What is he best known for?
The fields of study he is best known for:
The scientist’s investigation covers issues in Genetics, Cornelia de Lange Syndrome, NIPBL, Mutation and Cohesin.
In most of his Genetics studies, his work intersects topics such as Molecular biology.
His Cornelia de Lange Syndrome study integrates concerns from other disciplines, such as Genetic testing, Medical diagnosis and Cohesin complex.
The study incorporates disciplines such as SMC1A, Dermatology, Prominent upper lip and Young adult in addition to NIPBL.
He has included themes like Intellectual disability and Bioinformatics in his Mutation study.
Cohesin is closely attributed to Roberts syndrome in his work.
His most cited work include:
- A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome (611 citations)
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay (481 citations)
- Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation (399 citations)
What are the main themes of his work throughout his whole career to date?
Matthew A. Deardorff focuses on Genetics, Cornelia de Lange Syndrome, Phenotype, NIPBL and Missense mutation.
His Genetics study focuses mostly on Cohesin complex, Mutation, Cohesin, Intellectual disability and SMC1A.
As a part of the same scientific study, Matthew A. Deardorff usually deals with the Cohesin, concentrating on Roberts syndrome and frequently concerns with ESCO2.
His studies in Cornelia de Lange Syndrome integrate themes in fields like Mutant, Immunology, Cohort and Developmental disorder.
His Phenotype research includes elements of Chromatin and Disease.
Matthew A. Deardorff interconnects Exome sequencing, Molecular biology and Pathology in the investigation of issues within Missense mutation.
He most often published in these fields:
- Genetics (73.68%)
- Cornelia de Lange Syndrome (36.40%)
- Phenotype (33.33%)
What were the highlights of his more recent work (between 2017-2021)?
- Phenotype (33.33%)
- Genetics (73.68%)
- Exome sequencing (19.74%)
In recent papers he was focusing on the following fields of study:
His primary areas of study are Phenotype, Genetics, Exome sequencing, Intellectual disability and Gene.
His biological study spans a wide range of topics, including Lineage, Unknown Significance, Somatic cell, Chromatin and Epigenetics.
His Disease research extends to the thematically linked field of Genetics.
His Exome sequencing study combines topics in areas such as Missense mutation, Internal medicine and Frameshift mutation.
His Missense mutation research incorporates elements of Scaffold protein, Establishment of sister chromatid cohesion, Cohesin and Short stature.
His Cornelia de Lange Syndrome study incorporates themes from Genetic counseling, KBG SYNDROME and Developmental disorder.
Between 2017 and 2021, his most popular works were:
- Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement (79 citations)
- Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects (44 citations)
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. (40 citations)
In his most recent research, the most cited papers focused on:
His primary scientific interests are in Genetics, Exome sequencing, Phenotype, Exome and Intellectual disability.
Genetics is connected with Diagnostic laboratory and Forebrain in his research.
His Exome sequencing research integrates issues from Missense mutation and Genomic Profile.
His studies deal with areas such as Internal medicine, Computational biology and Medical diagnosis as well as Exome.
Matthew A. Deardorff combines subjects such as Cornelia de Lange Syndrome, Upper limb, Autism spectrum disorder and Microcephaly with his study of Intellectual disability.
His research integrates issues of Anteverted nares, Dermatology, Hypertrichosis and NIPBL in his study of Cornelia de Lange Syndrome.
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