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Institution · CeGaT (Germany)

Most cited papers from CeGaT (Germany)

CeGaT (Germany)

What are the most cited papers from CeGaT (Germany)?

The most cited paper from CeGaT (Germany) is "Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders" (Markus Wolff et al., 2017), with 606 citations. Next come "Genomic analyses inform on migration events during the peopling of Eurasia" (488) and "Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes" (446).

Showing 50 of 61 papers. Every paper with more than 55 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Markus Wolff et al. · Brain Open access 23 Feb 2017 606
2 Genomic analyses inform on migration events during the peopling of Eurasia Luca Pagani et al. · Nature Open access 20 Sep 2016 488
3 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes Johannes R. Lemke et al. · Nature Genetics 11 Aug 2013 446
4 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Catherine A. Brownstein et al. · Genome biology Open access198 authors 25 Mar 2014 433
5 Targeted next generation sequencing as a diagnostic tool in epileptic disorders Johannes R. Lemke et al. · Epilepsia 21 May 2012 332
6 SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation Julien H. Park et al. · The American Journal of Human Genetics Open access Dec 2015 323
7 The phenotypic spectrum of SCN8A encephalopathy Jan Larsen et al. · Neurology Open access 8 Jan 2015 289
8 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy EuroEPINOMICS RES et al. · Nature Genetics Open access 9 Mar 2015 278
9 GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer et al. · Journal of Medical Genetics Open access 4 Apr 2017 261
10 Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics 7 Nov 2010 255
11 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies Nicola Glöckle, Susanne Kohl, Julia Mohr et al. · European Journal of Human Genetics Open access 17 Apr 2013 247
12 GRIN2A -related disorders: genotype and functional consequence predict phenotype Vincent Strehlow et al. · Brain Open access 14 Nov 2018 232
13 Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma – results of a prospective biomarker study Andrea Forschner, Florian Battke, Dirk Hadaschik et al. · Journal for ImmunoTherapy of Cancer Open access 12 Jul 2019 214
14 GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy Johannes R. Lemke, Rik Hendrickx, Kirsten Geider et al. · Annals of Neurology Open access 25 Nov 2013 211
15 Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data Alena Kushniarevich et al. · PLoS ONE Open access 2 Sep 2015 206
16 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy Cyril Mignot et al. · Journal of Medical Genetics Open access 17 Mar 2016 203
17 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes Julian Schubert et al. · Nature Genetics 2 Nov 2014 201
18 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum Matthis Synofzik, Anne S. Soehn, Janina Gburek‐Augustat et al. · Orphanet Journal of Rare Diseases Open access 2013 193
19 GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Dong Li et al. · The American Journal of Human Genetics Open access 12 Sep 2016 184
20 Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Martin A. Mensah et al. · Nature Open access 8 Feb 2023 168
21 De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Katherine L. Helbig et al. · The American Journal of Human Genetics Open access136 authors 18 Oct 2018 160
22 Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period Nicole Weisschuh, Carolin D. Obermaier, Florian Battke et al. · Human Mutation Open access 12 Jun 2020 138
23 Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours Ellen Brenner et al. · Nature Communications Open access 12 Mar 2020 132
24 The Genomic Impact of European Colonization of the Americas Linda Ongaro et al. · Current Biology Open access 14 Nov 2019 125
25 DEPDC5 mutations in genetic focal epilepsies of childhood Dennis Lal et al. · Annals of Neurology 3 Mar 2014 117
26 FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants Diana Mitter et al. · Genetics in Medicine Open access 29 Jun 2017 113
27 Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype Matthis Synofzik, Walter Maetzler, Torsten Grehl et al. · Neurobiology of Aging 11 Aug 2012 109
28 Further delineation of the SATB2 phenotype Dennis Döcker, Max Schubach, Moritz Menzel et al. · European Journal of Human Genetics Open access 4 Dec 2013 105
29 Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing Nicole Weisschuh et al. · PLoS ONE Open access 14 Jan 2016 104
30 Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy Steffen Syrbe et al. · Brain Open access 19 Jul 2017 103
31 The role of genetic testing in epilepsy diagnosis and management Yvonne G. Weber, Saskia Biskup, Katherine L. Helbig et al. · Expert Review of Molecular Diagnostics 26 May 2017 100
32 Tdrd6a Regulates the Aggregation of Buc into Functional Subcellular Compartments that Drive Germ Cell Specification Elke F. Roovers, Lucas J. T. Kaaij, Stefan Redl et al. · Developmental Cell Open access Aug 2018 98
33 Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia Niklas Schwarz, Andreas Hahn, Thomas Bast et al. · Journal of Neurology Open access 8 Dec 2015 93
34 Phenotypic and molecular insights into CASK-related disorders in males Ute Moog, Tatjana Bierhals, K. Gerhard Brand et al. · Orphanet Journal of Rare Diseases Open access 11 Apr 2015 91
35 SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis Julien H. Park, Christiane Elpers, Janine Reunert et al. · Brain Open access 5 Jun 2019 90
36 PEDIA: prioritization of exome data by image analysis Tzung‐Chien Hsieh et al. · Genetics in Medicine Open access 4 Jun 2019 90
37 A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): molecular basis, clinical phenotype, and therapeutic approach K Dörre, Mariusz Olczak, Yoshiro Wada et al. · Journal of Inherited Metabolic Disease 16 Mar 2015 90
38 Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies Maike Franziska Dohrn et al. · Journal of Neurochemistry 13 Sep 2017 84
39 Autosomal recessive stickler syndrome due to a loss of function mutation in the COL 9 A 3 gene Flavio Faletra, Pio D’Adamo, Irene Bruno et al. · American Journal of Medical Genetics Part A 22 Nov 2013 84
40 De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Konrad Platzer et al. · The American Journal of Human Genetics Open access 3 Jan 2019 80
41 Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier Tobias Bonifert, Kathrin N. Karle, Felix Tonagel et al. · Brain Open access 25 Jun 2014 80
42 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene Maria Kousi, Verneri Anttila, Angela Schulz et al. · Journal of Medical Genetics Open access Jun 2012 78
43 FAHN/SPG35: a narrow phenotypic spectrum across disease classifications Tim W Rattay et al. · Brain Open access 3 Apr 2019 77
44 Clinical and Genetic Tumor Characteristics of Responding and Non-Responding Patients to PD-1 Inhibition in Hepatocellular Carcinoma Stephan Spahn, Daniel Roessler, Radu Pompilia et al. · Cancers Open access 18 Dec 2020 74
45 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder Ayeshah Chaudhry et al. · Clinical Genetics 14 Aug 2014 74
46 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B. Haack et al. · Orphanet Journal of Rare Diseases Open access 2014 68
47 Trio exome sequencing is highly relevant in prenatal diagnostics Heinz Gabriel, Dirk Korinth, M Ritthaler et al. · Prenatal Diagnosis Open access 27 Dec 2021 67
48 A real-world observation of patients with glioblastoma treated with a personalized peptide vaccine Pauline Latzer et al. · Nature Communications Open access 10 Aug 2024 66
49 De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Andreea Manole et al. · The American Journal of Human Genetics Open access 31 Jul 2020 66
50 Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy Henrike Heyne, Mykyta Artomov, Florian Battke et al. · Genetics in Medicine Open access 6 May 2019 66

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.