What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Y chromosome, Male infertility, Gene and Y chromosome microdeletion.
His research in Genetics tackles topics such as Gonad which are related to areas like Cytogenetics.
The various areas that he examines in his Y chromosome study include Sexual Differentiation Disorder, Azoospermia, Azoospermia factor and X chromosome.
He has included themes like Karyotype and Turner syndrome in his Male infertility study.
His Gene research is multidisciplinary, incorporating perspectives in Receptor and Immunology.
His work investigates the relationship between Y chromosome microdeletion and topics such as Gynecology that intersect with problems in Genetic counseling and Intracytoplasmic sperm injection.
His most cited work include:
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis (2107 citations)
- Donor splice-site mutations in WT1 are responsible for Frasier syndrome. (581 citations)
- Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language (515 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Y chromosome, Gene, Testis determining factor and Internal medicine.
His study on Genetics is mostly dedicated to connecting different topics, such as Gonadal dysgenesis.
Ken McElreavey usually deals with Y chromosome and limits it to topics linked to Y chromosome microdeletion and Gynecology.
His study looks at the relationship between Testis determining factor and fields such as Sex reversal, as well as how they intersect with chemical problems.
His Internal medicine research focuses on subjects like Endocrinology, which are linked to Steroidogenic factor 1.
His Male infertility research is multidisciplinary, relying on both Andrology and Haplogroup.
He most often published in these fields:
- Genetics (61.11%)
- Y chromosome (29.37%)
- Gene (19.05%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (61.11%)
- Exome sequencing (10.71%)
- Disorders of sex development (12.70%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Genetics, Exome sequencing, Disorders of sex development, Missense mutation and Internal medicine.
His studies link Gonadal dysgenesis with Genetics.
The concepts of his Exome sequencing study are interwoven with issues in Genetic counseling, Candidate gene, Mutation and Genitourinary system.
Ken McElreavey interconnects Bioinformatics, Testis determining factor, SOX9, Computational biology and Cohort in the investigation of issues within Disorders of sex development.
His Missense mutation research includes elements of Sertoli cell, Uterus, RSPO1, Cell biology and Sex reversal.
His research in Internal medicine intersects with topics in Context, Endocrinology, Y chromosome and Proband.
Between 2014 and 2021, his most popular works were:
- Sperm global DNA methylation level: association with semen parameters and genome integrity. (67 citations)
- Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). (38 citations)
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet". (34 citations)
In his most recent research, the most cited papers focused on:
Ken McElreavey focuses on Genetics, Exome sequencing, Disorders of sex development, Gonadal dysgenesis and Mutation.
Genetics is a component of his Gene, Consanguinity, Nonsense, Transgene and Congenital myasthenic syndrome studies.
The Exome sequencing study combines topics in areas such as Internal medicine and Endocrinology.
His studies in Disorders of sex development integrate themes in fields like SOX9 and Function.
The various areas that Ken McElreavey examines in his Gonadal dysgenesis study include XY gonadal dysgenesis, Gene mutation and Sexual differentiation in humans.
His Mutation study incorporates themes from Phenotype, First year of life, Pediatrics and Genitourinary system.
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