A. Micheil Innes

A. Micheil Innes 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 A. Micheil Innes sits on this spectrum.

A. Micheil Innes 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 A. Micheil Innes sits on this spectrum.

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