U. Kotzaeridou

发表

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

R. Eils, M. Schlesner, P. Bauer, 2015, Molecular and cellular probes.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

T. Meitinger, T. Strom, H. Prokisch, 2019, JIMD reports.

Rates and social patterning of household smoking and breastfeeding in contrasting European settings.

N. Spencer, U. Kotzaeridou, C. Mouratidis, 2005, Child: care, health and development.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

Expanded phenotype of AARS1-related white matter disease

A. Vanderver, R. Schiffmann, R. Carrozzo, 2021, Genetics in Medicine.

Child Neurology: PRRT2-associated movement disorders and differential diagnoses

C. Klein, U. Kotzaeridou, D. Ebrahimi-Fakhari, 2014, Neurology.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Michaela Frye, Richard Durbin, Holger Prokisch, 2016, Nature Communications.

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

T. Meitinger, T. Strom, R. Jech, 2021, Clinical genetics.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Roland Eils, Stefan Wiemann, Ute Moog, 2017, Molecular genetics and metabolism.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

Compound heterozygous SPATA 5 variants in four families and functional studies of SPATA 5 de fi ciency

T. Meitinger, T. Strom, R. Rodenburg, 2019 .

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

P. De Camilli, H. Cross, Matteo P. Ferla, 2021, Brain : a journal of neurology.

Outcome of severe unilateral cerebellar hypoplasia

T. Huisman, D. Prayer, C. Limperopoulos, 2009, Developmental medicine and child neurology.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

I. Katona, T. Hornemann, B. Schlotter-Weigel, 2017, Journal of neurochemistry.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

T. Meitinger, T. Strom, R. Rodenburg, 2018, European Journal of Human Genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

The genotypic and phenotypic spectrum of MTO1 deficiency

Robert W. Taylor, C. Ross, W. Wasserman, 2018, Molecular genetics and metabolism.

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

I. Harting, M. Bendszus, A. Poretti, 2011, American Journal of Neuroradiology.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

S. Gallati, A. Schaller, A. Haeberli, 2016, European Journal of Pediatrics.

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

I. Harting, T. Strom, V. Kalscheuer, 2020, Clinical genetics.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

C. Gieger, M. Waldenberger, A. Peters, 2021, Brain : a journal of neurology.

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study

E. Reischl, B. Koletzko, P. Burgard, 2018, Nutrients.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

P. J. van der Spek, J. Hoeijmakers, W. Vermeulen, 2017, Human molecular genetics.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

Atypical clinical presentation of a girl with episodic ataxia type II

L. Arning, F. Ebinger, N. Wolf, 2008 .

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

T. Meitinger, T. Strom, R. Rodenburg, 2018, European Journal of Human Genetics.

Epilepsy in children with congenital hemiplegia: correlation between clinical, EEG and neuroimaging findings.

A. Covanis, G. Arsos, U. Kotzaeridou, 2003, Epileptic disorders : international epilepsy journal with videotape.

Opus: University of Bath Online Publication Store Deficient Methylation and Formylation of Mt-trna Met Wobble Cytosine in a Patient Carrying Mutations in Nsun3

M. Minczuk, M. Frye, Y. Memari, 2022 .

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

P. Striano, F. Zara, M. Severino, 2023, Pediatric neurology.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.