- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
Research at a glance
Top areas of exploration
- Mutation , 5 publications
- Abnormalities, Multiple , 5 publications
- Genetic Predisposition to Disease , 4 publications
- Heterozygote , 4 publications
Research activity
Active clinical trials
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 100 Years
- Sexes
- All
- Investigators
- Lizbeth Mellin-Sanchez, Pamela L Trapane
- Status
- Accepting Candidates
- Ages
- 0 Years - 17 Years
- Sexes
- All
My publications
Filter publications
24 publications
2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Human mutation
PubMed • Publisher's site2020
Genotype-phenotype correlation at codon 1740 of SETD2.
American journal of medical genetics. Part A
PubMed • Publisher's site2019
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
American journal of medical genetics. Part A
PubMed • Publisher's site2019
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genetics in medicine : official journal of the American College of Medical Genetics
PubMed • Publisher's site2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Human mutation
PubMed • Publisher's site