Works by Sheehan, Jonathan H.

Results: 9

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63854

By:

Grange, Dorothy K.;
Wegner, Daniel J.;
Wambach, Jennifer A.;
Sisco, Kathleen A.;
Stone, Stephen I.;
Sheehan, Jonathan H.;
Ramsey, Keri M.;
Narayanan, Vinodh;
Rauen, Katherine A.;
Cole, F. Sessions

Publication type:

Article

Molecular Dynamics Simulation of Homo-DNA: The Role of Crystal Packing in Duplex Conformation.

Published in:

Crystals (2073-4352), 2019, v. 9, n. 10, p. 532, doi. 10.3390/cryst9100532

By:

Sheehan, Jonathan H.;
Smith, Jarrod A.;
Pallan, Pradeep S.;
Lybrand, Terry P.;
Egli, Martin

Publication type:

Article

Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL).

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 8, p. 1, doi. 10.1210/jendso/bvaa084

By:

Tilden, Daniel R;
Sheehan, Jonathan H;
Newman, John H;
Meiler, Jens;
Capra, John A;
Ramirez, Andrea;
Simmons, Jill;
Dahir, Kathryn

Publication type:

Article

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

Published in:

BMC Bioinformatics, 2018, v. 19, p. 1, doi. 10.1186/s12859-018-2010-z

By:

Sivley, R. Michael;
Sheehan, Jonathan H.;
Kropski, Jonathan A.;
Cogan, Joy;
Blackwell, Timothy S.;
Phillips, John A.;
Bush, William S.;
Meiler, Jens;
Capra, John A.

Publication type:

Article

Small-molecule ligand docking into comparative models with Rosetta.

Published in:

Nature Protocols, 2013, v. 8, n. 7, p. 1277, doi. 10.1038/nprot.2013.074

By:

Combs, Steven A;
DeLuca, Samuel L;
DeLuca, Stephanie H;
Lemmon, Gordon H;
Nannemann, David P;
Nguyen, Elizabeth D;
Willis, Jordan R;
Sheehan, Jonathan H;
Meiler, Jens

Publication type:

Article

Structural characterization of rare missense variants within known neurodegenerative disease proteins: Genetics/omics and systems biology.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.046405

By:

Palmer, Ellen L.;
Moth, Christopher;
Benchek, Penelope;
Wheeler, Nicholas R.;
Kunkle, Brian W.;
Hamilton‐Nelson, Kara L.;
Griswold, Anthony J.;
Naj, Adam C.;
Farrer, Lindsay A.;
Martin, Eden R.;
Pericak‐Vance, Margaret A.;
Haines, Jonathan L.;
Sheehan, Jonathan H.;
Capra, John A.;
Bush, William S.

Publication type:

Article

The role of Bruton’s tyrosine kinase in autoimmunity and implications for therapy.

Published in:

Expert Review of Clinical Immunology, 2016, v. 12, n. 7, p. 763, doi. 10.1586/1744666X.2016.1152888

By:

Crofford, Leslie J.;
Nyhoff, Lindsay E.;
Sheehan, Jonathan H.;
Kendall, Peggy L.

Publication type:

Article

A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054

By:

Tinker, Rory J.;
Guess, Tiffany;
Rinker, David C.;
Sheehan, Jonathan H.;
Lubarsky, Daniel;
Porath, Binu;
Mosera, Mackenzie;
Mayo, Ping;
Solem, Emily;
Lee, Laura A.;
Sharam, Asha;
Brault, Jennifer

Publication type:

Article

IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.686

By:

Newman, John H.;
Shaver, Aaron;
Sheehan, Jonathan H.;
Mallal, Simon;
Stone, John H.;
Pillai, Shiv;
Bastarache, Lisa;
Riebau, Derek;
Allard‐Chamard, Hugues;
Stone, William M.;
Perugino, Cory;
Pilkinton, Mark;
Smith, Scott A.;
McDonnell, Wyatt J.;
Capra, John A.;
Meiler, Jens;
Cogan, Joy;
Xing, Kelly;
Mahajan, Vinay S.;
Mattoo, Hamid

Publication type:

Article