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E. Prijoles · SciRah

Researcher profile · Semantic Scholar

E. Prijoles

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E. Prijoles — researcher profile on SciRah

h-index: 12
Works: 25
Citations: 577

Most-cited papers

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
E. Bend, E. Aref-Eshghi, D. Everman, R. Rogers +20 more
2019Clinical Epigenetics95 citations Open access
Semantic Scholar
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2020American Journal of Human Genetics88 citations Open access
Semantic Scholar
Noonan Syndrome in Diverse Populations
P. Kruszka, A. R. Porras, Y. Addissie, A. Moresco +58 more
2017American Journal of Medical Genetics. Part A80 citations Open access
Semantic Scholar
Cohesin complex-associated holoprosencephaly.
P. Kruszka, Seth I. Berger, Valentina Casà, Mike R. Dekker +31 more
2019Brain : a journal of neurology63 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
A. Dingemans, Kim M. G. Truijen, Sam van de Ven, R. Bernier +31 more
2022Translational Psychiatry37 citations Open access
Semantic Scholar
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
R. V. van Jaarsveld, Jack Reilly, M. Cornips, M. A. Hadders +55 more
2022Genetics in Medicine30 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Rubinstein–Taybi syndrome in diverse populations
C. Tekendo-Ngongang, B. Owosela, Nicole J. Fleischer, Y. Addissie +39 more
2020American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
S. Hiatt, S. Trajkova, M. R. Sebastiano, E. C. Partridge +80 more
2022American Journal of Human Genetics17 citations Open access
Semantic Scholar
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
E. Bosch, B. Popp, Esther Güse, C. Skinner +68 more
2023medRxiv14 citations Open access
Semantic Scholar
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Amélie Cordovado, Martina Schaettin, M. Jeanne, Veranika Panasenkava +44 more
2022Human Molecular Genetics13 citations Open access
Semantic Scholar
Filling in the gaps on FILS syndrome: A case report and literature review
Chelsea Eason, Ahmad I. Aleisa, Julie R. Jones, E. Prijoles +1 more
2020Pediatric dermatology12 citations
Semantic Scholar
Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families
M. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, T. Balci +36 more
2023American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
Elizabeth A. Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo +26 more
2024Nature Communications8 citations Open access
Semantic Scholar
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report
John D. Odom, M. Gieron-Korthals, D. Shulman, P. Newkirk +2 more
2016Journal of Medical Case Reports6 citations Open access
Semantic Scholar
Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy
L. Eekhoff, J. Edwards, Ann S. Martin, E. Prijoles
2019Journal of Genetic Counseling5 citations
Semantic Scholar
Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2019bioRxiv4 citations Open access
Semantic Scholar
Development and evaluation of an educational resource for parents of children with 22q11.2 deletion syndrome about the psychiatric manifestations of the condition
K. Blankenship, Stephanie Chieffo, E. Morris, C. Slomp +4 more
2023Journal of Genetic Counseling2 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson +113 more
2025American Journal of Human Genetics1 citations
Semantic Scholar
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua, M. Aghanoori, Melissa MacPherson, Yi Ren +49 more
2026Journal of Clinical Investigation0 citations Open access
Semantic Scholar
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Elizabeth A. Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo +25 more
2022bioRxiv0 citations Open access
Semantic Scholar
Using pyrosequencing to determine the allele origin of 15q duplication syndrome
Wesley C. Patterson, F. Abidi, J. Gass, Amy Dobson +8 more
20210 citations
Semantic Scholar
Cohesin complex-associated holoprosencephaly
P. Kruszka, Seth I. Berger, Valentina Casà, Mike R. Dekker +31 more
20190 citations
Semantic Scholar
Cover Image, Volume 173A, Number 9, September 2017.
P. Kruszka, A. R. Porras, Y. Addissie, A. Moresco +58 more
2017American Journal of Medical Genetics. Part A0 citations
Semantic Scholar

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