Terra R. Coakley

Palo Alto University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index1.7kcitations54works7.82yr avg
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Research Topics

Genomics and Rare Diseases(18), Genetics and Neurodevelopmental Disorders(13), RNA Research and Splicing(7), Genomic variations and chromosomal abnormalities(7), Cellular transport and secretion(6)

Publications38 total

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications·2025· 2 citedOpen Access
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
BioData Mining·2025· 1 citedOpen Access
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine·2024· 32 citedOpen Access
De novo variants in DENND5B cause a neurodevelopmental disorder
The American Journal of Human Genetics·2024· 8 citedOpen Access
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
BMC Genomics·2024Open Access
Macrocephaly and developmental delay caused by missense variants in RAB5C
Human Molecular Genetics·2023· 4 citedOpen Access
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
The American Journal of Human Genetics·2023· 5 citedOpen Access
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
The Journal of Pediatrics·2023· 6 citedOpen Access
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Genetics in Medicine·2023· 7 citedOpen Access
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
The American Journal of Human Genetics·2023· 33 citedOpen Access
Participation in a national diagnostic research study: assessing the patient experience
Orphanet Journal of Rare Diseases·2023· 5 citedOpen Access
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Genetics in Medicine·2023· 5 citedOpen Access
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
npj Genomic Medicine·2023· 16 citedOpen Access
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Proceedings of the National Academy of Sciences·2023· 27 citedOpen Access
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Orphanet Journal of Rare Diseases·2023· 5 citedOpen Access
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Genetics in Medicine·2022· 1 citedOpen Access
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Brain·2022· 15 citedOpen Access
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Genetics in Medicine·2022· 16 citedOpen Access
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Human Molecular Genetics·2022· 13 citedOpen Access
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Genetics in Medicine·2021· 26 citedOpen Access
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Frequent Co-authors

Carlos A. Bacino(38), Devon Bonner(38), Joy D. Cogan(38), Anna Bican(37), Lauren C. Briere(37), Gary Clark(37), Heidi Cope(37), Elizabeth A. Burke(36), Lindsay C. Burrage(36), William J. Craigen(35), Ashok Balasubramanyam(33), Alan H. Beggs(33), Esteban C. Dell’Angelica(32), Hugo J. Bellen(31), Jonathan A. Bernstein(31), Dustin Baldridge(31), Gerard T. Berry(31), Hsiao‐Tuan Chao(30), Laurel A. Cobban(30), Cynthia M. Cooper(29)