His research investigates the connection between Login and topics such as Computer security that intersect with issues in Personally identifiable information. In most of his Personally identifiable information studies, his work intersects topics such as Computer security. A. Micheil Innes brings together Gene and Exome sequencing to produce work in his papers. Many of his studies on Exome sequencing involve topics that are commonly interrelated, such as Phenotype. His research on Phenotype often connects related topics like Loss function. His research on Loss function frequently links to adjacent areas such as Gene. His research on Genetics frequently connects to adjacent areas such as Hypotonia. His Genetics research extends to the thematically linked field of Hypotonia. In his works, A. Micheil Innes undertakes multidisciplinary study on Missense mutation and Exon.
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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.
Nature Genetics (2012)
G protein-coupled receptor-dependent development of human frontal cortex.
Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang.
Science (2004)
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.
(2014)
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Sarah L Sawyer;Lei Tian;Marketta Kähkönen;Jeremy Schwartzentruber.
Cancer Discovery (2015)
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Julien H. Park;Max Hogrebe;Marianne Grüneberg;Ingrid DuChesne.
American Journal of Human Genetics (2015)
The Role of PIEZO2 in Human Mechanosensation
Alexander T. Chesler;Marcin Szczot;Diana Bharucha-Goebel;Marta Čeko.
The New England Journal of Medicine (2016)
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.
Nature Genetics (2017)
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.
American Journal of Human Genetics (2015)
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.
American Journal of Human Genetics (2011)
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.
Nature Cell Biology (2015)
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