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Z. Tümer · SciRah

Researcher profile · Semantic Scholar

Z. Tümer

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Z. Tümer — researcher profile on SciRah

h-index: 52
Works: 297
Citations: 10K

Most-cited papers

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
F. Brioude, J. Kalish, A. Mussa, A. Foster +37 more
2018Nature Reviews Endocrinology535 citations Open access
Semantic Scholar
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
A. Kline, J. Moss, A. Selicorni, A. Bisgaard +39 more
2018Nature reviews genetics334 citations Open access
Semantic Scholar
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
C. Jespersgaard, M. Fang, Mette Bertelsen, Xiao Dang +10 more
2019Scientific Reports113 citations Open access
Semantic Scholar
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
J. Karolak, M. Vincent, G. Deutsch, T. Gambin +68 more
2019American Journal of Human Genetics111 citations Open access
Semantic Scholar
Recent Advances in Imprinting Disorders
Lukas Soellner, M. Begemann, Deborah Mackay, K. Grønskov +8 more
2017Clinical Genetics97 citations Open access
Semantic Scholar
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
T. Sands, F. Miceli, G. Lesca, A. Beck +31 more
2019Annals of Neurology96 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 citations Open access
Semantic Scholar
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
D. Monk, Joannella Morales, J. D. den Dunnen, S. Russo +6 more
2018Epigenetics92 citations Open access
Semantic Scholar
Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners
Amanda M. Levy, Paulino Gómez-Puertas, Z. Tümer
2022International Journal of Molecular Sciences83 citations Open access
Semantic Scholar
Imprinting disorders
T. Eggermann, D. Monk, G. D. de Nanclares, M. Kagami +10 more
2023Nature Reviews Disease Primers72 citations
Semantic Scholar
Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters.
N. Cornelius, Jonathan H. Wardman, I. Hargreaves, V. Neergheen +4 more
2017Mitochondrion (Amsterdam. Print)60 citations Open access
Semantic Scholar
DLG4-related synaptopathy: a new rare brain disorder
A. Rodríguez-Palmero, Melissa M. Boerrigter, D. Gómez-Andrés, K. Aldinger +82 more
2021Genetics in Medicine54 citations Open access
Semantic Scholar
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
T. Eggermann, Elzem Yapici, J. Bliek, A. Pereda +15 more
2022Clinical Epigenetics46 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, G. Kupchik, B. Isidor, H. Kroes +41 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Lianne C. Krab, Í. Marcos-Alcalde, Melissa Assaf, M. Balasubramanian +22 more
2020Human Genetics35 citations Open access
Semantic Scholar
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Lusine Nazaryan-Petersen, J. Eisfeldt, M. Pettersson, J. Lundin +20 more
2018PLoS Genetics34 citations Open access
Semantic Scholar
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders
Miriam Nøstvik, Sarah M. Kateta, Bitten Schönewolf-Greulich, A. Afenjar +16 more
2021Clinical Genetics33 citations Open access
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Deborah Mackay, J. Bliek, M. Kagami, J. Tenorio-Castaño +25 more
2022Clinical Epigenetics31 citations Open access
Semantic Scholar
Chromothripsis and DNA Repair Disorders
Lusine Nazaryan-Petersen, V. A. Bjerregaard, F. Nielsen, N. Tommerup +1 more
2020Journal of Clinical Medicine31 citations Open access
Semantic Scholar
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
S. Kaur, N. V. Van Bergen, K. Verhey, C. Nowell +19 more
2020Human Mutation30 citations Open access
Semantic Scholar
Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature
Bitten Schönewolf-Greulich, A. Bisgaard, Rikke S. Møller, Morten Duno +8 more
2019Clinical Genetics28 citations Open access
Semantic Scholar
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
Nina McTiernan, L. Tranebjærg, A. S. Bjørheim, J. Hogue +7 more
2022Human Genetics25 citations Open access
Semantic Scholar
Deciphering the premature mortality in PIGA-CDG - An untold story.
A. Bayat, Marius Kløvgaard, K. Johannesen, Tahsin Stefan Barakat +12 more
2020Epilepsy Research25 citations Open access
Semantic Scholar
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Kate Wolfe, A. McQuillin, V. Alesi, Elise Boudry Labis +24 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics24 citations Open access
Semantic Scholar
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
A. Rasmussen, Mathis Hildonen, J. Vissing, M. Duno +2 more
2022Genes23 citations Open access
Semantic Scholar
Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database
Z. Tümer, J. López-Hernández, I. Netchine, M. Elbracht +5 more
2018Human Mutation23 citations
Semantic Scholar
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
D. J. Mackay, G. Gazdagh, David H. Monk, F. Brioude +28 more
2024Clinical Epigenetics22 citations Open access
Semantic Scholar
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays
J. H. Frederiksen, Sara B. Jensen, Z. Tümer, Thomas V. O. Hansen
2021International Journal of Molecular Sciences21 citations Open access
Semantic Scholar
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Smitha Kumble, Amanda M. Levy, J. Punetha, Hua Gao +55 more
2021Human Mutation21 citations Open access
Semantic Scholar
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
H. Oppermann, Elia Marcos-Grañeda, L. A. Weiss, C. Gurnett +51 more
2023European Journal of Human Genetics19 citations Open access
Semantic Scholar
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome
Mathis Hildonen, Amanda M. Levy, C. Dahl, V. A. Bjerregaard +4 more
2021Genes19 citations Open access
Semantic Scholar
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
Caroline Amalie Brunbjerg Hey, L. Larsen, Z. Tümer, K. Bröndum-Nielsen +3 more
2021International Journal of Molecular Sciences19 citations Open access
Semantic Scholar
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature
M. I. Boyle, C. Jespersgaard, Lusine Nazaryan, A. Bisgaard +1 more
2017Clinical Genetics18 citations
Semantic Scholar
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
S. Oates, M. Absoud, S. Goyal, Sophie Bayley +31 more
2021Clinical Genetics17 citations Open access
Semantic Scholar
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
B. Kassabian, Amanda M. Levy, E. Gardella, Á. Aledo-Serrano +60 more
2023Epilepsia16 citations Open access
Semantic Scholar
Solving the unsolved genetic epilepsies: Current and future perspectives
Kathrine M. Johannesen, Z. Tümer, S. Weckhuysen, T. S. Barakat +1 more
2023Epilepsia15 citations Open access
Semantic Scholar
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome—Where Are We?
Amanda M. Levy, P. Paschou, Z. Tümer
2021Genes15 citations Open access
Semantic Scholar
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
M. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, M. Niceta +53 more
2022Clinical Genetics14 citations Open access
Semantic Scholar
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
C. Jespersgaard, A. Hey, Tomas Ilginis, T. D. Hjortshøj +10 more
2020Investigative Ophthalmology and Visual Science13 citations Open access
Semantic Scholar
Oliver McFarlane syndrome: two new cases and a review of the literature
Kristian Lisbjerg, M. K. Andersen, Mette Bertelsen, A. G. Brost +6 more
2021Ophthalmic Genetics11 citations
Semantic Scholar
Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions
V. A. Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, C. Desler +1 more
2020Frontiers in Neurology11 citations Open access
Semantic Scholar
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
Mathis Hildonen, K. Knak, M. Duno, J. Vissing +1 more
2020Genes11 citations Open access
Semantic Scholar
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
Bitten Schönewolf-Greulich, A. Bisgaard, M. Duno, C. Jespersgaard +13 more
2018Clinical Genetics11 citations Open access
Semantic Scholar
Uniparental Disomy and Imprinting Disorders
T. Eggermann, D. Mackay, Z. Tümer
2018OBM Genetics11 citations Open access
Semantic Scholar
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
A. Delgado-Vega, H. Cederroth, F. Taylan, Katja Ekholm +101 more
2024Nature Genetics10 citations Open access
Semantic Scholar
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder
Mathis Hildonen, Amanda M. Levy, C. Hansen, J. Bybjerg-Grauholm +4 more
2021Genes10 citations Open access
Semantic Scholar
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
F. Furia, Amanda M. Levy, M. Theunis, M. Bamshad +32 more
2024Clinical Genetics9 citations Open access
Semantic Scholar
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts
T. D. Hjortshøj, A. R. Sørensen, Melodi Yusibova, Han-Sen M. Bo +8 more
2020Clinical Genetics9 citations Open access
Semantic Scholar

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