Trine Bjørg Hammer - Department of Clinical Genetics, Copenhagen University Hospital

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论文共 41 篇作者统计合作学者相似作者

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Clinical Features and Genotype-Phenotype Correlations in Epilepsy Patients with De Novo DYNC1H1 Variants

Claudia Cuccurullo,Emanuele Cerulli Irelli,Lorenzo Ugga,Antonella Riva,Alessandra D'Amico,Sara Cabet,Gaetan Lesca,Leonilda Bilo,Federico Zara,Catrinel Iliescu,Diana Barca,France Fung,Katherine Helbig,Xilma Ortiz-Gonzalez,Helenius J. Schelhaas,Marjolein H. Willemsen,Inge van der Linden,Laura Canafoglia,Carolina Courage, Samuele Gommaraschi,Pedro Gonzalez-Alegre,Tanya Bardakjian,Steffen Syrbe,Elisabeth Schuler,Johannes R. Lemke,Stella Vari, Gitte Roende,Mads Bak, Mahbulul Huq,Zoe Powis,Katrine M. Johannesen,Trine Bjorg Hammer,Rikke S. Moller,Rachel Rabin,John Pappas,Mary L. Zupanc,Neda Zadeh,Julie Cohen,Sakkubai Naidu,Ilona Krey,Russell Saneto,Jenny Thies,Laura Licchetta,Paolo Tinuper,Francesca Bisulli,Raffaella Minardi,Allan Bayat,Nathalie Villeneuve,Florence Molinari,Hormos Salimi Dafsari, Birk Moller, Marie Le Roux,Clara Houdayer,Marilena Vecchi,Isabella Mammi,Elena Fiorini,Jacopo Proietti, Sofia Ferri,Gaetano Cantalupo,Domenica Immacolata Battaglia,Maria Luigia Gambardella,Ilaria Contaldo,Claudia Brogna,Marina Trivisano,Angela De Dominicis,Stefania Maria Bova,Elena Gardella,Pasquale Striano,Antonietta Coppola

Epilepsia（2024）

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Expanding the Phenotype and Genotype Spectrum of TAOK1 Neurodevelopmental Disorder and Delineating TAOK2 Neurodevelopmental Disorder

Nour Elkhateeb, Renarta Crookes, Michael Spiller,Lisa Pavinato,Flavia Palermo,Alfredo Brusco,Michael Parker,Soo-Mi Park, Ariana Costa Mendes, Jorge M. Saraiva,Trine Bjørg Hammer, Lusine Nazaryan-Petersen,Tahsin Stefan Barakat,Martina Wilke,Elizabeth Bhoj,Rebecca C. Ahrens-Nicklas,Dong Li,Tomoki Nomakuchi,Eva H. Brilstra,David Hunt

Genetics in Medicine（2024）

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X-linked Creatine Transporter Deficiency (SLC6A8): an Underdiagnosed Disease in Females with Intellectual Disability

Malene Mejdahl Nielsen,Esben Thade Petersen,Christina Duhring Fenger,Mette Cathrine Orngreen,Hartwig R. Siebner,Vincent Oltman Boer,Michal Povazan,Allan Lund,Sabine Gronborg,Trine Bjorg Hammer

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 427-428

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The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAno. 12 (2024): e2317601121-e2317601121

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Seizure and Movement Disorder in CACNA1E Developmental and Epileptic Encephalopathy: Two Sides of the Same Coin or Same Side of Two Different Coins

Valentina Di Micco, Leonardo Affronte, Marianne Sondergaard Khinchi,Gitte Ronde,Maria Jose Miranda,Trine Bjorg Hammer,Nicola Specchio,Sandor Beniczky,Kern Olofsson,Rikke S. Moller,Elena Gardella

Epileptic Disorders（2024）

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The Spectrum of Heart Defects in the TRAF7 -Related Multiple Congenital Anomalies-Intellectual Disability Syndrome

Proceedings of the National Academy of Sciences of the United States of Americano. 12 (2024)

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An O-GlcNAc Transferase Pathogenic Variant Linked to Intellectual Disability Affects Pluripotent Stem Cell Self-Renewal

Michaela Omelkova,Christina Duhring Fenger,Marta Murray,Trine Bjorg Hammer,Veronica M. Pravata,Sergio Galan Bartuai,Ignacy Czajewski,Allan Bayat,Andrew T. Ferenbach,Marios P. Stavridis,Daan M. F. van Aalten

DISEASE MODELS & MECHANISMSno. 6 (2023)

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X-linked Creatine Transporter (SLC6A8) Deficiency in Females: Difficult to Recognize, but a Potentially Treatable Disease

Malene Mejdahl Nielsen,Esben Thade Petersen,Christina Duhring Fenger,Mette Cathrine Orngreen,Hartwig Roman Siebner,Vincent Oltman Boer,Michal Povaz,Allan Lund,Sabine Weller Gronborg,Trine Bjorg Hammer

Molecular Genetics and Metabolism（2023）

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Deep Phenotyping of the Neuroimaging and Skeletal Features in KBG Syndrome: a Study of 53 Patients and Review of the Literature

Francesca Peluso,Stefano G. Caraffi,Gianluca Contro,Lara Valeri,Manuela Napoli, Giorgia Carboni,Alka Seth,Roberta Zuntini,Emanuele Coccia,Guja Astrea,Anne-Marie Bisgaard,Ivan Ivanovski,Silvia Maitz,Elise Brischoux-Boucher,Melissa T. Carter,Maria Lisa Dentici,Koenraad Devriendt,Melissa Bellini,Maria Cristina Digilio,Asif Doja,David A. Dyment,Stense Farholt,Carlos R. Ferreira,Lynne A. Wolfe,William A. Gahl,Maria Gnazzo,Himanshu Goel,Sabine Weller Gronborg,Trine Hammer,Lorenzo Iughetti,Tjitske Kleefstra,David A. Koolen,Francesca Romana Lepri,Gabrielle Lemire,Pedro Louro,Gary McCullagh,Simona F. Madeo,Annarita Milone,Roberta Milone,Jens Erik Klint Nielsen,Antonio Novelli,Charlotte W. Ockeloen,Rosario Pascarella,Tommaso Pippucci,Ivana Ricca,Stephen P. Robertson,Sarah Sawyer,Marie Falkenberg Smeland,Sander Stegmann,Constanze T. Stumpel,Amy Goel,Juliet M. Taylor,Domenico Barbuti,Annarosa Soresina,Maria Francesca Bedeschi,Roberta Battini,Anna Cavalli,Carlo Fusco,Maria Iascone,Lionel Van Maldergem,Sunita Venkateswaran,Orsetta Zuffardi,Samantha Vergano,Livia Garavelli,Allan Bayat

Journal of medical genetics（2023）

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