Sarah Baer

Hôpitaux Universitaires de Strasbourg

H指数:14

被引数:521

个人简介

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荣誉奖项

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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

RNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。

Nature Genetics

IF29

2026-04-080

OAAI

Rocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

snRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异

Nature Genetics

IF29

2026-03-300

OAAI

Elsa 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

Genome region aware CADD thresholds for noncoding variant prioritization

基因组区域感知的CADD阈值用于非编码变异的优先排序

NAR GENOMICS AND BIOINFORMATICS

IF2.8

2025-12-010

OAAI

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A功能丧失性变异会增加早发性精神分裂症及其他精神疾病的风险，并可能实现精准治疗。

Molecular Psychiatry

IF10.1

2025-10-140

Johannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function

癫痫发作期间心搏停止：一例由FGF12致病性变异导致的难治性癫痫持续状态患者的病例，提醒需监测心脏功能

Clinical Genetics

IF2.3

2025-07-100

OAAI

Levetiracetam Versus Fosphenytoin Infusions as Second-Line Treatment for Pediatric Status Epilepticus: A Multicenter Study Examining Effectiveness, Tolerability, and Ease of Use

左乙拉西坦与磷苯妥英输注作为儿童癫痫持续状态的二线治疗：一项评估其有效性、耐受性及使用便捷性的多中心研究

Pediatric Drugs

IF3.3

2025-07-070

PRE

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput SequencingdA Multicenter Cohort Study

PEDIATRIC NEUROLOGY

IF2.1

2024-10-010

PRE

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

EBIOMEDICINE

IF10.8

2024-08-013

OAAI

Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiaer; Liao, Vivian Wan Yu; Chua, Han Chow; Rosa, Sebastian Ortiz de la; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stephane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroo, Reza; Lemke, Johannes R.; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A.; Absalom, Nathan L.; Moller, Rikke Steensbjerre

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-06-271

PRE

Thomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stephane; Leheup, Bruno; Genevieve, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylene; Becker, Aurelie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaelle; Devillard, Francoise; Schaefer, Elise; Baer, Sarah; Piton, Amelie; Gerard, Benedicte; Vincent, Marie; Nizon, Mathilde; Cogne, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frederic; Alessandri, Jean-Luc; Lebrun, Marine; Quelin, Chloe; Odent, Sylvie; Dubourg, Christele; David, Veronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Elise; Afenjar, Alexandra; Julia, Sophie; Bieth, Eric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, Francois; Nicolas, Gael; Charbonnier, Camille; Martin, Anne De Saint; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valerie; Oussalah, Abderrahim; Pourie, Carine; Lambert, Laetitia; Bonnet, Celine

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

ANK2功能丧失变体与癫痫相关，并导致hiPSC衍生的神经元网络中轴突初始节段可塑性受损和过度活跃的网络活动

HUMAN MOLECULAR GENETICS

IF3.2

2023-05-178

OAAI

Teunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael Nadif

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions

隐性NUP54变异是纹状体病变的早发性肌张力障碍的基础

ANNALS OF NEUROLOGY

IF7.7

2022-11-188

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation

EPILEPSIA

IF6.6

2022-08-1344

OAAI

Maillard, Pierre-Yves; Baer, Sarah; Schaefer, Elise; Desnous, Beatrice; Villeneuve, Nathalie; Lepine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amelie; Porter, Louise Frances; Perriard, Caroline; Warde, Marie-Therese Abi; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaetan; Putoux, Audrey; Ville, Dorothee; Mignot, Cyril; Heron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlene; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Veronique; Patat, Olivier; Lefranc, Jeremie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; De Saint Martin, Anne; Milh, Mathieu

Diagnostic and severity scores for Cockayne syndrome

Cockayne综合征的诊断和严重程度评分

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-02-0317

OAAI

Sarah Baer

个人简介

教育背景

工作经历

荣誉奖项

研究方向