Publications

Genomic Research Highlights

Loss of tissue-type plasminogen activator causes multiple developmental anomalies (Brain Communications)

  • Authors: Kevin Uguen, MD; Tanja Frey, MD; Osama Muthaffar, MD; Jean-Claude Décarie, MD; Najim Ameziane, PhD; Sarah Boissel, PhD; Yalda Baradaran-Heravi, PhD; Anita Rauch, MD; Gabriela Oprea, PhD; Aboulfazl Rad, PhD; Katharina Steindl, MD; Jacques L Michaud, MD

ESHG 2024 Poster: Nuclear Mitochondrial DNA disruption in KLHL10 gene causes Spermatogenic Failure – a Case Study

  • Authors: Murtadha Ali, Najim Ameziane, Aboulfazl Rad, Gabriela Oprea, Shivendra Kishore

ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly

  • Authors: Yasaman Pakdaman, Somayeh Bakhtiari, Roseline Caumes, Paskal Cullufi, Yiran Xu, Changlian Zhu, Yangong Wang, Thomas Smol, Michael C Kruer, Aboulfazl Rad, Shivendra Kishore, Gabriela Oprea

ESHG 2024 Poster: Novel variants in FZR1 consolidate its role in developmental and epileptic encephalopathies type 109

  • Authors: Yasaman Pakdaman, Somayeh Bakhtiari, Roseline Caumes, Paskal Cullufi, Yiran Xu, Changlian Zhu, Yangong Wang, Thomas Smol, Michael C Kruer, Aboulfazl Rad, Shivendra Kishore, Gabriela Oprea

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

  • Authors: Salpietro, Vincenzo; Hannah, Michael G. et al.

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report – Jilani – 2022 – Clinical Case Reports – Wiley Online Library

  • Authors: Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Arndt Rolfs, et. al.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center | Orphanet Journal of Rare Diseases | Full Text (biomedcentral.com)

  • Authors: Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Arndt Rolfs et al.

Frontiers | Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome (frontiersin.org)

  • Authors: Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Arndt Rolfs et al.

Sex-specific lesion pattern of functional outcomes after stroke | Brain Communications | Oxford Academic (oup.com)

  • Authors: Anna K. Bonkhoff, Martin Bretzner, Sungmin Hong, Arndt Rolfs et al.

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development | European Journal of Human Genetics (nature.com)

  • Authors: Elisa Rahikkala, Lea Urpa, Bishwa Ghimire, Arndt Rolfs et al.

IJMS | Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? | Free Full Text (mdpi.com)

  • Authors: Dinur Tama, Peter Bauer, Christian Beetz, Arndt Rolfs et al.

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology | Full article (tandfonline.com)

  • Authors: Volha Skrahina, Ulrike Grittner, Christian Beetz, Arndt Rolfs et al.

HAE patient self-sampling for biomarker establishment | Orphanet Journal of Rare Diseases | Full Text (biomedcentral.com)

  • Authors: Toni M. Förster, Markus Magerl, Arndt Rolfs, Volha Skrahina et al.

Frontiers | Excessive White Matter Hyperintensity Increases Susceptibility to Poor Functional Outcomes After Acute Ischemic Stroke (frontiersin.org)

  • Authors: Sungmin Hong, Anne-Kartin Giese, Markus D Schirmer, Arndt Rolfs et al.

Frontiers | LIPAD (LRRK2/Luebeck International Parkinson’s Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort (frontiersin.org)

  • Authors: Tatiana Usnich, Eva-Juliane Vollstedt, Volha Skrahina, Arndt Rolfs et al.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

  • Authors: Aida M. Bertoli-Avella, Krishna K. Kandaswamy, Najim Ameziane, Arndt Rolfs et al.

IJMS | Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations | Free Full-Text (mdpi.com)

  • Authors: Dinur, Tama, Ulrike Grittner, Arndt Rolfs et al.

MRI Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes – PubMed (nih.gov)

  • Authors: Martin Bretzner, Anna K. Bonkhoff, Markus D Schirmer, Arndt Rolfs et al.

Effect of SARS-CoV-2 vaccination among health care workers in a geriatric care unit after a B.1.1.7-variant outbreak – ScienceDirect

  • Authors: Christian Tanislav, Thomas El Ansari, Marco Meyer, Arndt Rolfs et al.

Outcome after acute ischemic stroke is linked to sex-specific lesion patterns | Nature Communications

  • Authors: Anna K. Bonkhoff, Markus D. Schirmer, Martin Bretzner, Arndt Rolfs et al.

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism | Nature Communications

  • Authors: Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Arndt Rolfs et al.

IJMS | Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations | Free Full-Text (mdpi.com)

  • Authors: Dinur Tama, Ulrike Grittner, Shoshana Revel-Vilk, Arndt Rolfs et al.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking | Brain | Oxford Academic (oup.com)

  • Authors: Leslie E. Sanderson, Kristina Lanko, Najim Ameziane, Arndt Rolfs et al.

Frontiers | PDA Indolylmaleimides Induce Anti-Tumor Effects in Prostate Carcinoma Cell Lines Through Mitotic Death (frontiersin.org)

  • Authors: Jan Torben Schille, Ingo Nolte, Julia Beck, Arndt Rolfs et al.

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact – Beetz – 2021 – Movement Disorders – Wiley Online Library

  • Authors: Christian Beetz, Najim Ameziane, Volha Skrahina, Arndt Rolfs et al.

The Rostock International Parkinson’s Disease (ROPAD) Study: Protocol and Initial Findings – Skrahina – 2021 – Movement Disorders – Wiley Online Library

  • Authors: Volha Skrahina, Hanaa Gaber, Najim Ameziane, Arndt Rolfs et al.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis | Journal of the American Society of Nephrology (lww.com)

  • Authors: Veronica Arora, Suliman Khan, Ayman W. El-Hattab, Arndt Rolfs et al.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort | European Journal of Human Genetics (nature.com)

  • Authors: Aida M. Bertoli-Avella, Christian Beetz, Najim Ameziane, Arndt Rolfs et al.