Publications by authors named "Daniel Helbling"

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Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.
Stephen F Kingsmore, Gretchen Bandoli, Daniel C Helbling, Rebecca Baer, Eric Blincow

medRxiv· November 2025

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Long-Read Genome Sequencing in Clinical Psychiatry: Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation.
Milad Mortazavi, Sergey Batalov, Jerica Lenberg, Corrine Blucher, Aisha Omorodion, Daniel Helbling

Am J Psychiatry· August 2025

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The influence of cancer on a forensic age estimation tool.
Charlotte Sutter, Daniel Helbling, Cordula Haas, Jacqueline Neubauer

Aging (Albany NY)· July 2025

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High Rates of Organ Preservation in Rectal Cancer with Papillon Contact X-ray Radiotherapy: Results from a Swiss Cohort.
Cristina Picardi, Francesca Caparrotti, Michael Montemurro, Daniel Christen, Nora-Brunner Schaub, Daniel Helbling

Cancers (Basel)· June 2024

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Is Computed-Tomography-Based Body Composition a Reliable Predictor of Chemotherapy-Related Toxicity in Pancreatic Cancer Patients?
Marco Cefalì, Isabel Scala, Giuliana Pavone, Daniel Helbling, Saskia Hussung

Cancers (Basel)· September 2023

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Combined Targeting of Pathogenetic Mechanisms in Pancreatic Neuroendocrine Tumors Elicits Synergistic Antitumor Effects.
Sebastian Gulde, Alessia Foscarini, Simon L April-Monn, Edoardo Genio, Alessandro Marangelo, Daniel Helbling

Cancers (Basel)· November 2022

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The Screening and COnsensus Based on Practices and Evidence (SCOPE) Program Results of a Survey on Daily Practice Patterns for Patients with Metastatic Colorectal Cancer-A Swiss Perspective in the Context of an International Viewpoint.
Alexander R Siebenhüner, Giorgia Lo Presti, Daniel Helbling, Petr Szturz, Christoforos Astaras

Curr Oncol· August 2022

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Advanced Gastric Cancer: Current Treatment Landscape and a Future Outlook for Sequential and Personalized Guide: Swiss Expert Statement Article.
Alexander R Siebenhüner, Sara De Dosso, Daniel Helbling, Christoforos Astaras, Petr Szturz

Oncol Res Treat· October 2021

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The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Mark A Vanden Avond, Hui Meng, Margaret J Beatka, Daniel C Helbling, Mariah J Prom

J Inherit Metab Dis· March 2021

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Mixed response and mechanisms of resistance to larotrectinib in metastatic carcinoma ex pleomorphic adenoma of the parotid harboring an NTRK2 fusion: A case report.
Magdalena Pircher, Hans Rudolf Briner, Marco Bonomo, Milo Horcic, Ulf Petrausch, Daniel Helbling

Medicine (Baltimore)· January 2021

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The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.
Shiran Rabinovich, Alon Silberman, Lital Adler, Shani Agron, Smadar Levin-Zaidman, Daniel Helbling

Oncogene· January 2020

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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Lina Liang, Xia Li, Sébastien Moutton, Samantha A Schrier Vergano, Benjamin Cogné, Daniel C Helbling

Hum Mol Genet· September 2019

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Metastatic Mixed Adenoneuroendocrine Carcinoma of the Colon with Response to Immunotherapy with Pembrolizumab: A Case Report.
Amelie Stueger, Thomas Winder, Marianne Tinguely, Ulf Petrausch, Daniel Helbling

J Immunother· September 2019

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Cetuximab monotherapy and cetuximab plus capecitabine as first-line treatment in older patients with RAS- and BRAF wild-type metastatic colorectal cancer. Results of the multicenter phase II trial SAKK 41/10.
Dirk L Kienle, Daniel Dietrich, Karin Ribi, Andreas Wicki, Luca Quagliata, Daniel Helbling

J Geriatr Oncol· March 2019

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Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.
Daniel C Helbling, David Mendoza, Julie McCarrier, Mark A Vanden Avond, Matthew M Harmelink

J Neuropathol Exp Neurol· March 2019

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Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Joo Sang Lee, Lital Adler, Hiren Karathia, Narin Carmel, Shiran Rabinovich, Daniel Helbling

Cell· September 2018

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Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities.
Emily M Siebers, Melinda J Choi, Jennifer A Tinklenberg, Margaret J Beatka, Samuel Ayres, Daniel C Helbling

J Neuropathol Exp Neurol· August 2018

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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N Cooper, Tyler Reimschisel, Daniel C Helbling

Am J Med Genet A· March 2018

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Cigarette smoking as a risk factor for the development of and mortality from hepatocellular carcinoma: An updated systematic review of 81 epidemiological studies.
Omar Abdel-Rahman, Daniel Helbling, Othmar Schöb, Mostafa Eltobgy, Hadeer Mohamed

J Evid Based Med· November 2017

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Impact of liver transplantation on the risk of second malignant tumors among hepatocellular carcinoma patients.
Hani Oweira, Jan Schmidt, Daniel Helbling, Ulf Petrausch, Othmar Schöb

Expert Rev Gastroenterol Hepatol· September 2017

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Early stage hepatocellular carcinoma in the elderly: A SEER database analysis.
Hani Oweira, Ulf Petrausch, Daniel Helbling, Jan Schmidt, Meinrad Mannhart

J Geriatr Oncol· July 2017

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Immune-related neurological toxicities among solid tumor patients treated with immune checkpoint inhibitors: a systematic review.
Mostafa Eltobgy, Hani Oweira, Ulf Petrausch, Daniel Helbling, Jan Schmidt

Expert Rev Neurother· July 2017

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X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Daniel Helbling

Pediatr Neurol· June 2017

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Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
David Bick, Pamela C Fraser, Michael F Gutzeit, Jeremy M Harris, Tina M Hambuch, Daniel C Helbling

J Pediatr Genet· June 2017

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Prognostic value of site-specific metastases in pancreatic adenocarcinoma: A Surveillance Epidemiology and End Results database analysis.
Hani Oweira, Ulf Petrausch, Daniel Helbling, Jan Schmidt, Meinrad Mannhart

World J Gastroenterol· March 2017

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