Publications

Genomic Research Highlights

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

  • Authors: Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Elena Brivio, Till Balla, Marina Vitoria Gomes, Elizabeth Ramos-Morales, Noémie Schwaller, Thalia Salinas-Giegé, Grace VanNoy, Eleina M England, Alysia Kern Lovgren, Melanie O’Leary, Maya Chopra, Naomi Meave Ojeda, Mehran Beiraghi Toosi, Atieh Eslahi, Masoome Alerasool, Majid Mojarrad, Lynn S Pais, Rebecca C Yeh, Dustin L Gable, Mais O Hashem, Firdous Abdulwahab, Muath Rakiz Alqurashi, Loai Z Sbeih, Omar Abu Adas Blanco, Renad Abu Khater, Gabriela Oprea, Aboulfazl Rad, Hamad Alzaidan, Hesham Aldhalaan, Ehab Tous, Afaf Alsagheir, Mohammed Alowain, Abdullah Tamim, Khowlah Alfayez, Amal Alhashem, Aisha Alnuzha, Mona Kamel, Bashayer S Al-Awam, Walaa Elnaggar, Nihal Almenabawy, Anne O'Donnell-Luria, Jennifer E Neil, Joseph G Gleeson, Christopher A Walsh, Fowzan S Alkuraya, Lama AlAbdi, Nour Elkhateeb, Laila Selim, Siddharth Srivastava, Danny D Nedialkova, Laurence Drouard, Christophe Romier, Efil Bayam, Juliette D Godin

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

  • Authors: Fatima Rahman, Luisa Marsili, Domizia Pasquetti, Aboulfazl Rad, Muhammad Nadeem Anjum, Gabriela Oprea, Huma Arshad Cheema, Barbara Vona, Cesar Augusto Alves, Henry Houlden, Shazia Maqbool, Stephanie Efthymiou, Thomas Smol, Reza Maroofian

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: Aboulfazl Rad, Raman Kumar, Muhammad Mustafa, 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

  • 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

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

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome

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

Sex-specific lesion pattern of functional outcomes after stroke

  • 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

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

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

  • 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

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

HAE patient self-sampling for biomarker establishment

  • 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.