Most cited papers from Centogene (Germany)

Centogene (Germany)

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

The most cited paper from Centogene (Germany) is "A recent bottleneck of Y chromosome diversity coincides with a global change in culture" (Monika Karmin et al., 2015), with 511 citations. Next come "Clinical exome sequencing: results from 2819 samples reflecting 1000 families" (381) and "GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects" (261).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 46 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	A recent bottleneck of Y chromosome diversity coincides with a global change in culture Monika Karmin et al. · Genome Research Open access100 authors	13 Mar 2015	511
2	Clinical exome sequencing: results from 2819 samples reflecting 1000 families Daniel Trujillano et al. · European Journal of Human Genetics Open access	16 Nov 2016	381
3	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
4	Pluripotent Stem Cells: Current Understanding and Future Directions Antonio Romito, Gilda Cobellis · Stem Cells International Open access	20 Dec 2015	220
5	A case of probable Parkinson's disease after SARS-CoV-2 infection Mikhal E. Cohen, Roni Eichel, Bettina Steiner‐Birmanns et al. · The Lancet Neurology Open access	16 Sep 2020	203
6	Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients Arndt Rolfs, Anne‐Katrin Giese, Ulrike Grittner et al. · PLoS ONE Open access	20 Nov 2013	197
7	Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease Jan Lukáš, Anne‐Katrin Giese, Arseni Markoff et al. · PLoS Genetics Open access	Aug 2013	162
8	Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome Mark T. Handley et al. · Human Mutation Open access	19 Feb 2013	135
9	A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease Anne‐Katrin Giese, Hermann J. Mascher, Ulrike Grittner et al. · Orphanet Journal of Rare Diseases Open access	16 Jun 2015	131
10	Recommendations for whole genome sequencing in diagnostics for rare diseases Erika L. Souche et al. · European Journal of Human Genetics Open access	16 May 2022	129
11	Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort Aida Maria Bertoli‐Avella et al. · European Journal of Human Genetics Open access	28 Aug 2020	128
12	Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial Ludger J. Schöls et al. · Brain Open access	30 Sep 2017	111
13	Outcome after acute ischemic stroke is linked to sex-specific lesion patterns Anna Katharina Bonkhoff et al. · Nature Communications Open access	2 Jun 2021	108
14	The Rostock International Parkinson's Disease ( ROPAD ) Study: Protocol and Initial Findings Volha Skrahina et al. · Movement Disorders Open access	14 Dec 2020	108
15	Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy Rowida Almomani et al. · Journal of the American College of Cardiology Open access	Feb 2016	107
16	The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. · Journal of Inherited Metabolic Disease Open access	3 Apr 2020	103
17	Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study Ana Westenberger et al. · Brain Open access159 authors	14 Jun 2024	102
18	A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism Ana Westenberger et al. · Annals of Neurology	12 Apr 2019	100
19	Newborn Screening for Lysosomal Storage Disorders in Hungary Judit Wittmann, Eszter Karg, Sándor Túri et al. · JIMD Reports Book chapterOpen access	2012	98
20	TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) Louise A. Stephen et al. · eLife Open access	19 Sep 2015	94
21	Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis Pamela Magini et al. · The American Journal of Human Genetics Open access	5 Sep 2019	90
22	Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Lucía Schottlaender et al. · The American Journal of Human Genetics Open access	Mar 2020	89
23	Respiratory disease in Niemann‐Pick type C2 is caused by pulmonary alveolar proteinosis Matthias Griese, Frank E. Brasch, VR Aldana et al. · Clinical Genetics	11 Dec 2009	89
24	Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease Tom Le Voyer et al. · Proceedings of the National Academy of Sciences Open access	5 Apr 2021	85
25	A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy Katta M. Girisha, Anju Shukla, Daniel Trujillano et al. · Clinical Genetics	16 Feb 2016	78
26	FAHN/SPG35: a narrow phenotypic spectrum across disease classifications Tim W Rattay et al. · Brain Open access	3 Apr 2019	77
27	Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Darius Ebrahimi‐Fakhari et al. · Brain Open access	12 Sep 2019	76
28	Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism Björn‐Hergen Laabs et al. · Nature Communications Open access	28 May 2021	74
29	Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases Elena Perenthaler et al. · Acta Neuropathologica Open access	9 Dec 2019	73
30	Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen et al. · International Journal of Molecular Sciences Open access	21 Jun 2019	72
31	A comprehensive global genotype–phenotype database for rare diseases Daniel Trujillano, Gabriela E. Oprea, Yvonne Schmitz et al. · Molecular Genetics & Genomic Medicine Open access	23 Nov 2016	71
32	SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Yuh‐Charn Lin et al. · The American Journal of Human Genetics Open access	11 Dec 2020	70
33	Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk et al. · Nature Communications Open access	27 Aug 2020	69
34	EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia Demy J.S. Kuipers et al. · Annals of Neurology Open access	25 Nov 2020	68
35	Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice Alistair T. Pagnamenta et al. · Human Molecular Genetics Open access	26 Jul 2019	68
36	Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease Jan Lukáš, Simone Scalia, Sabrina Eichler et al. · Human Mutation	29 Sep 2015	67
37	Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology Sahar Elouej et al. · Nature Communications Open access	11 Sep 2020	64
38	Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias Heike Jacobi et al. · Journal of Neurology Open access	29 Jun 2018	64
39	Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer Daniel Trujillano, Maximilian E. R. Weiss, Juliane Schneider et al. · Journal of Molecular Diagnostics Open access	31 Dec 2014	63
40	Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) Nuria C. Bramswig et al. · Human Genetics Open access	23 Aug 2018	62
41	Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome Anju Shukla, Malavika Hebbar, Anshika Srivastava et al. · Journal of Human Genetics Open access	30 Mar 2017	62
42	Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders Aida Maria Bertoli‐Avella et al. · Genetics in Medicine Open access	19 Apr 2021	61
43	Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans Katja Lohmann, Ikuo Masuho, Dipak N. Patil et al. · Human Molecular Genetics Open access	13 Jan 2017	61
44	An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy Alistair T. Pagnamenta et al. · Brain Open access135 authors	13 Nov 2020	59
45	Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy Yoon-Myung Kim, Mi‐Sun Yum, Sun Hee Heo et al. · Journal of Medical Genetics Open access	24 Oct 2019	58
46	Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano et al. · JIMD Reports Book chapterOpen access	2015	58
47	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Holger Hengel et al. · Nature Communications Open access	30 Jan 2020	57
48	Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking Leslie E. Sanderson et al. · Brain Open access	24 Jan 2021	55
49	Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Yoshiko Murakami et al. · The American Journal of Human Genetics Open access	27 Jun 2019	54
50	Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber et al. · Journal of Neurodevelopmental Disorders Open access	25 Jun 2019	54

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.