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Tobias Bartolomaeus
Tobias Bartolomaeus
Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig
Verified email at medizin.uni-leipzig.de - Homepage
Title
Cited by
Cited by
Year
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ...
Genetics in Medicine 23 (8), 1492-1497, 2021
402021
Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations
DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ...
The American Journal of Human Genetics 107 (4), 727-742, 2020
272020
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood
S Zagaglia, D Steel, S Krithika, L Hernandez-Hernandez, HM Custodio, ...
Neurology 96 (11), e1539-e1550, 2021
172021
De novo variants in ATP2B1 lead to neurodevelopmental delay
MJ Rahimi, N Urban, M Wegler, H Sticht, M Schaefer, B Popp, F Gaunitz, ...
The American Journal of Human Genetics 109 (5), 944-952, 2022
142022
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D Lehalle, P Vabres, A Sorlin, T Bierhals, M Avila, V Carmignac, ...
Journal of medical genetics 57 (12), 808-819, 2020
142020
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
T Bartolomaeus, J Hentschel, RA Jamra, B Popp
European Journal of Human Genetics 31 (10), 1154-1164, 2023
102023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
MS Paul, AR Duncan, CA Genetti, H Pan, A Jackson, PE Grant, J Shi, ...
The American Journal of Human Genetics 110 (1), 120-145, 2023
102023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ...
Genetics in Medicine 25 (1), 76-89, 2023
82023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders
I Halfmeyer, T Bartolomaeus, B Popp, M Radtke, T Helms, J Hentschel, ...
Genes 14 (1), 30, 2022
62022
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
S Neuser, I Krey, A Schwan, R Abou Jamra, T Bartolomaeus, J Döring, ...
European Journal of Human Genetics 30 (1), 101-110, 2022
42022
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
B Büttner, S Martin, A Finck, M Arelin, C Baade-Büttner, T Bartolomaeus, ...
BioRxiv, 588517, 2019
42019
Altered gene expression profiles impair the nervous system development in individuals with 15q13. 3 microdeletion
MB Körner, A Velluva, L Bundalian, M Radtke, CC Lin, P Zacher, ...
Scientific reports 12 (1), 13507, 2022
22022
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
B Popp, M Brugger, S Poschmann, T Bartolomaeus, M Radtke, ...
Clinical Genetics 103 (2), 226-230, 2023
12023
A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2
B Popp, M Brugger, S Poschmann, T Bartolomaeus, M Radtke, ...
medRxiv, 2022.02. 23.22271353, 2022
12022
Genome Sequencing for Diagnosing Rare Diseases
MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ...
New England Journal of Medicine 390 (21), 1985-1997, 2024
2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder
Z Gokce-Samar, A Vetro, J De Bellescize, T Pisano, L Monteiro, N Penaud, ...
Neurology 102 (2), e207945, 2024
2024
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
SJ Lin, B Vona, T Lau, K Huang, MS Zaki, HS Aldeen, EG Karimiani, ...
Genome Medicine 15 (1), 102, 2023
2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)
CA Genetti, M Pinelli, N Brunetti-Pierri, A Garza-Flores, D Shahani, ...
American Journal of Human Genetics 110 (3), 548-548, 2023
2023
Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA domain
I Krey, S Neuser, A Schwan, T Bartolomaeus, JH Doering, S Syrbe, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 109-109, 2022
2022
Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain
S Neuser, I Krey, A Schwan, RA Jamra, T Bartolomaeus, J Döring, ...
medRxiv, 2021.09. 25.21261035, 2021
2021
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