A. Micheil Innes

Overview

Best Publications

• De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

  Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  780
  Citations

• G protein-coupled receptor-dependent development of human frontal cortex.

  Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang

  560
  Citations

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

  Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  435
  Citations

• Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

  S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  398
  Citations

• The Role of PIEZO2 in Human Mechanosensation

  Alexander T. Chesler;Marcin Szczot;Diana Bharucha-Goebel;Marta Čeko

  358
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

• Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

  Sarah L Sawyer;Lei Tian;Marketta Kähkönen;Jeremy Schwartzentruber

  302
  Citations

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  295
  Citations

• SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

  Julien H. Park;Max Hogrebe;Marianne Grüneberg;Ingrid DuChesne

  284
  Citations

• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

  Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  240
  Citations

• TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

  Lijia Huang;Katarzyna Szymanska;Victor L. Jensen;Andreas R. Janecke

  228
  Citations

• Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

  Francois P. Bernier;Oana Caluseriu;Sarah Ng;Jeremy Schwartzentruber

  225
  Citations

• Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

  Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

  218
  Citations

• Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

  Georgia Ramantani;Jürgen Kohlhase;Christoph Hertzberg;A. Micheil Innes

  218
  Citations

• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

  Ashley L. Lennox;Mariah L. Hoye;Ruiji Jiang;Bethany L. Johnson-Kerner

  206
  Citations

• Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

  Svjetlana Lovric;Sara Goncalves;Sara Goncalves;Heon Yung Gee;Babak Oskouian

  191
  Citations

• Mutations in PIK3R1 Cause SHORT Syndrome

  David A. Dyment;Amanda C. Smith;Diana Alcantara;Jeremy A. Schwartzentruber

  182
  Citations

• Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

  Frank J. Kaiser;Morad Ansari;Diana Braunholz;María Concepción Gil-Rodríguez;María Concepción Gil-Rodríguez

  179
  Citations

• Recommendations for the integration of genomics into clinical practice.

  Sarah Bowdin;Adel Gilbert;Emma Bedoukian;Christopher Carew

  169
  Citations

• CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

  Kevin A. Strauss;Kevin A. Strauss;Kevin A. Strauss;Robert N. Jinks;Erik G. Puffenberger;Erik G. Puffenberger;Sundararajan Venkatesh

  153
  Citations