Adriana T Gomes

7PUBLICATIONS
23CO-AUTHORS
Cancer geneticsEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)NeonatologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Sep 01, 2026
Spinal Involvement in Charge Syndrome: Implications for Management.

|Dec 29, 2025
KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Adriana Gomes, Álvaro Martín-Rodríguez, Miguel Del Campo

|Aug 13, 2025
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah

|Aug 07, 2025
Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez

|Jul 04, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze

|Dec 16, 2024
Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).

Adriana T Gomes, Amanda Moore, Meagan Cross

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Frequent Collaborators

7 joint publications

Lynne M Bird

4 joint publications

Álvaro Martín-Rodríguez

1 joint publications

Carolina I Galarreta

1 joint publications

Tinatin Tkemaladze