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Jane Juusola

Clinical application of whole-exome sequencing across clinical indications
2015 · Kyle Retterer, Jane Juusola, et al. · Genetics in Medicine · 1,036
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Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020 · Joanna Kaplanis, Kaitlin E. Samocha, et al. · Nature · 609
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Multiplex mRNA profiling for the identification of body fluids
2005 · Jane Juusola, Jack Ballantyne · Forensic Science International · 359
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015 · Lot Snijders Blok, Erik Madsen, et al. · The American Journal of Human Genetics · 305
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Messenger RNA profiling: a prototype method to supplant conventional methods for body fluid identification
2003 · Jane Juusola, Jack Ballantyne · Forensic Science International · 275
mRNA Profiling for Body Fluid Identification by Multiplex Quantitative RT‐PCR*
2007 · Jane Juusola, Jack Ballantyne · Journal of Forensic Sciences · 234
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
2016 · Ghayda Mirzaa, Andrew E. Timms, et al. · JCI Insight · 185
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
2017 · Sébastien Küry, Geeske M. van Woerden, et al. · The American Journal of Human Genetics · 183
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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
2017 · Carin L Yates, Kristin G Monaghan, et al. · Genetics in Medicine · 165
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Recovery and Stability of RNA in Vaginal Swabs and Blood, Semen, and Saliva Stains
2008 · Mindy Setzer, Jane Juusola, et al. · Journal of Forensic Sciences · 164
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
2015 · Akemi J. Tanaka, Megan T. Cho, et al. · The American Journal of Human Genetics · 154
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
2019 · Cynthia S. Gubbels, Grace E. VanNoy, et al. · Genetics in Medicine · 120
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
2016 · Michael D. Fountain, Emmelien Aten, et al. · Genetics in Medicine · 119
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
2020 · Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, et al. · The American Journal of Human Genetics · 107
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An mRNA and DNA co-isolation method for forensic casework samples
2004 · Michelle Alvarez, Jane Juusola, et al. · Analytical Biochemistry · 102
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
2022 · Phan Q. Duy, Stefan C. Weise, et al. · Nature Neuroscience · 98
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
2016 · Brieana Fregeau, Bum Jun Kim, et al. · The American Journal of Human Genetics · 93
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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
2017 · Cara M. Skraban, Constance F. Wells, et al. · The American Journal of Human Genetics · 91
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
2015 · Nadirah Damseh, Alexandre Simonin, et al. · Journal of Medical Genetics · 86
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
2016 · Volkan Okur, Megan T. Cho, et al. · Human Genetics · 85
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
2016 · Chun-An Chen, Daniëlle G.M. Bosch, et al. · Genetics in Medicine · 81
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
2016 · Frederike Leonie Harms, Katta M. Girisha, et al. · The American Journal of Human Genetics · 80
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
2019 · Michael D. Fountain, David S. Oleson, et al. · Genetics in Medicine · 78
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A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction
2016 · Qing Shao, Kristin Lindstrom, et al. · Journal of Biological Chemistry · 78
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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
2016 · Elizabeth J. Bhoj, Dong Li, et al. · The American Journal of Human Genetics · 74
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Works count: 169
Citation count: 7,516
H-index: 46
I10-index: 95
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