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J. Vogt · SciRah

Researcher profile · Semantic Scholar

J. Vogt

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J. Vogt — researcher profile on SciRah

h-index: 33
Works: 79
Citations: 4,959

Most-cited papers

Large-scale discovery of novel genetic causes of developmental disorders
T. Fitzgerald, SS Gerety, WD Jones, M. van Kogelenberg +261 more
2014Nature1,070 citations Open access
Semantic Scholar
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Y. Crow, D. Chase, Johanna L. Schmidt, M. Szynkiewicz +132 more
2015American Journal of Medical Genetics. Part A562 citations Open access
Semantic Scholar
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
G. Rice, G. Forte, M. Szynkiewicz, D. Chase +52 more
2013Lancet Neurology423 citations Open access
Semantic Scholar
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
E. Fotiou, S. Martin-Almedina, M. Simpson, Shin Lin +14 more
2015Nature Communications308 citations Open access
Semantic Scholar
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, G. Poke, Quentin R. V. Ferry, K. Williamson +71 more
2014Journal of Medical Genetics165 citations Open access
Semantic Scholar
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A. Brunklaus, Tobias Brünger, Tony Feng, C. Fons +31 more
2022Brain : a journal of neurology146 citations Open access
Semantic Scholar
Human Mutation
G. Rice, Sehoon Park, F. Gavazzi, L. Adang +61 more
2020134 citations Open access
Semantic Scholar
Clinical and Genetic Aspects of KBG Syndrome
K. Low, T. Ashraf, N. Canham, J. Clayton-Smith +26 more
2016American Journal of Medical Genetics. Part A133 citations Open access
Semantic Scholar
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
G. Houge, Dorien Haesen, L. Vissers, S. Mehta +24 more
2015Journal of Clinical Investigation121 citations Open access
Semantic Scholar
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
J. Meester, G. Vandeweyer, I. Pintelon, M. Lammens +19 more
2016Genetics in Medicine108 citations Open access
Semantic Scholar
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
J. Vogt, B. Harrison, H. Spearman, J. Cossins +5 more
2008American Journal of Human Genetics108 citations Open access
Semantic Scholar
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Jung-Hyun Kim, D. Shinde, M. Reijnders, N. Hauser +60 more
2016American Journal of Human Genetics106 citations Open access
Semantic Scholar
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
M. Reijnders, V. Zachariadis, Brooke L. Latour, L. Jolly +33 more
2016American Journal of Human Genetics104 citations Open access
Semantic Scholar
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
P. Blanchet, M. Bebin, Shaam Bruet, Gregory M. Cooper +13 more
2017PLoS Genetics75 citations Open access
Semantic Scholar
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
A. O'Donnell-Luria, L. Pais, V. Faundes, J. Wood +81 more
2019bioRxiv74 citations Open access
Semantic Scholar
Germline mutation in DOK7 associated with fetal akinesia deformation sequence
J. Vogt, Neil V. Morgan, T. Marton, S. Maxwell +3 more
2009Journal of Medical Genetics71 citations Open access
Semantic Scholar
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Hannah Sleven, S. Welsh, Jing Yu, M. E. Churchill +17 more
2017American Journal of Human Genetics64 citations Open access
Semantic Scholar
Further Delineation of the KAT6B Molecular and Phenotypic Spectrum
Tamsin Gannon, R. Perveen, H. Schlecht, S. Ramsden +55 more
2014European Journal of Human Genetics64 citations Open access
Semantic Scholar
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
G. Rice, Sehoon Park, F. Gavazzi, L. Adang +59 more
2020Human Mutation58 citations Open access
Semantic Scholar
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
K. Low, Morad Ansari, R. Jamra, A. Clarke +20 more
2017European Journal of Human Genetics54 citations Open access
Semantic Scholar
CHRNG genotype–phenotype correlations in the multiple pterygium syndromes
J. Vogt, N. Morgan, P. Rehal, L. Faivre +11 more
2011Journal of Medical Genetics53 citations
Semantic Scholar
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Yi Ng, C. Alston, D. Diodato, A. Morris +30 more
2016Journal of Medical Genetics50 citations Open access
Semantic Scholar
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more
2016bioRxiv50 citations Open access
Semantic Scholar
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
A. Foster, Anna Zachariou, C. Loveday, T. Ashraf +25 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics48 citations Open access
Semantic Scholar
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
G. Slaats, C. R. Isabella, H. Kroes, J. Dempsey +23 more
2015Journal of Medical Genetics47 citations Open access
Semantic Scholar
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
F. Vetrini, S. McKee, J. Rosenfeld, M. Suri +53 more
2019Genome Medicine44 citations Open access
Semantic Scholar
Variants in nuclear factor I genes influence growth and development
M. Zenker, J. Bunt, I. Schanze, D. Schanze +8 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics44 citations Open access
Semantic Scholar
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Emma A. Hall, M. Nahorski, Lyndsay M. Murray, R. Shaheen +31 more
2017American Journal of Human Genetics40 citations Open access
Semantic Scholar
Unique Case of Helicobacter sp. Osteomyelitis in an Immunocompetent Child Diagnosed by Broad-Range 16S PCR
K. Harris, K. Fidler, J. Hartley, J. Vogt +3 more
2002Journal of Clinical Microbiology39 citations Open access
Semantic Scholar
Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
J. Vogt, S. Agrawal, Zala Ibrahim, T. Southwood +5 more
2013American Journal of Medical Genetics. Part A38 citations Open access
Semantic Scholar
The tale of a nail sign in chromosome 4q34 deletion syndrome
J. Vogt, Ethel Ryan, M. Tischkowitz, W. Reardon +1 more
2006Clinical Dysmorphology37 citations
Semantic Scholar
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect
E. Webb, M. Balasubramanian, N. Fratzl-Zelman, Wayne A. Cabral +15 more
2017Journal of Clinical Endocrinology and Metabolism36 citations Open access
Semantic Scholar
PURA-Related Developmental and Epileptic Encephalopathy
K. Johannesen, E. Gardella, C. E. Gjerulfsen, A. Bayat +101 more
2021Neurology: Genetics35 citations Open access
Semantic Scholar
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
M. Jeanne, Hélène Demory, Aubin Moutal, M. Vuillaume +37 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Hanyin Cheng, Simona Capponi, E. Wakeling, E. Marchi +52 more
2019Human Mutation31 citations Open access
Semantic Scholar
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
A. McKie, A. Alsaedi, J. Vogt, K. Stuurman +10 more
2014Acta Neuropathologica Communications30 citations Open access
Semantic Scholar
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome
D. Schanze, D. Neubauer, V. Cormier-Daire, M. Delrue +14 more
2014Human Mutation28 citations Open access
Semantic Scholar
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
J. Radley, R. O'Sullivan, Sarah E Turton, H. Cox +12 more
2019Clinical Genetics27 citations
Semantic Scholar
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani, S. Albaba, D. A. Carere, M. J. Guillen Sacoto +50 more
2021American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
A. Bayat, A. Knaus, A. Juul, D. Dukic +23 more
2019Genetics in Medicine25 citations Open access
Semantic Scholar
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Andrew K. Sobering, L. Bryant, Dong Li, J. Mcgaughran +35 more
2022HGG advances24 citations Open access
Semantic Scholar
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
A. Sanchis-Juan, Karyn Megy, J. Stephens, Camila Armirola Ricaurte +27 more
2023medRxiv21 citations Open access
Semantic Scholar
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Wen-Qiang Zheng, S. V. Pedersen, K. Thompson, E. Bellacchio +16 more
2021Human Molecular Genetics21 citations
Semantic Scholar
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
Asheeta Gupta, I. Colmenero, N. Ragge, E. Blakely +5 more
2016BMC Research Notes19 citations Open access
Semantic Scholar
[Severe light dermatosis following photo therapy in a newborn infant with congenital erythropoietic urophyria].
O. Tönz, J. Vogt, L. Filippini, F. Simmler +2 more
1975Helvetica paediatrica acta19 citations
Semantic Scholar
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
I. Van Gucht, J. Meester, J. R. Bento, M. Bastiaansen +43 more
2021American Journal of Human Genetics18 citations Open access
Semantic Scholar
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
N. Ulrick, A. Goldstein, C. Simons, R. Taft +19 more
2017Pediatric Neurology18 citations Open access
Semantic Scholar
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies
Jonathan D. J. Labonne, J. Vogt, L. Reali, Ilkeun Kong +2 more
2015American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
M. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, M. Niceta +53 more
2022Clinical Genetics14 citations Open access
Semantic Scholar
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
A. Accogli, Sheng-Jia Lin, M. Severino, Sung-Hoon Kim +55 more
2023Genetics in Medicine13 citations Open access
Semantic Scholar

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