What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
His primary scientific interests are in Genetics, Mutation, Frameshift mutation, Gene and Internal medicine.
His research on Genetics often connects related topics like Hirschsprung's disease.
His Mutation research is multidisciplinary, incorporating elements of Immunopathology, BAAT, Penetrance, Ubiquitin ligase and Coenzyme A.
His Frameshift mutation research integrates issues from Autoimmune disease, Ubiquitin, Immunology and Candidate gene.
His Internal medicine study combines topics in areas such as Glutaric Acidemia Type 1, Endocrinology and Maple syrup urine disease.
His Gene mapping research incorporates elements of Disease gene identification, Genotyping, Exome, Sanger sequencing and Single-nucleotide polymorphism.
His most cited work include:
- A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease (773 citations)
- Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2 (470 citations)
- Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease (252 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Internal medicine, Endocrinology, Old Order Amish and Leucine are his primary areas of study.
His work is connected to Exome sequencing, Mutation, Gene, Single-nucleotide polymorphism and Allele, as a part of Genetics.
His work carried out in the field of Mutation brings together such families of science as Phenotype and Molecular biology.
In his work, Genotyping, Disease gene identification and Haplotype is strongly intertwined with Gene mapping, which is a subfield of Single-nucleotide polymorphism.
He interconnects Gastroenterology, Glutaric Acidemia Type 1 and Maple syrup urine disease in the investigation of issues within Internal medicine.
His research on Endocrinology also deals with topics like
- Brain development most often made with reference to Biochemistry,
- Methionine which connect with Methyltransferase.
He most often published in these fields:
- Genetics (72.31%)
- Internal medicine (53.85%)
- Endocrinology (40.00%)
What were the highlights of his more recent work (between 2016-2021)?
- Genetics (72.31%)
- Internal medicine (53.85%)
- Exome sequencing (14.62%)
In recent papers he was focusing on the following fields of study:
His primary areas of study are Genetics, Internal medicine, Exome sequencing, Allele and Cell biology.
Erik G. Puffenberger performs integrative study on Genetics and Extramural in his works.
His Internal medicine research includes themes of Endocrinology and Pharmacology.
Erik G. Puffenberger has included themes like Genetic diagnosis, Disease and Proband in his Exome sequencing study.
The Allele study combines topics in areas such as Sensorineural hearing loss, Mutation and Complementation.
His Cell biology study integrates concerns from other disciplines, such as Wild type, Lysosome and Epilepsy.
Between 2016 and 2021, his most popular works were:
- Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions (25 citations)
- Genomic diagnostics within a medically underserved population: efficacy and implications. (24 citations)
- Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. (21 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Erik G. Puffenberger focuses on Genetics, Tolerability, Pulmonary function testing, Sedation and Irritability.
His study in Dwarfism, Phenotype, Chromosomal region, Frameshift mutation and Haploinsufficiency is carried out as part of his studies in Genetics.
The concepts of his Dwarfism study are interwoven with issues in Craniofacial, Craniofacial abnormality and Short stature.
Spinal muscular atrophy, Catheter, Nusinersen, Anesthesia and Spinal fusion are fields of study that intersect with his Tolerability study.
Erik G. Puffenberger incorporates a variety of subjects into his writings, including Irritability, Progressive microcephaly, Global developmental delay, Young adult, Apgar score and Natural history.
His studies in Progressive microcephaly integrate themes in fields like Hearing loss, Physiology and Microcephaly.
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