Daniel C Koboldt

8PUBLICATIONS
21CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Psychosocial aspects of childbirth and perinatal mental healthMultiphysics flows (incl. multiphase and reacting flows)Genome structure and regulationGene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

|Aug 19, 2026
Familial Isolated Tetralogy of Fallot Associated With JAG1 Variant: Justifying Phenotype-Agnostic Genetic Workup for Critical Congenital Heart Disease.

|Nov 07, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum

|Oct 11, 2025
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Iftekhar A Showpnil, Allison Daley, Emily R Sites

|Aug 07, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GAND.

Mari Mori, Steven Estes, Swetha Ramadesikan

|Jul 24, 2025
Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.

Alayne P Meyer, Daniel C Koboldt, Swetha Ramadesikan

|Jun 02, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

Brandon S Stone, Swetha Ramadesikan, Regan McGinley

Pageof 2

Frequent Collaborators

3 joint publications

Bimal P Chaudhari

2 joint publications

Steven I Estes

1 joint publications

Megan A Waldrop

1 joint publications

Stefano G Caraffi