CalebPatrickBuppMD

PubMed

• Role of CAMK2D in neurodevelopment and associated conditions.
  Rigter, P., de Konink, C., Dunn, M., Proietti Onori, M., Humberson, J., Thomas, M., Barnes, C., Prada, C., Weaver, K., Ryan, T., Caluseriu, O., Conway, J., Calamaro, E...> ;American Journal of Human Genetics. 2024 Feb 1
• 1 citations
  Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.
  Henderson, M., Zieba, J., Li, X., Campbell, D., Williams, M., Vogt, D., Edgerly, Y., Hartog, N., Prokop, J., Krueger, J., Bupp, C., Rajasekaran, S.> ;Biotech. 2024 Jan 3
• 1 citations
  GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
  Allan Bayat, Tobias Lindau, Angel Aledo-Serrano, Antonio Gil-Nagel, Ivo Barić, Dorotea Bartoniček, Josipa Mateševac, Danijela Petković Ramadža, Tamara Žigman, Silvija ...> ;Clinical Genetics. 2023 Nov 1
• Bachmann-Bupp syndrome and treatment.
  André S Bachmann, Elizabeth A VanSickle, Julianne Michael, Marlie Vipond, Caleb P Bupp> ;Developmental Medicine and Child Neurology. 2024 Apr 1
• 1 citations
  Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
  Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Stephen J Sawiak, Phillip H Iffland 2nd, Malin H L Andersson, Caleb Bup...> ;Brain. 2023 Nov 2
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
  Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith,...> ;American Journal of Human Genetics. 2023 Jul 6
• 2 citations
  Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.
  Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E Schwartz, Surender Rajasekaran, André S Bachmann, Magalie Barth, Clément Pr...> ;Medical Sciences. 2023 Apr 4
• 4 citations
  TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
  Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Dorothy K Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M Mor...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 1 citations
  Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
  Taylor W Cook, Amy M Wilstermann, Jackson T Mitchell, Nicholas E Arnold, Surender Rajasekaran, Caleb P Bupp, Jeremy W Prokop> ;Biomolecules. 2023 Jan 30
• 2 citations
  Evolutionary Landscape ofGenes to Inform Genotype-to-Phenotype Relationships.
  Adam Underwood, Daniel T Rasicci, David Hinds, Jackson T Mitchell, Jacob K Zieba, Joshua Mills, Nicholas E Arnold, Taylor W Cook, Mehdi Moustaqil, Yann Gambin, Emma Si...> ;Genes. 2023 Jan 14
• 8 citations
  Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
  Caleb P Bupp, Elizabeth G Ames, Madison K Arenchild, Sara Caylor, David P Dimmock, Joseph D Fakhoury, Padmani Karna, April Lehman, Cristian I Meghea, Vinod Misra, Jess...> ;Children. 2023 Jan 4
• Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.
  Claudia V Aniol, Jeremy W Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K Elizer, Elizabeth A VanSickle, Caleb P Bupp> ;BMC Pediatrics. 2023 Jan 2
• 28 citations
  Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
  Hwang, S. T., Esplin, E. D., Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Michael Scott Perry, Anne T Berg, Felippe Borlot, ...> ;JAMA Neurology. 2022 Dec 1
• 2 citations
  Improvement of dermatological symptoms in patients with Bachmann-Bupp syndrome using difluoromethylornithine treatment.
  Tonia S Afshan, Elizabeth A VanSickle, Julianne Michael, Rachel L Laarman, Caleb P Bupp, Afrin, A.> ;Pediatric Dermatology. 2022 Nov 28
• Valve-Sparing Aortic Root Replacement in a Patient With anVariant.
  Adam J Lobbestael, Caleb P Bupp, Marcus P Haw> ;World Journal for Pediatric & Congenital Heart Surgery. 2022 Nov 1
• 1 citations
  Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
  Paul R Mark, Stephen A Murray, Tao Yang, Alexandra Eby, Angela Lai, Di Lu, Jacob Zieba, Surender Rajasekaran, Elizabeth A VanSickle, Linda Z Rossetti, Lucia Guidugli, ...> ;Cold Spring Harbor Molecular Case Studies. 2022 Oct 1
• 5 citations
  De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
  Konrad Platzer, Heinrich Sticht, Caleb Bupp, Mythily Ganapathi, Elaine M Pereira, Gwenaël Le Guyader, Frederic Bilan, Lindsay B Henderson, Johannes R Lemke, Holger Tas...> ;Annals of Neurology. 2022 Dec 1
• 1 citations
  Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog sign...
  Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J Gu...> ;Genetics in Medicine. 2022 Oct 1
• 5 citations
  Computational and Experimental Analysis of Genetic Variants.
  Jeremy W Prokop, Vladislav Jdanov, Lane Savage, Michele Morris, Neil Lamb, Elizabeth VanSickle, Cynthia L Stenger, Surender Rajasekaran, Caleb P Bupp> ;Comprehensive Physiology. 2022 Mar 29
• 4 citations
  Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.
  Linda S Franck, Andrea Scheurer-Monaghan, Caleb P Bupp, Joseph D Fakhoury, Thomas J Hoffmann, Manasi Deshpandey, Madison Arenchild, David P Dimmock> ;Children. 2022 Mar 4
• 2 citations
  The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing.
  Akansha S Das, Emily C Sherry, Robert M Vaughan, Marian L Henderson, Jacob Zieba, Katie L Uhl, Olivia Koehn, Caleb P Bupp, Surender Rajasekaran, Xiaopeng Li, Surya B C...> ;Frontiers in Cell and Developmental Biology. 2022 Jan 1
• 2 citations
  N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants
  Jacob G Charron, Angel Hernandez, Stephanie M. Bilinovich, Daniel Vogt, Laura A Bedinger, Laurie H. Seaver, Michael Williams, Seth Devries, Daniel B. Campbell, Caleb B...> ;American Journal of Medical Genetics. Part A. 2021 Nov 2
• 5 citations
  Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
  Bertrand Isidor, Frédéric Ebstein, Anna C.E. Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy, Benjamin Cogné, Johannes A. Mayr, Anja Brehm, Caleb Bupp, Kathryn War...> ;Genetics in Medicine. 2021 Nov 1
• 6 citations
  Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
  Cai Qi, Irena Feng, Ana Costa, Rita Pinto-Costa, Jennifer E. Neil, Oana Caluseriu, Dong Li, Rebecca D. Ganetzky, Charlotte Brasch-Andersen, Christina Fagerberg, Lars K...> ;Genetics in Medicine. 2021 Nov 1
• 7 citations
  Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome
  Elizabeth VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran, Jeremy W. Prokop, Ruben Kuzniecky, Floris C. Hofstede, Katharina Steindl, Anita Rauch, ...> ;American Journal of Medical Genetics. Part A. 2021 Sep 3
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