What is he best known for?
The fields of study he is best known for:
- Mutation
- Gene
- Internal medicine
The scientist’s investigation covers issues in Genetics, Mutation, Missense mutation, Internal medicine and Endocrinology.
His work is connected to Gene, Phenotype, Microcephaly, Candidate gene and Nonsense mutation, as a part of Genetics.
He has included themes like Gene duplication, Molecular biology, Kabuki syndrome and DNA methylation in his Mutation study.
His studies deal with areas such as Frameshift mutation, Exon, Developmental disorder, Macrocephaly and Monocyte proliferation as well as Missense mutation.
His study on Noonan syndrome is often connected to Seipin as part of broader study in Internal medicine.
His Endocrinology study incorporates themes from Costello syndrome and HRAS.
His most cited work include:
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (774 citations)
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (563 citations)
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (467 citations)
What are the main themes of his work throughout his whole career to date?
Alain Verloes mainly investigates Genetics, Pathology, Internal medicine, Pediatrics and Anatomy.
His study in Genetics focuses on Gene, Mutation, Missense mutation, Phenotype and Microcephaly.
Alain Verloes mostly deals with Locus in his studies of Gene.
His Microcephaly study frequently draws connections to other fields, such as Intellectual disability.
In most of his Internal medicine studies, his work intersects topics such as Endocrinology.
His work on Anatomy deals in particular with Hypertelorism, Agenesis and Hypoplasia.
He most often published in these fields:
- Genetics (40.76%)
- Pathology (14.46%)
- Internal medicine (14.86%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (40.76%)
- Intellectual disability (7.83%)
- Phenotype (9.64%)
In recent papers he was focusing on the following fields of study:
Alain Verloes spends much of his time researching Genetics, Intellectual disability, Phenotype, Microcephaly and Bioinformatics.
His study in Gene, Missense mutation, Mutation, Exome sequencing and Genetic heterogeneity falls under the purview of Genetics.
His work in Phenotype is not limited to one particular discipline; it also encompasses Pathology.
His work investigates the relationship between Microcephaly and topics such as Lissencephaly that intersect with problems in Mitosis.
His biological study spans a wide range of topics, including Gene duplication, Haploinsufficiency, Disease and Genotype.
His Genotype study integrates concerns from other disciplines, such as Internal medicine and Allele.
Between 2014 and 2021, his most popular works were:
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (175 citations)
- CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions (82 citations)
- Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (80 citations)
In his most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
His primary areas of study are Genetics, Phenotype, Mutation, Missense mutation and Bioinformatics.
His is involved in several facets of Genetics study, as is seen by his studies on Microcephaly, Gene, Intellectual disability, Candidate gene and Haploinsufficiency.
His work focuses on many connections between Phenotype and other disciplines, such as Pathology, that overlap with his field of interest in Allelic heterogeneity, Prenatal diagnosis, Allele, Sequence analysis and Genetic testing.
His work deals with themes such as Kabuki syndrome, Hypoplasia, Voltage-gated potassium channel and Dravet syndrome, which intersect with Mutation.
He interconnects Molecular biology, Guanine nucleotide exchange factor, Craniofacial and Developmental disorder in the investigation of issues within Missense mutation.
His Bioinformatics study combines topics from a wide range of disciplines, such as Medical genetics, MSH2, Genotype, Human genetics and MSH6.
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