Publications
Since its inception in 2017, the goal of the Rare Genomes Project has been three-fold:
- To identify genetic diagnoses for families
- To contribute to the understanding of the role of genes in human disease
- To develop methods, identify processes, and apply technologies (e.g., RNA sequencing, long read sequencing) that improve the diagnostic capabilities of genomic sequencing.
Below are links to publications and preprints about our work. This work would not be possible without the efforts and contributions of families participating in the Rare Genomes Project. We are grateful for the opportunity to work with you in search of genetic diagnoses for yourself or your loved ones.
Last updated: May 2025
Pre-print
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder, 2024. PMID pre-print: 39148819.
Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity, 2024. PMID pre-print: 38978649.
Mitochondrial DNA variant detection in rare disease families by systematic analysis of exome, genome, and RNA sequencing data, 2024. PMID pre-print: 39763565.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders, 2024. PMID pre-print: 38562733.
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency, 2023. PMID pre-print: 37662408.
2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases, 2025. PMID: 40241304.
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL, 2025. PMID: 39985170.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection, 2025. PMID: 39862869.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets, 2025. PMID: 39670433.
2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainability, 2024. PMID: 39669611.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model, 2024. PMID: 39531736.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene, 2024. PMID: 39442041.
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome, 2024. PMID: 39359946.
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation, 2024. PMID: 39095936.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes, 2024. PMID: 39013459.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome, 2024. PMID: 38991538.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency, 2024. PMID: 38868186.
Genome Sequencing for Diagnosing Rare Diseases, 2024. PMID: 38838312.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project, 2024. PMID: 38685113.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration, 2024. PMID: 38496416.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies, 2024. PMID: 38451290.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy, 2024. PMID: 38429495.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability, 2024. PMID: 38412861.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy, 2024. PMID: 38311799.
2023
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia, 2023. PMID: 38481935.
Advancing Understanding of Inequities in Rare Disease Genomics, 2023. PMID: 37517917.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder, 2023. PMID: 37057675.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly, 2023. PMID: 36724785.
2022
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain, 2022. PMID: 35934918.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort, 2022. PMID: 35579625.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency, 2022. PMID: 35094443.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes, 2022. PMID: 34954817.
2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy, 2021. PMID: 34415322.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating, 2021. PMID: 34245260.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders, 2021. PMID: 34186028.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation, 2021. PMID: 33665635.
DLG4-related synaptopathy: a new rare brain disorder, 2021. PMID: 33597769.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia, 2021. PMID: 33473207.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly, 2021. PMID: 33220177.