Jacqueline R Harris
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Explore the profile of Jacqueline R Harris including associated specialties, affiliations and a list of published articles.
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8
Citations
59
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Recent Articles
1.
Kalinousky A, Luperchio T, Schrode K, Harris J, Zhang L, DeLeon V, et al.
Genes (Basel)
. 2024 Jan;
15(1).
PMID: 38254937
Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the...
2.
Qud D, Schmitt L, Leston A, Harris J, Slavotinek A, Riddle I, et al.
Front Genet
. 2023 Jul;
14:1116919.
PMID: 37415602
Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in lead to RSTS type...
3.
Harris J, Gao C, Britton J, Applegate C, Bjornsson H, Fahrner J
Hum Genet
. 2023 Mar;
143(4):607-624.
PMID: 36952035
The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individuals with rare disorders that involve disrupted epigenetics. Initially centered on classical imprinting disorders, the focus...
4.
Kalinousky A, Rapp T, Hijazi H, Johnson J, Bjornsson H, Harris J
Front Genet
. 2022 Oct;
13:1007046.
PMID: 36276984
Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation,...
5.
Montano C, Britton J, Harris J, Kerkhof J, Barnes B, Lee J, et al.
Am J Med Genet A
. 2022 Apr;
188(7):2217-2225.
PMID: 35384273
Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers...
6.
Kornmehl D, Patel E, Agrawal R, Harris J, Ba A, Ohyama H
J Dent Educ
. 2021 May;
85(9):1511-1517.
PMID: 33990132
Purpose/objective: Self-assessment is a fundamental skill for dentists and other health care providers. It enables these professionals' ability to critically evaluate the quality of their clinical work and improve through...
7.
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, et al.
Am J Med Genet A
. 2021 Mar;
185(6):1649-1665.
PMID: 33783954
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104...
8.
Harris J, Fahrner J
Curr Opin Psychiatry
. 2019 Jan;
32(2):55-59.
PMID: 30601169
Purpose Of Review: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. These Mendelian disorders of the epigenetic machinery (MDEMs) exhibit phenotypic overlap...