Publication & Citation Trends
Publications
0 total
Personal journeys to and in human genetics and dysmorphology
Cited by 1
Semantic Scholar
Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic OA
Cited by 7
Semantic Scholar
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification OA
Cited by 1
Semantic Scholar
eP249: Practical implementation of inpatient rapid comprehensive sequencing for critically ill pediatric patients OA
Cited by 0
Semantic Scholar
eP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome OA
Cited by 0
Semantic Scholar
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability OA
Cited by 5
Semantic Scholar
eP217: Ophthalmology genetics clinic in the times of COVID-19: A hybrid model OA
Cited by 0
Semantic Scholar
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes OA
Cited by 12
Semantic Scholar
Cardiac phenotype in familial partial lipodystrophy OA
Cited by 25
Semantic Scholar
Untangling the Heterogeneity of Acquired Generalized Lipodystrophy OA
Cited by 1
Semantic Scholar
Research Topics
Congenital limb and hand anomalies
(23)
Developmental Biology and Gene Regulation
(22)
Genomic variations and chromosomal abnormalities
(18)
Congenital heart defects research
(15)
Genomics and Rare Diseases
(14)
Affiliations
University of Geneva
Children's National
The University of Texas MD Anderson Cancer Center
University of Miami
Baylor College of Medicine