Ian A. Glass

Overview

Best Publications

• Systematic localization of common disease-associated variation in regulatory DNA.

  Matthew T. Maurano;Richard Humbert;Eric Rynes;Robert E. Thurman

  4334
  Citations

• SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues.

  Carly G.K. Ziegler;Samuel J. Allon;Sarah K. Nyquist;Ian M. Mbano

  2401
  Citations

• Transcriptional landscape of the prenatal human brain

  Jeremy A. Miller;Song Lin Ding;Susan M. Sunkin;Kimberly A. Smith

  1413
  Citations

• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

  John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg

  764
  Citations

• A human cell atlas of fetal gene expression

  Junyue Cao;Diana R. O’Day;Hannah A. Pliner;Paul D. Kingsley

  582
  Citations

• The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

  Mark Clement-Jones;Simone Schiller;Ercole Rao;Rüdiger J. Blaschke

  540
  Citations

• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

  Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi

  421
  Citations

• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  421
  Citations

• A human cell atlas of fetal chromatin accessibility

  Silvia Domcke;Andrew J. Hill;Riza M. Daza;Junyue Cao

  330
  Citations

• Molar Tooth Sign of the Midbrain-Hindbrain Junction: Occurrence in Multiple Distinct Syndromes

  Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh

  315
  Citations

• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

  Melissa A. Parisi;Craig L. Bennett;Melissa L. Eckert;William B. Dobyns

  290
  Citations

• Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

  R Bachmann-Gagescu;J C Dempsey;I G Phelps;B J O'Roak

  273
  Citations

• CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

  Nicholas T. Gorden;Heleen H. Arts;Melissa A. Parisi;Karlien L.M. Coene

  268
  Citations

• Joubert syndrome (and related disorders) (OMIM 213300).

  Melissa A Parisi;Dan Doherty;Phillip F Chance;Ian A Glass

  265
  Citations

• Molecular Anatomy of the Developing Human Retina

  Akina Hoshino;Rinki Ratnapriya;Matthew J. Brooks;Vijender Chaitankar

  245
  Citations

• Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures.

  Akshayalakshmi Sridhar;Akina Hoshino;Connor R. Finkbeiner;Alex Chitsazan

  225
  Citations

• A report of dizygous monochorionic twins.

  Vivienne L. Souter;Raj P. Kapur;Dale R. Nyholt;Kristen Skogerboe

  206
  Citations

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Ji Eun Lee;Jennifer L Silhavy;Maha S Zaki;Jana Schroth

  205
  Citations

• Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

  Gisele E. Ishak;Jennifer C. Dempsey;Dennis W. W. Shaw;Dennis W. W. Shaw;Hannah Tully;Hannah Tully

  176
  Citations

• Molar Tooth Sign of the Midbrain-Hindbrain Junction

  Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh

  0
  Citations