PatrickRyanSosnayMD

Pulmonology • Baltimore, MD

Critical Care Medicine

Assistant Professor of Medicine, Johns Hopkins University School of Medicine; Assistant Professor

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Office
600 N Wolfe St
Baltimore, MD 21287
Phone+1 410-955-3467
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Education & Training

Johns Hopkins UniversityFellowship, Pulmonary Disease and Critical Care Medicine, 2003 - 2008
Johns Hopkins UniversityResidency, Internal Medicine, 2000 - 2003
University of Wisconsin School of Medicine & Public HealthClass of 2000

Certifications & Licensure

MD State Medical License 2004 - 2025

Awards, Honors, & Recognition

CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2014

Publications & Presentations

PubMed

Transparency and diversity in cystic fibrosis research - Authors' reply.
Karen McCoy, Harry G.M. Heijerman, Jennifer L. Taylor-Cousar, David Waltz, Patrick R Sosnay, Bonnie W. Ramsey, Steven M. Rowe, John Welter> ;Lancet. 2020 Aug 29
629 citations
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation : a double...
Harry G.M. Heijerman, Edward F. McKone, Damian G. Downey, Eva Van Braeckel, Steven M. Rowe, Elizabeth Tullis, Marcus A. Mall, John Welter, Bonnie W. Ramsey, Charlotte ...> ;Lancet. 2019 Nov 23
35 citations
Decreased mRNA and protein stability of W1282X limits response to modulator therapy.
Melis A. Aksit, A.D. Bowling, Taylor A. Evans, Anya T. Joynt, Derek L. Osorio, S. Patel, Natalie E. West, Christian A. Merlo, Patrick R. Sosnay, Garry R. Cutting, Neer...> ;Journal of Cystic Fibrosis. 2019 Sep 1
68 citations
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
Allison F. McCague, Karen S. Raraigh, Matthew J. Pellicore, Emily F. Davis-Marcisak, Taylor A. Evans, Sangwoo T. Han, Zhongzhou Lu, Anya T. Joynt, Neeraj Sharma, Carlo...> ;American Journal of Respiratory and Critical Care Medicine. 2019 May 1
38 citations
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Neeraj Sharma, Taylor A. Evans, Matthew J. Pellicore, Emily Davis, Melis A. Aksit, Allison F. McCague, Anya T. Joynt, Zhongzhu Lu, Sangwoo T. Han, Arianna F. Anzmann, ...> ;Plos Genetics. 2018 Nov 16
38 citations
Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test.
Dong-Hoon Choi, Abigail Thaxton, In Cheol Jeong, Kain Kim, Patrick R. Sosnay, Garry R. Cutting, Peter C. Searson> ;Journal of Cystic Fibrosis. 2018 Jul 1
58 citations
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Karen S. Raraigh, Sangwoo T. Han, Emily Davis, Taylor A. Evans, Matthew J. Pellicore, Allison F. McCague, Anya T. Joynt, Zhongzhou Lu, Melis Atalar, Neeraj Sharma, Mol...> ;American Journal of Human Genetics. 2018 Jun 7
24 citations
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution
Barbara Bosch, Diana Bilton, Patrick R. Sosnay, Karen S. Raraigh, Denise Y.F. Mak, Hiroshi Ishiguro, Vincent Gulmans, Muriel Thomas, Harry Cuppens, Margarida D. Amaral...> ;Journal of Cystic Fibrosis. 2017 Jul 1
9 citations
Design, Implementation, and Evaluation of a Simulation-Based Clinical Correlation Curriculum as an Adjunctive Pedagogy in an Anatomy Course.
Carmen Coombs, Ryan Y. Shields, Elizabeth A. Hunt, Ying Wei Lum, Patrick R. Sosnay, Julianne S. Perretta, Rhett H. Lieberman, Nicole Shilkofski> ;Academic Medicine. 2017 Apr 1
49 citations
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
Patrick R. Sosnay, Danieli Salinas, Terry B. White, Clement L. Ren, Philip M. Farrell, Karen S. Raraigh, Emmanuelle Girodon, Carlo Castellani> ;The Journal of Pediatrics. 2017 Feb 1
493 citations
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Philip M. Farrell, Terry B. White, Clement L. Ren, Sarah E. Hempstead, Frank J. Accurso, Nico Derichs, Michelle S. Howenstine, Susanna A. McColley, Michael J. Rock, Ma...> ;The Journal of Pediatrics. 2017 Feb 1
39 citations
Diagnosis of Cystic Fibrosis in Nonscreened Populations.
Patrick R. Sosnay, Terry B. White, Philip M. Farrell, Clement L. Ren, Nico Derichs, Michelle S. Howenstine, Jerry A. Nick, Kris De Boeck> ;The Journal of Pediatrics. 2017 Feb 1
53 citations
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis
Joseph M. Collaco, Scott M. Blackman, Karen S. Raraigh, Harriet Corvol, Johanna M. Rommens, Rhonda G. Pace, Pierre-Yves Boëlle, John McGready, Patrick R. Sosnay, Lisa ...> ;American Journal of Respiratory and Critical Care Medicine. 2016 Dec 1
10 citations
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction
Neeraj Sharma, Jessica LaRusch, Patrick R. Sosnay, Laura B. Gottschalk, Andrea P. Lopez, Matthew J. Pellicore, Taylor A. Evans, Emily Davis, Melis Atalar, Chan Hyun Na...> ;American Journal of Physiology. Lung Cellular and Molecular Physiology. 2016 Dec 1
29 citations
Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype
Patrick R. Sosnay, Karen S. Raraigh, Ronald L. Gibson> ;Pediatric Clinics of North America. 2016 Aug 1
24 citations
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from ...
Danieli Salinas, Patrick R. Sosnay, Colleen Azen, Suzanne Young, Karen S. Raraigh, Thomas G. Keens, Martin Kharrazi> ;Plos One. 2016 May 23
32 citations
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
Yuelin Shen, Jinrong Liu, Lili Zhong, Peter J. Mogayzel, Pamela L. Zeitlin, Patrick R. Sosnay, Shunying Zhao> ;The Journal of Pediatrics. 2016 Apr 1
3 citations
Bias in CFTR screening panels.
Patrick R. Sosnay, Carlo Castellani, Christopher M. Penland, Johanna M. Rommens, Michelle Huckaby Lewis, Karen S. Raraigh, Mary Corey, Garry R. Cutting> ;Genetics in Medicine. 2016 Feb 1
3 citations
Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians
Patrick R. Sosnay, Philip M. Farrell> ;Pediatrics. 2015 Dec 1
29 citations
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants
Danieli Salinas, Patrick R. Sosnay, C. Azen, Suzanne Young, Karen S. Raraigh, Thomas G. Keens, Martin Kharrazi> ;Journal of Cystic Fibrosis. 2015 Nov 1
10 citations
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity
David L. Masica, Patrick R. Sosnay, Karen S. Raraigh, Garry R. Cutting, Rachel Karchin> ;Human Molecular Genetics. 2015 Apr 1
45 citations
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
Neeraj Sharma, Patrick R. Sosnay, Anabela S. Ramalho, Christopher Douville, Arianna Franca, Laura B. Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen ...> ;Human Mutation. 2014 Oct 1
11 citations
Interpretation of genetic variants
Patrick R. Sosnay, Garry R. Cutting> ;Thorax. 2014 Mar 1
413 citations
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor, Kyle Kaniecki, Haihui Yu, Neeraj Sharma, Anabela S. Ramalho, Margarida D. Amaral, Ruslan Dorfman, Julian Zielen...> ;Nature Genetics. 2013 Oct 1
18 citations
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
David L. Masica, Patrick R. Sosnay, Garry R. Cutting, Rachel Karchin> ;Human Mutation. 2012 Aug 1
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Journal Articles

Capitalizing on the Heterogeneous Effects of CFTR Nonsense and Frameshift Variants to Inform Therapeutic Strategy for Cystic Fibrosis
Natalie West, Christian Merlo, Garry R Cutting, Patrick R Sosnay, PLoS One

Press Mentions

International Experts Update Guidelines for Cystic Fibrosis DiagnosisFebruary 6th, 2017
Updated Cystic Fibrosis Diagnosis GuidelinesJanuary 31st, 2017
Team of International Researchers Updates Cystic Fibrosis Diagnostic GuidelinesFebruary 8th, 2017
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External Links

Johns Hopkins Physicianshttp://www.hopkinsmedicine.org/patrick-sosnay