T. Hammer

发表

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

From next-generation sequencing to targeted treatment of non-acquired epilepsies

G. Rubboli, R. Møller, J. Lemke, 2019, Expert review of molecular diagnostics.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

H. Siebner, M. Považan, E. Petersen, 2023, Molecular genetics and metabolism.

An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal

D. V. van Aalten, A. Bayat, M. Stavridis, 2023, Disease models & mechanisms.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.

S. Sisodiya, J. Cross, A. Basu, 2021, Neurology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

Structural brain correlates of sensorimotor gating in antipsychotic-naive men with first-episode schizophrenia.

W. Baaré, B. Glenthøj, B. Oranje, 2013, Journal of psychiatry & neuroscience : JPN.

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

B. Castellotti, R. Møller, C. Gellera, 2020, Epilepsia.

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.

L. Lagae, R. Møller, K. Jansen, 2021, Neuropediatrics.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

P. Broser, Birgit Stark, H. Muhle, 2020, Biomedicines.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.

"Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?"

R. Møller, A. Bayat, C. Fenger, 2021, European journal of medical genetics.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

R. Møller, C. Wallgren‐Pettersson, M. Balasubramanian, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.