Daniel C Koboldt

7PUBLICATIONS
17CO-AUTHORS
Psychosocial aspects of childbirth and perinatal mental healthMultiphysics flows (incl. multiphase and reacting flows)Genome structure and regulationGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|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

|May 03, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi

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Frequent Collaborators

2 joint publications

Steven I Estes

2 joint publications

Bimal P Chaudhari

1 joint publications

Megan A Waldrop

1 joint publications

Stefano G Caraffi