Luis F. Escobar

Luis F. Escobar

Medical Genetics | Anesthesiology | Pediatrics

8402 Harcourt Rd
Ste 300
Indianapolis, IN 46260

Last Updated: 09/26/2026

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Found 27 publications

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: February 12, 2026

A survey study on knowledge, comfort, and confidence in gender-affirming care among pharmacy students following a two-phased educational intervention.

A survey study on knowledge, comfort, and confidence in gender-affirming care among pharmacy students following a two-phased educational intervention.

Journal: Currents in pharmacy teaching & learning

Published: July 25, 2025

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: April 07, 2025

PTPN4 germline variants result in aberrant neurodevelopment and growth.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Journal: HGG advances

Published: September 16, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Journal: Genome medicine

Published: September 02, 2020

Cohesin complex-associated holoprosencephaly.

Cohesin complex-associated holoprosencephaly.

Journal: Brain : a journal of neurology

Published: March 05, 2019

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Journal: American journal of medical genetics. Part A

Published: January 03, 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Journal: American journal of human genetics

Published: December 20, 2018

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 11, 2018

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 17, 2018

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Journal: Human molecular genetics

Published: April 11, 2018

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

Journal: Cold Spring Harbor molecular case studies

Published: May 06, 2016

Showing 1-12 of 27

Last Updated: 09/26/2026