, Jessica X.; Bamshad, Michael J.; Smits, Guillaume; Vassart, Gilbert; Refetoff, Samuel
err分享
err收藏
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
errJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
IF11.8
err2024-05-01
err0
PREAI
errSalik, Deborah; Marangoni, Martina; Dangoisse, Chantal; Richert, Bertrand; Smits, Guillaume
err分享
err收藏
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
errHUMAN GENETICS
IF3.6
err2023-10-27
err3
errOAAI
errGiuili, Edoardo; Grolaux, Robin; Macedo, Catarina Z. N. M.; Desmyter, Laurence; Pichon, Bruno; Neuens, Sebastian; Vilain, Catheline; Olsen, Catharina; Van Dooren, Sonia; Smits, Guillaume; Defrance, Matthieu
err分享
err收藏
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-01-01
err11
errOAAI
errPapadimitriou, Sofia; Gravel, Barbara; Nachtegael, Charlotte; De Baere, Elfride; Loeys, Bart; Vikkula, Miikka; Smits, Guillaume; Lenaerts, Tom
err分享
err收藏
Identification of differentially methylated regions in rare diseases from a single-patient perspective
errCLINICAL EPIGENETICS
IF4.4
err2022-12-16
err6
errOAAI
errGrolaux, Robin; Hardy, Alexis; Olsen, Catharina; Van Dooren, Sonia; Smits, Guillaume; Defrance, Matthieu
err分享
err收藏
Clinical and molecular diagnosis of genodermatoses: Review and perspectives
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2022-12-11
err5
PREAI
errSalik, Deborah; Richert, Bertrand; Smits, Guillaume
err分享
err收藏
Genetic testing in autoinflammatory diseases - past, current and future perspectives自身炎症性疾病的基因检测-过去，现在和未来的观点
errEUROPEAN JOURNAL OF INTERNAL MEDICINE
IF6.1
err2022-12-01
err4
PREAI
errLe Goueff, Anouk; Smits, Guillaume; Delaunoy, Melanie; Vandernoot, Isabelle; Vandergheynst, Frederic
err分享
err收藏
Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts
errOBSTETRICAL & GYNECOLOGICAL SURVEY
IF3.6
err2022-08-01
err0
errOAAI
errMarangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle
err分享
err收藏
Comparative study of keratinocyte primary culture methods from paediatric skin biopsies for RNA-sequencing用于RNA测序的儿科皮肤活检的角质形成细胞原代培养方法的比较研究
errEXPERIMENTAL DERMATOLOGY
IF3.1
err2022-07-31
err1
PREAI
errSalik, Deborah; El Kaderi, Yousra; Hans, Christine; Lefort, Anne; Libert, Frederick; Smits, Guillaume
err分享
err收藏
Variable expressivity in Buschke-Ollendorff syndrome
errANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
IF2.8
err2022-06-01
err3
PREAI
errSalik, D.; Dupire, G.; Sass, U.; Dangoisse, C.; Franck, D.; Labadens, A.; Marangoni, M.; Vilain, C.; Smits, G.
err分享
err收藏
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database
errDATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
IF3.6
err2022-04-12
err17
errOAAI
errNachtegael, Charlotte; Gravel, Barbara; Dillen, Arnau; Smits, Guillaume; Nowe, Ann; Papadimitriou, Sofia; Lenaerts, Tom
err分享
err收藏
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts胎儿临床外显子组测序的实施: 前瞻性和回顾性队列的比较
errGENETICS IN MEDICINE
IF6.2
err2022-02-01
err17
errOAAI
errMarangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle
err分享
err收藏
Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review
errFRONTIERS IN MEDICINE
IF3
err2021-12-10
err5
errOAAI
errGambino, Giuseppe; Catalano, Concetta; Marangoni, Martina; Geers, Caroline; Moine, Alain Le; Boon, Nathalie; Smits, Guillaume; Ghisdal, Lidia
err分享
err收藏
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
errGENETICS IN MEDICINE
IF6.2
err2021-06-01
err81
errOAAI
errVan den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bours, Vincent; De Leener, Anne; De Rademaeker, Marjan; Desir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Katrien; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Bjorn; Meunier, Colombine; Palmeira, Leonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris Robert
err分享
err收藏
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
errOBSTETRICS AND GYNECOLOGY
IF4.7
err2021-05-04
err12
errOAAI
errvan Riel, Margot; Brison, Nathalie; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bulk, Saskia; De Leener, Anne; Desir, Julie; Devriendt, Koenraad; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Sandra; Khudashvili, Nairi; Lannoo, Lore; Marichal, Axel; Meunier, Colombine; Palmeira, Leonor; Parijs, Ilse; Pichon, Bruno; Roets, Ellen; Sammels, Eva; Smits, Guillaume; Suenaert, Marion; Sznajer, Yves; Van den Bogaert, Kris; Vancoillie, Leen; Vandeputte, Lotte; Vantroys, Elise; Vermeesch, Joris Robert; Janssens, Katrien
err分享
err收藏
Distinct antibody repertoires against endemic human coronaviruses in children and adults
errJCI INSIGHT
IF6.1
err2021-01-26
err44
errOAAI
errKhan, Taushif; Rahman, Mahbuba; Al Ali, Fatima; Huang, Susie S. Y.; Ata, Manar; Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Jouanguy, Emmanuelle; Beziat, Vivien; Cobat, Aurelie; Nasrallah, Gheyath K.; Yassine, Hadi M.; Smatti, Maria K.; Saeed, Amira; Vandernoot, Isabelle; Goffard, Jean-Christophe; Smits, Guillaume; Migeotte, Isabelle; Haerynck, Filomeen; Meyts, Isabelle; Abel, Laurent; Casanova, Jean-Laurent; Hasan, Mohammad R.; Marr, Nico
err分享
err收藏
Unraveling heteroplasmy patterns with NOVOPlasty
errgenomics proteomics bioinformatics
IF2.8
err2019-10-24
err45
errOAAI
errDierckxsens, Nicolas; Mardulyn, Patrick; Smits, Guillaume
err分享
err收藏

研究方向

暂无研究方向
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