Logic, rationality, and interaction: 7th international workshop, LORI 2019, Chongqing, China, October 18-21, 2019, proceedings

por Blackburn, Patrick, Lorini, Emiliano, Guo, Meiyun
Publicado 2019

Formalizing a Seligman-Style Tableau System for Hybrid Logic: (Short Paper)

por From, Asta Halkjær, Blackburn, Patrick, Villadsen, Jørgen
Publicado 2020

Holocarboxylase synthetase deficiency pre and post newborn screening

por Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.
Publicado 2016

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer

por Gass, Jennifer, Tatro, Madeline, Blackburn, Patrick, Hines, Stephanie, Atwal, Paldeep S.
Publicado 2017

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

por Gass, Jennifer, Blackburn, Patrick, Jackson, Jessica, Harris, Kimberly, Selcen, Duygu, Dimberg, Elliot, Atwal, Paldeep
Publicado 2017

Expanded phenotype in a patient with spastic paraplegia 7

por Gass, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay, Atwal, Paldeep S.
Publicado 2017

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

por Sunde, Kiri, Blackburn, Patrick R., Cheema, Anvir, Gass, Jennifer, Jackson, Jessica, Macklin, Sarah, Atwal, Paldeep S.
Publicado 2016

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

por Lara‐Velazquez, Montserrat, Perdomo‐Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
Publicado 2017

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

por Coban, Mathew A., Blackburn, Patrick R., Whitelaw, Murray L., van Haelst, Mieke M., Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2020

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation...

por Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Publicado 2017

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

por Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.
Publicado 2018

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

por Zimmermann, Michael T., Urrutia, Raul A., Blackburn, Patrick R., Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Macmurdo, Colleen, Atwal, Paldeep S.
Publicado 2017

No evidence of XMRV in prostate cancer cohorts in the Midwestern United States

por Sakuma, Toshie, Hué, Stéphane, Squillace, Karen A, Tonne, Jason M, Blackburn, Patrick R, Ohmine, Seiga, Thatava, Tayaramma, Towers, Greg J, Ikeda, Yasuhiro
Publicado 2011

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

por Thompson, Alex F, Blackburn, Patrick R, Arons, Noah S, Stevens, Sarah N, Babovic-Vuksanovic, Dusica, Lian, Jane B, Klee, Eric W, Stumpff, Jason
Publicado 2022

Maple syrup urine disease: mechanisms and management

por Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Publicado 2017

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

por DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2017

Integrin-Linked Kinase Is a Novel Therapeutic Target in Ovarian Cancer

por Ulm, Michael A., Redfern, Tiffany M., Wilson, Ben R., Ponnusamy, Suriyan, Asemota, Sarah, Blackburn, Patrick W., Wang, Yinan, ElNaggar, Adam C., Narayanan, Ramesh
Publicado 2020

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

por Richter, John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2018

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

por Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Publicado 2017

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

por Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic‐Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.
Publicado 2017