What is he best known for?
The fields of study he is best known for:
- Mutation
- Gene
- Internal medicine
His primary areas of study are Genetics, Pediatrics, Neurofibromatosis, Anatomy and Gene.
Genetics is closely attributed to Hearing loss in his work.
John C. Carey interconnects Edwards syndrome, Trisomy, Retrospective cohort study, Natural history and Fluorescence in situ hybridization in the investigation of issues within Pediatrics.
His Neurofibromatosis research integrates issues from Tibia, Surgery, Pseudarthrosis, Bioinformatics and Dysplasia.
His Anatomy study combines topics from a wide range of disciplines, such as Right umbilical vein, Omphalocele exstrophy imperforate anus, Neonatal hypocalcemia and OEIS Complex.
His Gene research includes themes of Molecular biology and Tropomyosin.
His most cited work include:
- The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. (1030 citations)
- Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. (891 citations)
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome (802 citations)
What are the main themes of his work throughout his whole career to date?
John C. Carey mainly investigates Genetics, Pediatrics, Anatomy, Neurofibromatosis and Internal medicine.
His study in Phenotype, Gene, Locus, Chromosome 17 and Karyotype is done as part of Genetics.
As part of one scientific family, John C. Carey deals mainly with the area of Pediatrics, narrowing it down to issues related to the Trisomy, and often Edwards syndrome.
He interconnects Tibia and Dysplasia in the investigation of issues within Neurofibromatosis.
His Dysplasia research is under the purview of Pathology.
Internal medicine is frequently linked to Endocrinology in his study.
He most often published in these fields:
- Genetics (29.11%)
- Pediatrics (16.89%)
- Anatomy (14.67%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (29.11%)
- Pediatrics (16.89%)
- Exome sequencing (3.11%)
In recent papers he was focusing on the following fields of study:
John C. Carey focuses on Genetics, Pediatrics, Exome sequencing, Trisomy and Wolf–Hirschhorn syndrome.
His study in Phenotype, Germline mutation, Exome, Loss of heterozygosity and Chromosome 17 is carried out as part of his Genetics studies.
His study looks at the relationship between Loss of heterozygosity and topics such as Chromosome, which overlap with Allelic Imbalance and Neurofibromatosis.
His Pediatrics research is multidisciplinary, incorporating perspectives in Presentation, Physical examination, Etiology and Cohort.
His biological study spans a wide range of topics, including Intervention, Trisomy 13 Syndrome, Wilms' tumor and Infant mortality.
His Wolf–Hirschhorn syndrome study incorporates themes from Genealogy, Intellectual disability, Craniofacial and Bioinformatics.
Between 2013 and 2021, his most popular works were:
- Wolf-Hirschhorn syndrome: A review and update. (71 citations)
- Etiology and clinical presentation of birth defects: population based study. (68 citations)
- Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing (62 citations)
In his most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
Genetics, Exome sequencing, Pediatrics, Phenotype and Trisomy are his primary areas of study.
His research brings together the fields of Bioinformatics and Genetics.
His Exome sequencing research includes elements of Germline mutation, Intellectual disability and Germline.
His Pediatrics study combines topics in areas such as Autism spectrum disorder, Chart review, Neurology, Etiology and Cohort.
The Null allele research John C. Carey does as part of his general Phenotype study is frequently linked to other disciplines of science, such as TSC1 and TSC2, therefore creating a link between diverse domains of science.
He combines subjects such as Retrospective cohort study, Developmental psychology, Postnatal Care, Disease management and Trisomy 13 Syndrome with his study of Trisomy.
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