Laurie J. Ozelius

Laurie J. Ozelius publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Laurie J. Ozelius sits on this spectrum.

Laurie J. Ozelius D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Laurie J. Ozelius sits on this spectrum.

Overview

Best Publications

• The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

  Laurie J. Ozelius;Jeffrey W. Hewett;Curtis E. Page;Susan B. Bressman

  1202
  Citations

• LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

  Laurie J. Ozelius;Geetha Senthil;Rachel Saunders-Pullman;Erin Ohmann

  839
  Citations

• Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

  B. R. Seizinger;G. A. Rouleau;L. J. Ozelius;A. H. Lane

  752
  Citations

• A Single Nucleotide Polymorphism in the Matrix Metalloproteinase-1 Promoter Creates an Ets Binding Site and Augments Transcription

  Joni L. Rutter;Teresa I. Mitchell;Giovanna Butticè;Jennifer Meyers

  716
  Citations

• Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

  Patricia de Carvalho Aguiar;Patricia de Carvalho Aguiar;Kathleen J Sweadner;John T Penniston;Jacek Zaremba

  603
  Citations

• Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.

  Neil Risch;Neil Risch;Deborah de Leon;Laurie Ozelius;Patricia Kramer

  520
  Citations

• Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

  B.R. Seizinger;G.A. Rouleau;L.J. Ozelius;A.H. Lane

  474
  Citations

• The DYT1 phenotype and guidelines for diagnostic testing

  Susan B Bressman;C Sabatti;Deborah Raymond;D de Leon

  438
  Citations

• Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

  Jun Mitsui;Takashi Matsukawa;Hiroyuki Ishiura;Yoko Fukuda;Yoko Fukuda

  429
  Citations

• Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

  Tania Fuchs;Sophie Gavarini;Rachel Saunders-Pullman;Rachel Saunders-Pullman;Deborah Raymond

  396
  Citations

• Mutations in GNAL cause primary torsion dystonia.

  Tania Fuchs;Rachel Saunders-Pullman;Rachel Saunders-Pullman;Ikuo Masuho;Marta San Luciano

  344
  Citations

• Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

  Ken Y. Hui;Heriberto Fernandez-Hernandez;Jianzhong Hu;Adam Schaffner

  336
  Citations

• Human gene for torsion dystonia located on chromosome 9q32-q34.

  Laurie Ozelius;Patricia L. Kramer;Carol B. Moskowitz;David J. Kwiatkowski

  328
  Citations

• Distribution, type, and origin of Parkin mutations: Review and case studies

  Katja Hedrich;Cordula Eskelson;Beth Wilmot;Karen Marder

  311
  Citations

• Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

  BR Seizinger;G Rouleau;LJ Ozelius;AH Lane

  307
  Citations

• Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene

  Ruediger Hilker;Christine Klein;Mehran Ghaemi;Bernhard Kis

  299
  Citations

• The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene

  Allison Brashear;William B. Dobyns;Patricia de Carvalho Aguiar;Michel Borg

  297
  Citations

• Parkin deletions in a family with adult‐onset, tremor‐dominant parkinsonism: Expanding the phenotype

  Christine Klein;Peter P. Pramstaller;Bernhard Kis;Curtis C. Page

  287
  Citations

• DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

  K. Hedrich;A. Djarmati;N. Schäfer;R. Hering

  281
  Citations

• Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

  Jeffrey Hewett;Charo Gonzalez-Agosti;Damien Slater;Philipp Ziefer

  241
  Citations