Last Updated: 09/26/2026
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Found 43 publications
Personal journeys to and in human genetics and dysmorphology.
Journal: American journal of medical genetics. Part A
Published: November 05, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Journal: medRxiv : the preprint server for health sciences
Published: March 22, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Journal: HGG advances
Published: March 06, 2023
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Journal: American journal of human genetics
Published: May 02, 2020
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Journal: Autism research : official journal of the International Society for Autism Research
Published: December 20, 2019
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
Journal: Journal of autism and developmental disorders
Published: February 21, 2019
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Journal: American journal of human genetics
Published: February 10, 2019
Correction: 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.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 03, 2018
Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study.
Journal: American journal of medical genetics. Part A
Published: September 17, 2018
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Journal: The Journal of pediatrics
Published: September 02, 2018
Special education use in elementary school by children with nonsyndromic orofacial clefts.
Journal: Birth defects research
Published: June 29, 2018
Last Updated: 09/26/2026