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Scopus Author ID: 7003775969

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Centogene AG: Rostock, DE

2018-09-01 to present
Employment
Source: Self-asserted source
Christian Beetz

Works (50 of 92)

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Page 1 of 2

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

Brain
2024-08-01 | Journal article
DOI: 10.1093/brain/awae188
Contributors: Ana Westenberger; Volha Skrahina; Tatiana Usnich; Christian Beetz; Eva-Juliane Vollstedt; Björn-Hergen Laabs; Jefri J Paul; Filipa Curado; Snezana Skobalj; Hanaa Gaber et al.
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SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism

International Journal of Molecular Sciences
2024-05-03 | Journal article
DOI: 10.3390/ijms25095008
Contributors: Ewelina Elert-Dobkowska; Iwona Stepniak; Wiktoria Radziwonik-Fraczyk; Amir Jahic; Christian Beetz; Anna Sulek
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Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients

Life
2023-11-28 | Journal article
DOI: 10.3390/life13122274
Contributors: Mandy Radefeldt; Silke Stellmacher-Kaiser; Susann Krake; Brigitte Kragl; Sabrina Lemke; Christian Beetz; Peter Bauer; Christian Junghanß; Ruslan Al-Ali
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Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child

Laboratory Medicine
2023-09-05 | Journal article
DOI: 10.1093/labmed/lmac165
Contributors: P Mihika S Fernando; R A Saraji R Gunasekara; Sabine Schröder; Christian Beetz; Anura Jayawardena; Eresha A Jasinge
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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

Diagnostics
2023-08-30 | Journal article
DOI: 10.3390/diagnostics13172812
Contributors: Filipa Curado; Sabine Rösner; Susanne Zielke; Gina Westphal; Ulrike Grittner; Volha Skrahina; Mohammed Alasel; Ahmad Mehmood Malik; Christian Beetz; Tobias Böttcher et al.
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A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family

Clinical Genetics
2023-05 | Journal article
DOI: 10.1111/cge.14271
Contributors: Salem Alawbathani; Suliman Khan; Ana Westenberger; Christian Beetz; Lokesh Lingappa
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Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

International Journal of Molecular Sciences
2023-02-15 | Journal article
DOI: 10.3390/ijms24043945
Contributors: Tama Dinur; Peter Bauer; Christian Beetz; Claudia Cozma; Michal Becker-Cohen; Majdolen Istaiti; Arndt Rolfs; Volha Skrahina; Ari Zimran; Shoshana Revel-Vilk
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Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA

Journal of Nepal Paediatric Society
2022-12-31 | Journal article
DOI: 10.3126/jnps.v42i2.41954
Contributors: Neluwa-Liyanage Indika; Ruwan Indika; Arndt Rolfs; Christian Beetz; Sabine Schröder; Catarina Pereira; Volha Volha; Mihika Fernando; Dinesha Maduri Vidanapathirana; Subhashinie Jayasena et al.
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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Journal of Medical Genetics
2022-10 | Journal article
DOI: 10.1136/jmedgenet-2021-108281
Contributors: Helle Høyer; Hilde T Hilmarsen; Raute Sunder-Plassmann; Geir J Braathen; Peter M Andersen; Christian Beetz; Sandra Hacker; Øystein L Holla; Ingo Kurth; Wolfgang N Löscher et al.
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A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

Clinical Genetics
2022-05 | Journal article
DOI: 10.1111/cge.14126
Contributors: Azza Salah; Mohammed Almannai; Mode Al Ojaimi; Mandy Radefeldt; Nishtha Gulati; Maria Iqbal; Salem Alawbathani; Ruslan Al‐Ali; Christian Beetz; Ayman W. El‐Hattab
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

International Journal of Molecular Sciences
2022-01-30 | Journal article
DOI: 10.3390/ijms23031627
Contributors: Tama Dinur; Peter Bauer; Christian Beetz; Guido Kramp; Claudia Cozma; Marius-Ionuț Iurașcu; Michal Becker-Cohen; Majdolen Istaiti; Arndt Rolfs; Ari Zimran et al.
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A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

Clinical Genetics
2021-11 | Journal article
DOI: 10.1111/cge.14043
Contributors: Noha Musa; Mohamed A. Elmonem; Christian Beetz; Mona Hafez; Mona Hassan; Arndt Rolfs; Laila Selim; Nour Elkhateeb
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Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

International Journal of Clinical Practice
2021-09-11 | Journal article
DOI: 10.1111/ijcp.14422
Contributors: Timothy M. Reynolds; Anthony S. Wierzbicki; Volha Skrahina; Christian Beetz
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Crossref

Reply letter to Battke et al.

European Journal of Human Genetics
2021-05-17 | Journal article
DOI: 10.1038/s41431-021-00819-8
Contributors: Aida M. Bertoli-Avella; Christian Beetz; Najim Ameziane; Peter Bauer
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Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

Clinical Genetics
2021-04 | Journal article
DOI: 10.1111/cge.13905
Contributors: Lia Abbasi‐Moheb; Ana Westenberger; Maha Alotaibi; Malak Ali Alghamdi; Jozef L. Hertecant; Amir Ariamand; Christian Beetz; Arndt Rolfs; Aida M. Bertoli‐Avella; Peter Bauer
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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Movement Disorders
2021-04 | Journal article
DOI: 10.1002/mds.28452
Contributors: Christian Beetz; Ana Westenberger; Ruslan Al‐Ali; Najim Ameziane; Nadia Alhashmi; Rose‐Mary Boustany; Fuad Al Mutairi; Majid Alfadhel; Zuhair Al‐Hassnan; Moenaldeen AlSayed et al.
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Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease

Genes
2021-04-21 | Journal article
DOI: 10.3390/genes12050612
Contributors: Salam Massadeh; Maha Albeladi; Nour Albesher; Fahad Alhabshan; Kapil Dev Kampe; Farah Chaikhouni; Mohamed S. Kabbani; Christian Beetz; Manal Alaamery
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics
2021-02-08 | Journal article
DOI: 10.1038/s41431-020-00717-5
Contributors: Shereen G. Ghosh; Marcello Scala; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu Yang; Martin W. Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour et al.
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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

European Journal of Human Genetics
2021-01-28 | Journal article
DOI: 10.1038/s41431-020-00713-9
Contributors: Aida M. Bertoli-Avella; Christian Beetz; Najim Ameziane; Maria Eugenia Rocha; Pilar Guatibonza; Catarina Pereira; Maria Calvo; Natalia Herrera-Ordonez; Monica Segura-Castel; Dan Diego-Alvarez et al.
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Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

Journal of Clinical Medicine
2020-07-14 | Journal article
DOI: 10.3390/jcm9072234
Contributors: Michaela Auer-Grumbach; Rene Rettl; Klemens Ablasser; Hermine Agis; Christian Beetz; Franz Duca; Martin Gattermeier; Franz Glaser; Markus Hacker; Renate Kain et al.
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Rapid Large-Scale COVID-19 Testing during Shortages

Diagnostics
2020-07-08 | Journal article
DOI: 10.3390/diagnostics10070464
Contributors: Christian Beetz; Volha Skrahina; Toni M. Förster; Hanaa Gaber; Jefri J. Paul; Filipa Curado; Arndt Rolfs; Peter Bauer; Stephan Schäfer; Volkmar Weckesser et al.
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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

International Journal of Molecular Sciences
2020-06 | Journal article | Author
DOI: 10.3390/ijms21134577
Contributors: Claudia Cozma; Paskal Cullufi; Guido Kramp; Marina Hovakimyan; Virtut Velmishi; Agim Gjikopulli; Sonila Tomori; Steffen Fischer; Sebastian Oppermann; Ulrike Grittner et al.
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Multidisciplinary Digital Publishing Institute

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

Clinical Genetics
2020-04 | Journal article
DOI: 10.1111/cge.13690
Contributors: Christian Beetz; Najim Ameziane; Ameni Kdissa; Vasiliki Karageorgou; Peter Bauer; Jehan Suleiman; V. Reid Sutton; Ayman W. El‐Hattab
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Novel clinical and genetic insight into CXorf56-associated intellectual disability

European Journal of Human Genetics
2020-03-10 | Journal article
DOI: 10.1038/s41431-019-0558-3
Contributors: Maria Eugenia Rocha; Tainá Regina Damaceno Silveira; Erina Sasaki; Daíse Moreno Sás; Charles Marques Lourenço; Krishna K. Kandaswamy; Christian Beetz; Arndt Rolfs; Peter Bauer; Willie Reardon et al.
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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Journal of Human Genetics
2020-02-26 | Journal article
DOI: 10.1038/s10038-019-0693-2
Contributors: Adila Al-Kindi; Maryam Al-Shehhi; Ana Westenberger; Christian Beetz; Patrick Scott; Oliver Brandau; Lia Abbasi-Moheb; Zafer Yüksel; Peter Bauer; Arndt Rolfs et al.
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

Clinical Genetics
2019-05 | Journal article
DOI: 10.1111/cge.13513
Contributors: Zafer Yüksel; Florian Vogel; Amal M. Alhashem; Talal S.A. Alanzi; Brahim Tabarki; Kapil Kampe; Krishna K. Kandaswamy; Martin Werber; Aida M. Bertoli‐Avella; Christian Beetz et al.
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Crossref

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR-encoded, aggregation-inducing motif

Human Mutation
2018-02-27 | Journal article
DOI: 10.1002/humu.23369
Contributors: Andrea S. Bock; Sven Günther; Julia Mohr; Lisa V. Goldberg; Amir Jahic; Cornelia Klisch; Christian A. Hübner; Saskia Biskup; Christian Beetz
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Association of genetic predisposition with solitary schwannoma or meningioma in children and young adults

JAMA Neurology
2017 | Journal article
DOI: 10.1001/jamaneurol.2017.1406
EID:

2-s2.0-85020785464
Contributors: Pathmanaban, O.N.; Sadler, K.V.; Kamaly-Asl, I.D.; King, A.T.; Rutherford, S.A.; Hammerbeck-Ward, C.; McCabe, M.G.; Kilday, J.-P.; Beetz, C.; Poplawski, N.K. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia

Journal of Cell Biology
2017 | Journal article
DOI: 10.1083/jcb.201609033
EID:

2-s2.0-85021840764
Contributors: Allison, R.; Edgar, J.R.; Pearson, G.; Rizo, T.; Newton, T.; Günther, S.; Berner, F.; Hague, J.; Connell, J.W.; Winkler, J. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Doublet-Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

Human Mutation
2017 | Journal article
DOI: 10.1002/humu.23162
EID:

2-s2.0-85010733336
Contributors: Jahic, A.; Hinreiner, S.; Emberger, W.; Hehr, U.; Zuchner, S.; Beetz, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

A polymorphic Alu insertion that mediates distinct disease-associated deletions

European Journal of Human Genetics
2016 | Journal article
DOI: 10.1038/ejhg.2016.20
EID:

2-s2.0-84959528910
Contributors: Jahic, A.; Erichsen, A.K.; Deufel, T.; Tallaksen, C.M.; Beetz, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Human Mutation
2016 | Journal article
DOI: 10.1002/humu.23000
EID:

2-s2.0-84974667165
Contributors: Günther, S.; Elert-Dobkowska, E.; Soehn, A.S.; Hinreiner, S.; Yoon, G.; Heller, R.; Hellenbroich, Y.; Hübner, C.A.; Ray, P.N.; Hehr, U. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool

Gene
2016 | Journal article
DOI: 10.1016/j.gene.2016.05.040
EID:

2-s2.0-84989821977
Contributors: Hentschel, J.; Tatun, D.; Parkhomchuk, D.; Kurth, I.; Schimmel, B.; Heinrich-Weltzien, R.; Bertzbach, S.; Peters, H.; Beetz, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

Human Mutation
2016 | Journal article
DOI: 10.1002/humu.23060
EID:

2-s2.0-84991247802
Contributors: Harlalka, G.V.; McEntagart, M.E.; Gupta, N.; Skrzypiec, A.E.; Mucha, M.W.; Chioza, B.A.; Simpson, M.A.; Sreekantan-Nair, A.; Pereira, A.; Günther, S. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

American Journal of Human Genetics
2016 | Journal article
DOI: 10.1016/j.ajhg.2016.07.008
EID:

2-s2.0-85015505768
Contributors: Auer-Grumbach, M.; Toegel, S.; Schabhüttl, M.; Weinmann, D.; Chiari, C.; Bennett, D.L.H.; Beetz, C.; Klein, D.; Andersen, P.M.; Böhme, I. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

Journal of Human Genetics
2016 | Journal article
DOI: 10.1038/jhg.2016.73
EID:

2-s2.0-84992375334
Contributors: Mészárosová, A.U.; Putzová, M.; Čermáková, M.; Vávrová, D.; Doležalová, K.; Smetanová, I.; Stejskal, D.; Beetz, C.; Seeman, P.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I

Human Genome Variation
2016-10-06 | Journal article
DOI: 10.1038/hgv.2016.31
Contributors: Catherine Breen; Jean Mercer; Simon A Jones; Amir Jahic; Lesley Heptinstall; Karen Tylee; William G Newman; Christian Beetz
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Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

Journal of Clinical Oncology
2015 | Journal article
DOI: 10.1200/JCO.2014.58.2569
EID:

2-s2.0-84919767719
Contributors: Smith, M.J.; Beetz, C.; Williams, S.G.; Bhaskar, S.S.; O'Sullivan, J.; Anderson, B.; Daly, S.B.; Urquhart, J.E.; Bholah, Z.; Oudit, D. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

PLoS Genetics
2015 | Journal article
DOI: 10.1371/journal.pgen.1005454
EID:

2-s2.0-84940782253
Contributors: Varga, R.-E.; Khundadze, M.; Damme, M.; Nietzsche, S.; Hoffmann, B.; Stauber, T.; Koch, N.; Hennings, J.C.; Franzka, P.; Huebner, A.K. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

Journal of the Neurological Sciences
2015 | Journal article
DOI: 10.1016/j.jns.2015.10.030
EID:

2-s2.0-84949660047
Contributors: Elert-Dobkowska, E.; Stepniak, I.; Krysa, W.; Rajkiewicz, M.; Rakowicz, M.; Sobanska, A.; Rudzinska, M.; Wasielewska, A.; Pilch, J.; Kubalska, J. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones

Analytical Biochemistry
2015 | Journal article
DOI: 10.1016/j.ab.2015.01.007
EID:

2-s2.0-84923383528
Contributors: Elert-Dobkowska, E.; Hennings, J.C.; Hübner, C.A.; Beetz, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

The spectrum of KIAA0196 variants, and characterization of a murine knockout: Implications for the mutational mechanism in hereditary spastic paraplegia type SPG8 Rare neurological diseases

Orphanet Journal of Rare Diseases
2015 | Journal article
DOI: 10.1186/s13023-015-0359-x
EID:

2-s2.0-84955398156
Contributors: Jahic, A.; Khundadze, M.; Jaenisch, N.; Schüle, R.; Klimpe, S.; Klebe, S.; Frahm, C.; Kassubek, J.; Stevanin, G.; Schöls, L. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Urinary tract effects of HPSE2 mutations

Journal of the American Society of Nephrology
2015 | Journal article
DOI: 10.1681/ASN.2013090961
EID:

2-s2.0-84926434689
Contributors: Stuart, H.M.; Roberts, N.A.; Hilton, E.N.; McKenzie, E.A.; Daly, S.B.; Hadfield, K.D.; Rahal, J.S.; Gardiner, N.J.; Tanley, S.W.; Lewis, M.A. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

Journal of the Neurological Sciences
2014 | Journal article
DOI: 10.1016/j.jns.2014.10.018
EID:

2-s2.0-84920183018
Contributors: Jahic, A.; Kreuz, F.; Zacher, P.; Fiedler, J.; Bier, A.; Reif, S.; Rieger, M.; Krüger, S.; Beetz, C.; Plaschke, J.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

American Journal of Human Genetics
2014 | Journal article
DOI: 10.1016/j.ajhg.2014.10.014
EID:

2-s2.0-84919665541
Contributors: Wieczorek, D.; Newman, W.G.; Wieland, T.; Berulava, T.; Kaffe, M.; Falkenstein, D.; Beetz, C.; Graf, E.; Schwarzmayr, T.; Douzgou, S. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Erratum: A spastic paraplegia mouse model reveals REEP1-dependent ER shaping (Journal of Clinical Investigation (2014) 123:10 (4273-4282) DOI: 10.1172/JCI65665))

Journal of Clinical Investigation
2014 | Journal article
DOI: 10.1172/JCI76634
EID:

2-s2.0-84902185027
Contributors: Beetz, C.; Koch, N.; Khundadze, M.; Zimmer, G.; Nietzsche, S.; Hertel, N.; Huebner, A.-K.; Mumtaz, R.; Schweizer, M.; Dirren, E. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

Human Mutation
2014 | Journal article
DOI: 10.1002/humu.22521
EID:

2-s2.0-84896113149
Contributors: Falk, J.; Rohde, M.; Bekhite, M.M.; Neugebauer, S.; Hemmerich, P.; Kiehntopf, M.; Deufel, T.; Hübner, C.A.; Beetz, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

Journal of Pathology
2014 | Journal article
DOI: 10.1002/path.4427
EID:

2-s2.0-84910681433
Contributors: Smith, M.J.; Wallace, A.J.; Bennett, C.; Hasselblatt, M.; Elert-Dobkowska, E.; Evans, L.T.; Hickey, W.F.; Van Hoff, J.; Bauer, D.; Lee, A. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma

Journal of Neuro-Oncology
2014 | Journal article
DOI: 10.1007/s11060-013-1286-0
EID:

2-s2.0-84893658243
Contributors: Feierabend, D.; Walter, J.; Grube, S.; Herbold, C.; Beetz, C.; Kalff, R.; Ewald, C.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Neurology
2014 | Journal article
EID:

2-s2.0-84925968894
Contributors: Smith, M.J.; Isidor, B.; Beetz, C.; Williams, S.G.; Bhaskar, S.S.; Richer, W.; O'Sullivan, J.; Anderson, B.; Daly, S.B.; Urquhart, J.E. et al.
Source: Self-asserted source
Christian Beetz via Scopus - Elsevier
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Review activity for Orphanet journal of rare diseases. (2)
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