iHope Genetic Health
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Publications

iHope’s core mission is to provide equitable access to clinical genomic testing for children and families in underserved communities. By focusing on clinical care first, we help shorten diagnostic journeys and deliver answers to families who would otherwise lack access.

A secondary benefit of this work is contribution to the scientific literature. Because iHope serves populations that are rarely included in genomics, learnings from iHope help improve representation, expand knowledge of rare conditions in diverse ancestries, and demonstrate the impact of equitable access to genomic technologies.

Explore our publications below to learn more.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

Published on: 7/10/2025

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)

Published on: 5/16/2025

Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report

Published on : 3/29/2025

Clinical genome sequencing in patients with suspected rare genetic disease in Peru

Published on: 10/28/2024

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Published on: 6/6/24

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Published on: 5/2/2024

My Bantu vision of genomic medicine in Africa

Published on: 12/01/2023

Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Published on: 11/06/2023

Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Published on: 11/6/2023

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

Published on: 8/8/2023

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

Published on: 10/22/2022

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Published on: 9/10/2022

A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships

Published on: 6/2/2022

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

Published on: 3/15/2022

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Published on : 6/21/2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Published on : 6/10/2021

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Published on : 3/4/2021

Phenotypic and Imaging Spectrum Associated With WDR45

Published on: 08/15/2020

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder

Published on: 9/25/2019

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

Published on: 8/15/2019

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Published on: 02/14/2019

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Published on : 10/4/2018

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Published on : 2/15/2018