Ivon Cuscó

Sant Pau Research Institute

H指数:31

被引数:2,927

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Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study

将孕前携带者筛查纳入公共卫生：来自试点实施研究的经验教训

Journal of Assisted Reproduction and Genetics

IF2.7

2026-05-040

OAAI

Diagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy

染色体微阵列和虚拟靶向基因-panel分析在局灶性癫痫成人中的诊断效率：对序贯基因检测策略的启示

Seizure: European Journal of Epilepsy

IF0

2026-02-250

PRE

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

作者更正: 人纤毛蛋白RSG1将CPLANE复合物与过渡区结构联系起来

Nature Communications

IF15.7

2026-02-020

OAAI

Neftalí Vazquez; Chanjae Lee; Irene Valenzuela; Thao P. Phan; Camille Derderian; Marcelo Chávez; Nancie A. Mooney; Janos Demeter; Mohammad Ovais Aziz-Zanjani; Ivon Cusco; Marta Codina; Núria Martínez-Gil; Diana Valverde; Carlos Solarat; Ange-Line Bruel; Cristel Thauvin-Robinet; Elisabeth Steichen; Isabel Filges; Pascal Joset; Julie De Geyter; Krishna Vaidyanathan; Tynan P. Gardner; Michinori Toriyama; Edward M. Marcotte; Kevin Drew; Elle C. Roberson; Peter K. Jackson; Jeremy F. Reiter; Eduardo F. Tizzano; John B. Wallingford

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis

肌萎缩侧索硬化患者ARPP21致病突变的鉴定

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2024-07-021

PRE

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals

HUMAN GENETICS

IF3.6

2023-12-209

PRE

Schmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

GENETICS IN MEDICINE

IF6.2

2023-11-014

OAAI

Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

使用先证者的单例外显子组测序作为近亲夫妇的孕前携带者筛查方法的经验

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-12-083

PRE

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

E3泛素连接酶衔接子KLHL20中的De novo错义变体导致发育障碍，包括智力障碍，癫痫和自闭症谱系障碍

GENETICS IN MEDICINE

IF6.2

2022-12-013

PRE

Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-11-292

PRE

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

GENETICS IN MEDICINE

IF6.2

2022-08-0114

OAAI

Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

HUMAN MUTATION

IF3.7

2021-04-0632

OAAI

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

NEUROLOGY-GENETICS

IF3.7

2020-12-0140

OAAI

Defective minor spliceosomem RNA processing results in isolated familial growth hormone deficiency (vol 12, e13133, 2020)

EMBO MOLECULAR MEDICINE

IF8.3

2020-09-072

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

HUMAN MOLECULAR GENETICS

IF3.2

2020-07-0316

OAAI

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-05-1416

OAAI

Lehalle, Daphne; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogne, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpeleg, Orly; Fattal, Aviva; Genevieve, David; Guillen Sacoto, Maria J.; Guimier, Anne; Harris, David J.; Hempel, Maja; Isidor, Bertrand; Jouan, Thibaud; Kuentz, Paul; Koshimizu, Eriko; Lichtenbelt, Klaske; Loik Ramey, Valerie; Maik, Miriam; Miyakate, Sakoto; Murakami, Yoshiko; Pasquier, Laurent; Pedro, Helio; Simone, Laurie; Sondergaard-Schatz, Krista; St-Onge, Judith; Thevenon, Julien; Valenzuela, Irene; Abou Jamra, Rami; van Gassen, Koen; van Haelst, Mieke M.; van Koningsbruggen, Silvana; Verdura, Edgard; Whelan Habela, Christa; Zacher, Pia; Riviere, Jean-Baptiste; Thauvin-Robinet, Christel; Betschinger, Joerg; Faivre, Laurence

X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain)

在关键样本亲子鉴定案例中进行x-indels功效评估: 来自坎波辛斯纪念馆 (西班牙塔拉戈纳) 的西班牙内战案例

FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES

IF0.5

2019-12-013

OAAI

Reply to Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

ANNALS OF NEUROLOGY

IF7.7

2019-10-030

PREAI

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings