Jonathan H Sheehan
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Explore the profile of Jonathan H Sheehan including associated specialties, affiliations and a list of published articles.
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37
Citations
1015
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Recent Articles
1.
Ezell K, Furuta Y, Oglesbee D, Pivnick E, Rinker D, Sheehan J, et al.
Mol Genet Metab Rep
. 2024 Oct;
41:101145.
PMID: 39435313
Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the gene. Most CDGs have an autosomal recessive (AR) mode of inheritance,...
2.
Grange D, Wegner D, Wambach J, Sisco K, Stone S, Sheehan J, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63854.
PMID: 39166407
We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1,...
3.
Moth C, Sheehan J, Al Mamun A, Sivley R, Gulsevin A, Rinker D, et al.
bioRxiv
. 2024 Aug;
PMID: 39149406
Effective diagnosis and treatment of rare genetic disorders requires the interpretation of a patient's genetic variants of unknown significance (VUSs). Today, clinical decision-making is primarily guided by gene-phenotype association databases...
4.
Sinclair M, Stein R, Sheehan J, Hawes E, OBrien R, Tajkhorshid E, et al.
PNAS Nexus
. 2024 Feb;
3(2):pgae036.
PMID: 38328777
Mediating the terminal reaction of gluconeogenesis and glycogenolysis, the integral membrane protein glucose-6-phosphate catalytic subunit 1 (G6PC1) regulates hepatic glucose production by catalyzing hydrolysis of glucose-6-phosphate (G6P) within the lumen...
5.
Sinclair M, Stein R, Sheehan J, Hawes E, OBrien R, Tajkhorshid E, et al.
bioRxiv
. 2023 Mar;
PMID: 36993754
Mediating the terminal reaction of gluconeogenesis and glycogenolysis, the integral membrane protein G6PC1 regulates hepatic glucose production by catalyzing hydrolysis of glucose-6-phosphate (G6P) within the lumen of the endoplasmic reticulum....
6.
Tinker R, Guess T, Rinker D, Sheehan J, Lubarsky D, Porath B, et al.
Mol Genet Genomic Med
. 2022 Sep;
10(12):e2054.
PMID: 36106513
Background: A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys...
7.
Mukherjee S, Cassini T, Hu N, Yang T, Li B, Shen W, et al.
HGG Adv
. 2022 Aug;
3(4):100131.
PMID: 36035247
Whole-exome sequencing (WES) in the clinic has identified several rare monogenic developmental and epileptic encephalopathies (DEE) caused by ion channel variants. However, WES often fails to provide actionable insight for...
8.
Hanker A, Brown B, Meiler J, Marin A, Jayanthan H, Ye D, et al.
Cancer Cell
. 2021 Jun;
39(8):1099-1114.e8.
PMID: 34171264
Activating mutations in HER2 (ERBB2) drive the growth of a subset of breast and other cancers and tend to co-occur with HER3 (ERBB3) missense mutations. The HER2 tyrosine kinase inhibitor...
9.
Schoeder C, Schmitz S, Adolf-Bryfogle J, Sevy A, Finn J, Sauer M, et al.
Biochemistry
. 2021 Mar;
60(11):825-846.
PMID: 33705117
Structure-based antibody and antigen design has advanced greatly in recent years, due not only to the increasing availability of experimentally determined structures but also to improved computational methods for both...
10.
Tilden D, Sheehan J, Newman J, Meiler J, Capra J, Ramirez A, et al.
J Endocr Soc
. 2020 Aug;
4(8):bvaa084.
PMID: 32803091
Context: Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a...