Daniel Helbling

ScholarGPS® ID: 74018124397844

Affiliation

Medical College of Wisconsin, Milwaukee, United States

Affiliation History

Field

Medicine

Discipline

Pathology

Top Specialties

Mutation | Nutrition | Pediatric Gastroenterology

Metrics Summary

Publication Count

Predicted Citations

2,128

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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The nucleotide prodrug CERC ‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats (journal article) Vanden Avond, Mark A. \| Meng, Hui \| Beatka, Margaret J. \| Helbling, Daniel C. \| Prom, Mariah J. \| Sutton, Jessica L. \| Slick, Rebecca A. \| Dimmock, David P. \| Pertusati, Fabrizio \| Serpi, Michaela \| ... \| Lawlor, Michael W. Journal of Inherited Metabolic Disease, volume 44, issue 2, pages 492-501 (2021). 10.1002/jimd.12354 Cited by (7) \| Cite \| Source
The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis (journal article) Rabinovich, Shiran \| Silberman, Alon \| Adler, Lital \| Agron, Shani \| Levin-Zaidman, Smadar \| Bahat, Amir \| Porat, Ziv \| Ben-Zeev, Efrat \| Geva, Inbal \| Itkin, Maxim \| ... \| Erez, Ayelet Oncogene, volume 39, issue 1, pages 164-175 (2020). 10.1038/s41388-019-0976-2 Cited by (19) \| Cite \| Source
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes (journal article) Liang, Lina \| Li, Xia \| Moutton, Sébastien \| Schrier Vergano, Samantha A \| Cogné, Benjamin \| Saint-Martin, Anne \| Hurst, Anna C E \| Hu, Yushuang \| Bodamer, Olaf \| Thevenon, Julien \| ... \| Wang, Qing Kenneth Human Molecular Genetics, volume 28, issue 17, pages 2937-2951 (2019). 10.1093/hmg/ddz117 Cited by (68) \| Cite \| Source
Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities (journal article) Siebers, Emily M \| Choi, Melinda J \| Tinklenberg, Jennifer A \| Beatka, Margaret J \| Ayres, Samuel \| Meng, Hui \| Helbling, Daniel C \| Takizawa, Akiko \| Bennett, Brian \| Garces, Alexander M \| ... \| Lawlor, Michael W Journal of Neuropathology & Experimental Neurology, volume 77, issue 8, pages 665-672 (2018). 10.1093/jnen/nly042 Cited by (7) \| Cite \| Source
Evaluation of Patient‐Specific MTERF4 Variants in Gene‐Edited Human iPSC‐derived Cardiomyocytes (journal article) Marquez, Maribel \| McDermott‐Roe, Chris \| Grzybowski, Mike \| Helbling, Daniel \| Dimmock, David P. \| Verbsky, James W. \| Geurts, Aron The FASEB Journal, volume 32, issue S1 (2018). 10.1096/fasebj.2018.32.1_supplement.848.15 Cite \| Source
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant (journal article) Pomerantz, Daniel J. \| Ferdinandusse, Sacha \| Cogan, Joy \| Cooper, David N. \| Reimschisel, Tyler \| Robertson, Amy \| Bican, Anna \| McGregor, Tracy \| Gauthier, Jackie \| Millington, David S. \| ... \| Phillips, John A. American Journal of Medical Genetics Part A, volume 176, issue 3, pages 692-698 (2018). 10.1002/ajmg.a.38602 Cited by (20) \| Cite \| Source
X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid (journal article) Scalais, Emmanuel \| Osterheld, Elise \| Weitzel, Christiane \| De Meirleir, Linda \| Mataigne, Frederic \| Martens, Geert \| Shaikh, Tamim H. \| Coughlin, Curtis R. \| Yu, Hung-Chun \| Swanson, Michael \| ... \| Van Hove, Johan L.K. Pediatric Neurology, volume 71 (2017). 10.1016/j.pediatrneurol.2016.12.003 Cited by (7) \| Cite \| Source
Evaluation of Patient‐Specific MTERF4 Variants in Gene‐Edited Human iPSC‐derived Cardiomyocytes (journal article) Marquez, Maribel \| McDermott‐Roe, Chris \| Grysbowski, Michael \| Helbling, Daniel \| Dimmock, David P. \| Verbsky, James W. \| Geurts, Aron M The FASEB Journal, volume 31, issue S1 (2017). 10.1096/fasebj.31.1_supplement.lb814 Cite \| Source
Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection (journal article) Mitzelfelt, Katie A. \| McDermott-Roe, Chris \| Grzybowski, Michael N. \| Marquez, Maribel \| Kuo, Chieh-Ti \| Riedel, Michael \| Lai, Shuping \| Choi, Melinda J. \| Kolander, Kurt D. \| Helbling, Daniel \| ... \| Geurts, Aron M. Stem Cell Reports, volume 8, issue 3, pages 491-499 (2017). 10.1016/j.stemcr.2017.01.021 Cited by (27) \| Cite \| Source \| Open Access
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic (journal article) Bick, David \| Fraser, Pamela \| Gutzeit, Michael \| Harris, Jeremy \| Hambuch, Tina \| Helbling, Daniel \| Jacob, Howard \| Kersten, Juliet \| Leuthner, Steven \| May, Thomas \| ... \| Dimmock, David Journal of Pediatric Genetics, volume 06, issue 02, pages 061-076 (2016). 10.1055/s-0036-1593968 Cited by (33) \| Cite \| Source
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome (journal article) Bennett, Brian \| Helbling, Daniel \| Meng, Hui \| Jarzembowski, Jason \| Geurts, Aron M. \| Friederich, Marisa W. \| Van Hove, Johan L.K. \| Lawlor, Michael W. \| Dimmock, David P. Free Radical Biology and Medicine, volume 92 (2016). 10.1016/j.freeradbiomed.2016.01.001 Cited by (13) \| Cite \| Source \| Open Access
Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants (journal article) Sampath, Venkatesh \| Helbling, Daniel \| Menden, Heather \| Dimmock, David \| Mulrooney, Neil P. \| Murray, Jeffrey C. \| Dagle, John M. \| Garland, Jeffery S. Journal of Pediatric Gastroenterology and Nutrition, volume 62, issue 3, pages 420-423 (2016). 10.1097/MPG.0000000000000988 Cited by (3) \| Cite \| Source \| Open Access
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis (journal article) Rabinovich, Shiran \| Adler, Lital \| Yizhak, Keren \| Sarver, Alona \| Silberman, Alon \| Agron, Shani \| Stettner, Noa \| Sun, Qin \| Brandis, Alexander \| Helbling, Daniel \| ... \| Erez, Ayelet Nature, volume 527, issue 7578, pages 379-383 (2015). 10.1038/nature15529 Cited by (256) \| Cite \| Source \| Open Access
SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis (journal article) Sampath, V. \| Menden, H. \| Helbling, D. \| Li, K. \| Gastonguay, A. \| Ramchandran, R. \| Dimmock, D. P. PEDIATRICS, volume 135, issue 6, pages e1530-e1534 (2015). 10.1542/peds.2014-3386 Cited by (71) \| Cite \| Source \| Open Access
Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants (journal article) Sampath, Venkatesh \| Garland, Jeffery S. \| Helbling, Daniel \| Dimmock, David \| Mulrooney, Neil P. \| Simpson, Pippa M. \| Murray, Jeffrey C. \| Dagle, John M. Pediatric Research, volume 77, issue 3, pages 477-483 (2015). 10.1038/pr.2014.200 Cited by (46) \| Cite \| Source \| Open Access
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia (journal article) Geddes, G C \| Dimmock, D P \| Hehir, D A \| Helbling, D C \| Kirkpatrick, E \| Loomba, R \| Southern, J \| Waknitz, M \| Scharer, G \| Konduri, G G Journal of Perinatology, volume 35, issue 2, pages 155-157 (2015). 10.1038/jp.2014.187 Cited by (5) \| Cite \| Source
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome (journal article) Mele, Caterina \| Lemaire, Mathieu \| Iatropoulos, Paraskevas \| Piras, Rossella \| Bresin, Elena \| Bettoni, Serena \| Bick, David \| Helbling, Daniel \| Veith, Regan \| Valoti, Elisabetta \| ... \| Noris, Marina Clinical Journal of the American Society of Nephrology, volume 10, issue 6, pages 1011-1019 (2015). 10.2215/CJN.08520814 Cited by (46) \| Cite \| Source \| Open Access
Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure (journal article) Helbling, Daniel \| Buchaklian, Adam \| Wang, Jing \| Wong, Lee‐Jun \| Dimmock, David Journal of Pediatric Gastroenterology and Nutrition, volume 57, issue 4, pages 438-443 (2013). 10.1097/MPG.0b013e31829ef4b4 Cited by (20) \| Cite \| Source \| Open Access
Genomics in Clinical Practice: Lessons from the Front Lines (journal article) Jacob, Howard J. \| Abrams, Kelly \| Bick, David P. \| Brodie, Kent \| Dimmock, David P. \| Farrell, Michael \| Geurts, Jennifer \| Harris, Jeremy \| Helbling, Daniel \| Joers, Barbara J. \| ... \| Worthey, Elizabeth A. Science Translational Medicine, volume 5, issue 194 (2013). 10.1126/scitranslmed.3006468 Cited by (75) \| Cite \| Source \| Open Access
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy (journal article) Buchaklian, Adam H. \| Helbling, Daniel \| Ware, Stephanie M. \| Dimmock, David P. Molecular Genetics and Metabolism, volume 107, issue 1-2, pages 92-94 (2012). 10.1016/j.ymgme.2012.04.019 Cited by (25) \| Cite \| Source