Publications by authors named "Trine B Hammer"

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GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.
Johannes R Lemke, Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Trine B Hammer

Mol Psychiatry· January 2026

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Diagnostic yield of whole exome sequencing in a cohort of 825 patients.
Peter Førster Andersen, Jakob Ek, Helena Gásdal Karstensen, Mads Bak, Sabine Weller Grønborg, Trine Bjørg Hammer

Eur J Med Genet· December 2025

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-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks: A Review and Description of the First Missense Variant.
Sopio Gverdtsiteli, Trine Bjørg Hammer, Xenia Hermann, Noemi Becser Andersen, David Ros-Pardo

Genes (Basel)· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Trine Bjørg Hammer

medRxiv· September 2025

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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam, Trine Bjørg Hammer

Eur J Hum Genet· July 2025

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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, Trine Bjørg Hammer

Genet Med· March 2025

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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, Trine Bjørg Hammer

Epilepsia· September 2024

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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 Søndergaard Khinchi, Gitte Rønde, Maria Jose Miranda, Trine Bjørg Hammer

Epileptic Disord· August 2024

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Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Valentina Cetica, Tiziana Pisano, Gaetan Lesca, Dana Marafi, Laura Licchetta, Trine B Hammer

Epilepsia· May 2024

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The spectrum of heart defects in the -related multiple congenital anomalies-intellectual disability syndrome.
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Trine Bjørg Hammer

Proc Natl Acad Sci U S A· March 2024

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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Dorte L Lildballe, Anja Lisbeth Frederiksen, Bitten Schönewolf-Greulich, Charlotte Brasch-Andersen, Charlotte Kvist Lautrup, Sophia Hammer-Hansen, Trine Bjørg Hammer

Eur J Med Genet· December 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 Dühring Fenger, Mette Cathrine Ørngreen, Hartwig Roman Siebner, Trine Bjørg Hammer

Mol Genet Metab· November 2023

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IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Elena Gardella, Roberto Michelucci, Hanne M Christensen, Christina D Fenger, Chiara Reale, Trine B Hammer

Epilepsia· August 2023

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An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal.
Michaela Omelková, Christina Dühring Fenger, Marta Murray, Trine Bjørg Hammer, Veronica M Pravata

Dis Model Mech· June 2023

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Trine Bjørg Hammer

Brain· April 2023

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Involvement of Mitochondrial Dysfunction in Syndrome.
Victoria A Bjerregaard, Amanda M Levy, Mille S Batz, Ravina Salehi, Mathis Hildonen, Trine B Hammer

Genes (Basel)· January 2023

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Trine B Hammer

Clin Genet· August 2022

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Trine B Hammer

Brain· August 2022

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[Genetic testing in autism spectrum disorder].
Janni Majgaard Jensen, Ulla Schierup Nielsen, Allan Bayat, Malene Bøgehus Rasmussen, Rikke Steensbjerre Møller, Trine Bjørg Hammer

Ugeskr Laeger· August 2022

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Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
Claudia M Bonardi, Allan Bayat, Camilla Gøbel Madsen, Trine B Hammer, Chiara Reale

Epileptic Disord· June 2022

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[Genetic factors provide individualised targeted treatment of epilepsy].
Katrine M Johannesen, Allan Bayat, Trine Bjørg Hammer, Rikke S Møller

Ugeskr Laeger· June 2022

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DNA methylation episignature in Gabriele-de Vries syndrome.
Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley McConkey, Trine Bjørg Hammer

Genet Med· April 2022

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SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
Jo Sourbron, Katrien Jansen, Davide Mei, Trine Bjørg Hammer, Rikke S Møller

Neuropediatrics· February 2022

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Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Trine Bjørg Hammer

Eur J Med Genet· September 2021

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Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
Cathrine E Gjerulfsen, Rikke S Møller, Christina D Fenger, Trine B Hammer, Allan Bayat

Eur J Med Genet· July 2021

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