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G. VanNoy · SciRah

Researcher profile · Semantic Scholar

G. VanNoy

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G. VanNoy — researcher profile on SciRah

h-index: 18
Works: 55
Citations: 1,631

Most-cited papers

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
O. Ceyhan-Birsoy, J. Murry, K. Machini, Matthew S. Lebo +34 more
2019American Journal of Human Genetics288 citations Open access
Semantic Scholar
Genome Sequencing for Diagnosing Rare Diseases
M. Wojcik, G. Lemire, Eva Berger, M. Zaki +85 more
2024New England Journal of Medicine148 citations Open access
Semantic Scholar
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S. Gubbels, G. VanNoy, J. Madden, Deborah Copenheaver +12 more
2019Genetics in Medicine134 citations Open access
Semantic Scholar
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, A. Ljungdahl +115 more
2024Nature122 citations Open access
Semantic Scholar
seqr: a web-based analysis and collaboration tool for rare disease genomics
L. Pais, Hana Snow, B. Weisburd, Shi-Fa Zhang +21 more
2021medRxiv103 citations Open access
Semantic Scholar
Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project
C. Genetti, Talia S. Schwartz, J. Robinson, G. VanNoy +13 more
2018Genetics in Medicine91 citations Open access
Semantic Scholar
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
C. Depienne, C. Nava, B. Keren, S. Heide +57 more
2017Human Genetics76 citations Open access
Semantic Scholar
Emerging roles and opportunities for rare disease patient advocacy groups
A. Patterson, M. O'Boyle, G. VanNoy, K. Dies
2023Therapeutic Advances in Rare Disease66 citations Open access
Semantic Scholar
Infant Mortality: the Contribution of Genetic Disorders
M. Wojcik, Talia S. Schwartz, Katri Thiele, Heather L Paterson +9 more
2019Journal of Perinatology66 citations Open access
Semantic Scholar
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M. Baxter, J. Posey, N. Lake, N. Sobreira +238 more
2021medRxiv65 citations Open access
Semantic Scholar
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
Guoliang Chai, A. Webb, Chen Li, D. Antaki +33 more
2020Neuron47 citations Open access
Semantic Scholar
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
A. R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, S. Bertelli +35 more
2021American Journal of Human Genetics37 citations Open access
Semantic Scholar
Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia
Alison M. Muir, J. Gardner, R. V. van Jaarsveld, I. D. de Lange +52 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
S. Jansen, I. M. van der Werf, A. Innes, A. Afenjar +47 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, B. Weisburd, E. Dolzhenko, G. VanNoy +4 more
2024medRxiv24 citations Open access
Semantic Scholar
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
A. Töpf, D. Cox, I. Zaharieva, Valeria Di Leo +81 more
2024Nature Genetics21 citations Open access
Semantic Scholar
Challenging the Current Recommendations for Carrier Testing in Children
G. VanNoy, C. Genetti, A. McGuire, R. Green +2 more
2019Pediatrics21 citations Open access
Semantic Scholar
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, M. Koko +19 more
2021Human Molecular Genetics19 citations Open access
Semantic Scholar
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.
Mindy S. Lo, Meghan C. Towne, G. VanNoy, C. Brownstein +3 more
2018Journal of Autoimmunity19 citations
Semantic Scholar
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Shloka Negi, S. Stenton, Seth I. Berger, B. McNulty +18 more
2024medRxiv18 citations Open access
Semantic Scholar
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
S. L. Stenton, M. O’Leary, G. Lemire, G. VanNoy +70 more
2023Human Genomics18 citations Open access
Semantic Scholar
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
P. Kipkemoi, H. Kim, B. Christ, E. O'Heir +31 more
2023Neuron17 citations Open access
Semantic Scholar
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report
Chrystal F. Mavros, C. Brownstein, Roshni Thyagrajan, C. Genetti +11 more
2018BMC Medical Genetics16 citations Open access
Semantic Scholar
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, S. Stenton +93 more
2024medRxiv14 citations Open access
Semantic Scholar
Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
Bianca Quiñones-Pérez, G. VanNoy, Meghan C. Towne, Yi-Ping Shen +3 more
2018American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Advancing Understanding of Inequities in Rare Disease Genomics
Jillian G. Serrano, M. O’Leary, G. VanNoy, B. Mangilog +5 more
2023Clinical Therapeutics13 citations Open access
Semantic Scholar
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Yoel Gofin, Tianyun Wang, M. Gillentine, Tiana M. Scott +20 more
2022Human Mutation13 citations Open access
Semantic Scholar
Quantifying Downstream Health Care Utilization in Studies of Genomic Testing
Z. Mackay, D. Dukhovny, K. Phillips, A. Beggs +28 more
2020Value in Health11 citations Open access
Semantic Scholar
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Noelle A. Sterling, A. R. Duncan, Raehee Park, D. Koolen +17 more
2020Human Molecular Genetics10 citations Open access
Semantic Scholar
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, B. Weisburd, E. Dolzhenko, V. Rubinetti +6 more
2025Genome Medicine8 citations Open access
Semantic Scholar
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report
J. Murry, K. Machini, O. Ceyhan-Birsoy, A. Kritzer +13 more
2018Cold Spring Harbor molecular case studies8 citations Open access
Semantic Scholar
HCN2-associated neurodevelopmental disorders: data from patients and Xenopus cell models
Clara Houdayer, A. M. Phillips, Marie Chabbert, Jennifer Bourreau +49 more
2025Annals of Neurology6 citations Open access
Semantic Scholar
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
L. Dofash, L. B. Miles, Y. Saito, E. Rivas +37 more
2024Brain : a journal of neurology6 citations
Semantic Scholar
A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing
Alissa M. D'Gama, W. Brucker, Tian Zhang, Cynthia S. Gubbels +9 more
2020American Journal of Medical Genetics. Part A6 citations Open access
Semantic Scholar
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, D. Cocciadiferro +48 more
2025American Journal of Human Genetics5 citations Open access
Semantic Scholar
Advancing Understanding of Inequities in Rare Disease Genomics
Jillian G. Serrano, M. O’Leary, G. VanNoy, Ingrid A. Holm +4 more
2023medRxiv5 citations Open access
Semantic Scholar
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia
Alexander S. Wang, G. Lemire, G. VanNoy, C. Austin-Tse +2 more
2023Journal of Pediatric Neurology online5 citations Open access
Semantic Scholar
Wide Range of Phenotypic Severity in Individuals with Late Truncations Unique to the Predominant CDKL5 Transcript in the Brain
L. Keehan, Isa Haviland, Yoel Gofin, L. Swanson +21 more
2022American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease
G. VanNoy, M. Wojcik, C. Genetti, T. Mullen +2 more
2020Kidney International Reports5 citations Open access
Semantic Scholar
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
Elizabeth Carbonell, S. Stenton, V. Ganesh, Jia-Lan Ma +6 more
2025HGG advances4 citations Open access
Semantic Scholar
De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, L. Pais +12 more
2024iScience4 citations Open access
Semantic Scholar
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
M. Wojcik, G. Lemire, M. Zaki, Mariel Wissman +71 more
2023medRxiv4 citations Open access
Semantic Scholar
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
L. Dofash, L. B. Miles, Y. Saito, E. Rivas +35 more
2023medRxiv3 citations Open access
Semantic Scholar
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
M. Serey-Gaut, M. Cortés, P. Makrythanasis, M. Suri +45 more
2023American Journal of Human Genetics3 citations Open access
Semantic Scholar
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
J. Del-Pozo-Rodrigez, P. Tilly, R. Lecat, H. R. Vaca +27 more
2024medRxiv2 citations Open access
Semantic Scholar
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, L. Pais +12 more
2023medRxiv2 citations Open access
Semantic Scholar
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodríguez, Peggy Tilly, R. Lecat, Hugo Rolando Vaca +55 more
2025Brain : a journal of neurology1 citations Open access
Semantic Scholar
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
Clara Houdayer, A. M. Phillips, Marie Chabbert, Jennifer Bourreau +49 more
2024medRxiv1 citations Open access
Semantic Scholar
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
A. Sanchis-Juan, Yulia Mostovoy, S. Stenton, V. Ganesh +82 more
2026medRxiv0 citations Open access
Semantic Scholar
Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary, L. Pais +51 more
2026medRxiv0 citations Open access
Semantic Scholar

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