BrettGrahamMDPhD, FACMG

PubMed

• Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.
  Makayla S Lancaster, Byungwook Kim, Emma H Doud, Mason D Tate, Ahmad D Sharify, Hongyu Gao, Duojiao Chen, Ed Simpson, Patrick Gillespie, Xiaona Chu, Marcus J Miller, Y...> ;Cell Reports. 2023 Oct 31
• 2 citations
  Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (...
  Kuntal Sen, Lindsay C Burrage, Kimberly A Chapman, Ilona Ginevic, George V Mazariegos, Brett H Graham> ;Genetics in Medicine. 2023 Feb 1
• 1 citations
  Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
  Brett H Graham, Lancaster, M.> ;International Journal of Molecular Sciences. 2023 Jun 27
• 1 citations
  Acute Hyperammonemia, Lactic Acidosis, and Ketoacidosis in a Developmentally Normal Child.
  Marcus J. Miller, Sharon M Luu, Brett H. Graham> ;Clinical Chemistry. 2021 Nov 1
• 1 citations
  Characterization of a novel deep-intronic variant inidentified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
  Muqsit Buchh, Patrick J Gillespie, Kayla Treat, Marco A Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R Suhrie,...> ;Cold Spring Harbor Molecular Case Studies. 2022 Dec 1
• 5 citations
  Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis.
  Sofia Milosavljevic, Kevin E Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R Seavitt, Brett H Graham, Sarah H Elsea> ;Metabolites. 2022 Apr 14
• 13 citations
  MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
  Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H. Graham, Scott E. Hickey, Stephanie M. Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette ...> ;Annals of Neurology. 2021 Jan 14
• 12 citations
  UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
  Chunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, Justine Rousseau, Ah Jung Heo, Katherine Neas, Brett H. Graham, Jill A. Rosenfeld, Carlos A. Bacino, Matias...> ;American Journal of Human Genetics. 2021 Jan 7
• 4 citations
  Association between pre-diagnostic leukocyte mitochondrial DNA copy number and survival among colorectal cancer patients.
  Keming Yang, Michele R. Forman, Brett H. Graham, Patrick O. Monahan, Edward Giovannucci, Immaculata De Vivo, Andrew T. Chan, Hongmei Nan> ;Cancer Epidemiology. 2020 Oct 1
• 2 citations
  Insulinemic Potential of Lifestyle Is Inversely Associated with Leukocyte Mitochondrial DNA Copy Number in US White Adults
  Keming Yang, Michele R. Forman, Patrick O. Monahan, Brett H. Graham, Andrew T. Chan, Xuehong Zhang, Immaculata De Vivo, Edward Giovannucci, Fred K. Tabung, Hongmei Nan> ;The Journal of Nutrition. 2020 Aug 1
• An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
  Jennifer L. Stinson, Jennifer A. Brault, Paula Delk, Brett H. Graham, Boaz Karmazyn, Bryan D. Hall, David D. Weaver> ;American Journal of Medical Genetics. Part A. 2020 Jul 1
• 26 citations
  Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in mal...
  Tim L. Emmerzaal, Graeme Preston, Bram Geenen, Vivienne Verweij, Maximilian Wiesmann, Elisavet Vasileiou, Femke Grüter, Corné de Groot, Jeroen Schoorl, Renske de Veer,...> ;Translational Psychiatry. 2020 Jun 1
• 288 citations
  Efficacy and safety of nerinetide for the treatment of acute ischaemic stroke (ESCAPE-NA1): a multicentre, double-blind, randomised controlled trial.
  Michael D. Hill, Mayank Goyal, Bijoy K Menon, Raul G. Nogueira, Ryan A McTaggart, Andrew M. Demchuk, Alexandre Y Poppe, Brian H Buck, Thalia S Field, Dar Dowlatshahi, ...> ;Lancet. 2020 Mar 14
• 1 citations
  An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
  Valerie J. Castelluccio, Francesco Vetrini, Ty C. Lynnes, Julie R. Jones, Lynda Holloway, Alyce Belonis, Amy M. Breman, Brett H. Graham, Katherine Sapp, Theodore E. Wi...> ;American Journal of Medical Genetics. Part A. 2019 Dec 1
• 9 citations
  Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry
  Chandler Griffin, Zineb Ammous, Gail H. Vance, Brett H. Graham, Marcus J. Miller> ;Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 2019 Oct 1
• 42 citations
  Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
  Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, Cristina Andreoli, Francesca Clementina Radio, Simone...> ;American Journal of Human Genetics. 2019 Sep 5
• 9 citations
  Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures
  Nishitha R. Pillai, Noura S. AlDhaheri, Rajarshi Ghosh, Jaehyung Lim, Haley Streff, Anuranjita Nayak, Brett H. Graham, Neil A. Hanchard, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2019 Jul 10
• 2 citations
  Correction: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments w...
  Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Jo...> ;Genome Medicine. 2019 Mar 25
• 50 citations
  Lysosomal Signaling Promotes Longevity by Adjusting Mitochondrial Activity.
  Prasanna V. Ramachandran, Marzia Savini, Andrew Folick, Kuang Hu, Ruchi Masand, Brett H. Graham, Meng C. Wang> ;Developmental Cell. 2019 Mar 11
• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similari...
  Vetrini, F.,McKee, S.,Rosenfeld, J. A.,Suri, M.,Lewis, A. M.,Nugent, K. M.,Roeder, E.,Littlejohn, R. O.,Holder, S.,Zhu, W.,Alaimo, J. T.,Graham, B.,Harris, J. M.,Gibso...> ;Genome Med. 2019 Mar 02
• 36 citations
  Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
  Lindsay C. Burrage, Lillian R. Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller, Sandesh C.S. Nagamani, William J. Craigen, Fernando Scaglia, V. Reid Sutto...> ;Genetics in Medicine. 2019 Jan 23
• 17 citations
  Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
  Bobby G. Ng, Jill A. Rosenfeld, Lisa Emrick, Mahim Jain, Lindsay C. Burrage, Brendan Lee, William J. Craigen, David Bearden, Brett H. Graham, Hudson H. Freeze> ;American Journal of Human Genetics. 2018 Dec 6
• 3 citations
  Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B 12 Metabolism: Case Reports and Literature Review
  Dolores Mullikin, Nishitha R. Pillai, Rossana Sanchez, Anne H. O'Donnell Luria, Amy Kritzer, Leyat Tal, Mohammed Almannai, Gerard T. Berry, Michael J. Gambello, Hong L...> ;The Journal of Pediatrics. 2018 Nov 1
• 48 citations
  Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
  Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavo...> ;Annals of Clinical and Translational Neurology. 2018 Sep 15
• 13 citations
  Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6
  Austin Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C. Burrage, Ronit Marom, Brett H. Graham, George A. Diaz, Emma Glamuzina, Natalie Hauser, Bryce Hees...> ;Mitochondrion. 2018 Jan 9
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