KlaasJWierengaMDMSc

PubMed

• Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant.
  Eman N Chaudhri, Jessica M Abbott, Naeyma N Islam, Caleb A Weber, Mathew A Coban, Ahmet Bilgili, Jacqueline D Squire, Sarah Mantia, Klaas J Wierenga, Thomas R Caulfield> ;Genes. 2023 Sep 24
• Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
  Filippo Pinto E Vairo, Jennifer L Kemppainen, Carolyn R Rohrer Vitek, Denise A Whalen, Kayla J Kolbert, Kaitlin J Sikkink, Sarah A Kroc, Teresa Kruisselbrink, Gabriell...> ;Journal of Translational Medicine. 2023 Jun 23
• 4 citations
  Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
  Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova> ;Frontiers in Neurology. 2023 Jan 1
• A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?
  Shunsuke Koga, Shan Ali, Matthew C Baker, Klaas J Wierenga, Michelle Dompenciel, Dennis W Dickson, Zbigniew K Wszolek> ;Parkinsonism & Related Disorders. 2022 Dec 1
• 3 citations
  PLA2G6-associated neurodegeneration in four different populations-case series and literature review.
  Rana Hanna Al-Shaikh, Lukasz M Milanowski, Vikram V Holla, Kanako Kurihara, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Anikha Bellad, Dariusz Koziorowski, Stani...> ;Parkinsonism & Related Disorders. 2022 Aug 1
• Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia".
  Philip W Tipton, Klaas J Wierenga, Zbigniew K Wszolek> ;Movement Disorders. 2022 Jul 1
• Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
  Erica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia, Christopher T Schmitz, Björn Oskarsson, Eric W Klee, Klaas J Wierenga> ;Molecular Genetics & Genomic Medicine. 2022 Jul 1
• 8 citations
  Neuropathological Findings of CSF1R-Related Leukoencephalopathy After Long-Term Immunosuppressive Therapy.
  Shunsuke Koga, Philip W Tipton, Klaas J Wierenga, Dennis W Dickson, Zbigniew K Wszolek> ;Movement Disorders. 2022 Feb 1
• 14 citations
  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2021 Nov 23
• 2 citations
  Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
  Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova> ;Molecular Genetics & Genomic Medicine. 2021 Sep 12
• 6 citations
  Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.
  Yuka Koike, Karen Jansen-West, Rana Hanna Al-Shaikh, Yari Carlomagno, Yuping Song, Judith A. Dunmore, Mark S. LeDoux, Joseph H. Friedman, Ashley B. Pena, Ryan J. Uitti...> ;Parkinsonism & Related Disorders. 2021 Jul 17
• 23 citations
  Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
  Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick M...> ;Neuron. 2021 Jan 20
• 52 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 18 citations
  Impact of integrated translational research on clinical exome sequencing.
  Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke, Garrett Jenkinson, Alejandro Ferrer, Laura Schultz-Rogers, Rory J. Olson, Gavin ...> ;Genetics in Medicine. 2021 Mar 1
• 26 citations
  Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
  Mercedes Prudencio, Hector Garcia-Moreno, Karen Jansen-West, Rana Hanna Al-Shaikh, Tania F. Gendron, Michael G. Heckman, Matthew R. Spiegel, Yari Carlomagno, Lillian M...> ;Science Translational Medicine. 2020 Oct 21
• 12 citations
  Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder
  Laura Schultz-Rogers, Ikuo Masuho, Filippo Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas J. Wierenga, Kiril...> ;Molecular Genetics & Genomic Medicine. 2020 Sep 12
• 16 citations
  The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
  Lisa G. Riley, Joëlle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari I. Alahakoon, Cheng Yee Nixon, Edwin P. Kirk, Tony Roscioli, Sebastian ...> ;Human Mutation. 2020 Aug 1
• 1 citations
  IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
  Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin K. Shah, Arpan A. Sinha> ;Pediatric Hematology and Oncology. 2020 Mar 13
• 5 citations
  De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
  Maria J. Nabais Sá, Geniver El Tekle, Arjan P.M. de Brouwer, Sarah L. Sawyer, Daniela del Gaudio, Michael Parker, Farah Kanani, Marie-José H. van den Boogaard, Koen L....> ;American Journal of Human Genetics. 2020 Mar 5
• 15 citations
  Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
  Patrick R. Blackburn, Adrienne E. Sullivan, Alexis G. Gerassimou, Lotte Kleinendorst, David C. Bersten, Mellody I. Cooiman, Kimberly G. Harris, Klaas J. Wierenga, Eric...> ;The Journal of Clinical Endocrinology and Metabolism. 2020 Jan 1
• 4 citations
  A neonate with mucolipidosis II and transient secondary hyperparathyroidism.
  Carlos A. Leyva, Maria Buch, Klaas J. Wierenga, Gary D. Berkovitz, Tossaporn Seeherunvong> ;Journal of Pediatric Endocrinology & Metabolism. 2019 Dec 18
• 30 citations
  Loss of Oxidation Resistance 1, OXR1, Is Associated With an Autosomal-Recessive Neurological Disease With Cerebellar Atrophy and Lysosomal Dysfunction
  Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye Jin Park, David Li-Kroeger, Weimin Bi, Lee-Jun C. Wong, Jill ...> ;American Journal of Human Genetics. 2019 Dec 5
• 10 citations
  Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
  Mathilde Nizon, Vincent Laugel, Kevin M Flanigan, Matthew Pastore, Megan A Waldrop, Jill A Rosenfeld, Ronit Marom, Rui Xiao, Amanda Gerard, Olivier Pichon, Cédric Le C...> ;Genetics in Medicine. 2019 Dec 1
• Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
  Mathilde Nizon, Vincent Laugel, Kevin M Flanigan, Matthew Pastore, Megan A Waldrop, Jill A Rosenfeld, Ronit Marom, Rui Xiao, Amanda Gerard, Olivier Pichon, Cédric Le C...> ;Genetics in Medicine. 2019 Nov 1
• 20 citations
  Dominant collagen XII mutations cause a distal myopathy
  Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, S. Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J...> ;Annals of Clinical and Translational Neurology. 2019 Oct 1
• Join now to see all