Bryce A. Mendelsohn

ScholarGPS® ID: 89411282958462

Affiliation

Kaiser Permanente, Oakland, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics | Metabolism | Molecular Genetics

Metrics Summary

Publication Count

Predicted Citations

1,137

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype (journal article) Tise, Christina G. \| Verscaj, Courtney P. \| Mendelsohn, Bryce A. \| Woods, Jeremy \| Lee, Chung U. \| Enns, Gregory M. \| Stander, Zinandré \| Hall, Patricia L. \| Cowan, Tina M. \| Cusmano‐Ozog, Kristina P. American Journal of Medical Genetics Part A, volume 191, issue 6, pages 1492-1501 (2023). 10.1002/ajmg.a.63159 Cited by (5) \| Cite \| Source
Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy (journal article) Niehaus, Annie D. \| Mendelsohn, Bryce A. \| Zimmerman, Bree \| Lee, Chung U. \| Manning, Melanie A. \| Cusmano‐Ozog, Kristina P. \| Tise, Christina G. American Journal of Medical Genetics Part A, volume 191, issue 5, pages 1412-1417 (2023). 10.1002/ajmg.a.63144 Cited by (3) \| Cite \| Source
IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH (journal article) Stander, Zinandré \| Ammous, Zineb \| Werker, Joanne \| Miller, Marcus \| Sapp, Katherine \| Hainline, Bryan \| Mendelsohn, Bryce \| Studinski, April \| Schultz, Matthew \| Hall, Patricia \| ... \| Gavrilov, Dimitar Molecular Genetics and Metabolism, volume 138, issue 3, pages 107494- (2023). 10.1016/j.ymgme.2023.107494 Cite \| Source
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair (journal article) Grant, Nathan \| Sohn, Young Bae \| Ellinwood, N. Matthew \| Okenfuss, Ericka \| Mendelsohn, Bryce A. \| Lynch, Leslie E. \| Braunlin, Elizabeth A. \| Harmatz, Paul R. \| Eisengart, Julie B. Molecular Genetics and Metabolism Reports, volume 30 (2022). 10.1016/j.ymgmr.2022.100845 Cited by (9) \| Cite \| Source
Timing is everything in Hunter syndrome: Differential clinical courses associated with age at initiation of therapy in a sibling pair (journal article) Grant, Nathan \| Sohn, Young Bae \| Ellinwood, N. Matthew \| Okenfuss, Ericka \| Mendelsohn, Bryce A. \| Harmatz, Paul R. \| Eisengart, Julie B. Molecular Genetics and Metabolism, volume 135, issue 2, pages S51- (2022). 10.1016/j.ymgme.2021.11.124 Cite \| Source
Long-term Speech Outcomes of Cleft Palate Repair in Robin Sequence versus Isolated Cleft Palate (journal article) Logjes, Robrecht J. H. \| Upton, Susanna \| Mendelsohn, Bryce A. \| Badiee, Ryan K. \| Breugem, Corstiaan C. \| Hoffman, William Y. \| Pomerantz, Jason H. Plastic and Reconstructive Surgery - Global Open, volume 9, issue 1, pages e3351- (2021). 10.1097/GOX.0000000000003351 Cited by (13) \| Cite \| Source
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy (journal article) Hawer, Harmen \| Mendelsohn, Bryce A. \| Mayer, Klaus \| Kung, Ann \| Malhotra, Amit \| Tuupanen, Sari \| Schleit, Jennifer \| Brinkmann, Ulrich \| Schaffrath, Raffael European Journal of Human Genetics, volume 28, issue 11, pages 1497-1508 (2020). 10.1038/s41431-020-0668-y Cited by (17) \| Cite \| Source
Defining the ATPome reveals cross-optimization of metabolic pathways (journal article) Bennett, Neal K. \| Nguyen, Mai K. \| Darch, Maxwell A. \| Nakaoka, Hiroki J. \| Cousineau, Derek \| ten Hoeve, Johanna \| Graeber, Thomas G. \| Schuelke, Markus \| Maltepe, Emin \| Kampmann, Martin \| ... \| Nakamura, Ken Nature Communications, volume 11, issue 1 (2020). 10.1038/s41467-020-18084-6 Cited by (17) \| Cite \| Source
A novel truncating variant in ring finger protein 113A ( RNF113A ) confirms the association of this gene with X‐linked trichothiodystrophy (journal article) Mendelsohn, Bryce A. \| Beleford, Daniah T. \| Abu‐El‐Haija, Aya \| Alsaleh, Norah S. \| Rahbeeni, Zuhair \| Martin, Pierre‐Marie \| Rego, Shannon \| Huang, Alyssa \| Capodanno, Gina \| Shieh, Joseph T. \| ... \| Slavotinek, Anne M. American Journal of Medical Genetics Part A, volume 182, issue 3, pages 513-520 (2020). 10.1002/ajmg.a.61450 Cited by (12) \| Cite \| Source
Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia (journal article) Gelfand, Jeffrey M \| Greenfield, Ariele L \| Barkovich, Matthew \| Mendelsohn, Bryce A \| Van Haren, Keith \| Hess, Christopher P \| Mannis, Gabriel N Brain, volume 143, issue 2, pages 503-511 (2020). 10.1093/brain/awz390 Cited by (40) \| Cite \| Source
Imaging the Whole Genome in Diagnosing Neurologic Disorders (journal article) Mendelsohn, Bryce A. JAMA Neurology, volume 76, issue 12, pages 1419- (2019). 10.1001/jamaneurol.2019.3117 Cite \| Source
Response to Biesecker (journal article) Mendelsohn, Bryce A. \| Sabbadini, Marta Genetics in Medicine, volume 21, issue 3, pages 762- (2019). 10.1038/s41436-018-0133-2 Cite \| Source
A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure (journal article) Mendelsohn, Bryce A. \| Bennett, Neal K. \| Darch, Maxwell A. \| Yu, Katharine \| Nguyen, Mai K. \| Pucciarelli, Daniela \| Nelson, Maxine \| Horlbeck, Max A. \| Gilbert, Luke A. \| Hyun, William \| ... \| Nakamura, Ken PLOS Biology, volume 16, issue 8, pages e2004624- (2018). 10.1371/journal.pbio.2004624 Cited by (39) \| Cite \| Source \| Open Access
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys) (journal article) Hirabayashi, Kristin E. \| Moore, Anthony T. \| Mendelsohn, Bryce A. \| Taft, Ryan J. \| Chawla, Aditi \| Perry, Denise \| Henry, Duncan \| Slavotinek, Anne American Journal of Medical Genetics Part A, volume 176, issue 4, pages 997-1000 (2018). 10.1002/ajmg.a.38637 Cited by (10) \| Cite \| Source
Cobalamin D Deficiency Identified Through Newborn Screening (book chapter) In JIMD Reports, Volume 44 Abu-El-Haija, Aya \| Mendelsohn, Bryce A. \| Duncan, Jacque L. \| Moore, Anthony T. \| Glenn, Orit A. \| Weisiger, Kara \| Gallagher, Renata C. Springer Berlin Heidelberg (2018) 10.1007/8904_2018_126 Cited by (5) \| Cite \| Source
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects (journal article) Slavotinek, Anne \| Risolino, Maurizio \| Losa, Marta \| Cho, Megan T \| Monaghan, Kristin G \| Schneidman-Duhovny, Dina \| Parisotto, Sarah \| Herkert, Johanna C \| Stegmann, Alexander P A \| Miller, Kathryn \| ... \| Shieh, Joseph Human Molecular Genetics, volume 26, issue 24, pages 4849-4860 (2017). 10.1093/hmg/ddx363 Cited by (40) \| Cite \| Source
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae (journal article) Eppley, Sarah \| Hopkin, Robert J. \| Mendelsohn, Bryce \| Slavotinek, Anne M. American Journal of Medical Genetics Part A, volume 173, issue 11, pages 3075-3081 (2017). 10.1002/ajmg.a.38382 Cited by (15) \| Cite \| Source
Measuring ATP in Axons with FRET (book chapter) In Techniques to Investigate Mitochondrial Function in Neurons Shields, Lauren Y. \| Mendelsohn, Bryce A. \| Nakamura, Ken Springer New York (2017) 10.1007/978-1-4939-6890-9_6 Cited by (2) \| Cite \| Source
The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography (journal article) Scott, Anna I. \| Mendelsohn, Bryce A. \| Le, Anthony \| Cowan, Tina M. Clinica Chimica Acta, volume 456 (2016). 10.1016/j.cca.2016.03.003 Cited by (1) \| Cite \| Source
The Role of Mitochondrially Derived ATP in Synaptic Vesicle Recycling (journal article) Pathak, Divya \| Shields, Lauren Y. \| Mendelsohn, Bryce A. \| Haddad, Dominik \| Lin, Wei \| Gerencser, Akos A. \| Kim, Hwajin \| Brand, Martin D. \| Edwards, Robert H. \| Nakamura, Ken Journal of Biological Chemistry, volume 290, issue 37, pages 22325-22336 (2015). 10.1074/jbc.M115.656405 Cited by (202) \| Cite \| Source \| Open Access