MelissaA.WalkerMD

PubMed

• Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging.
  Jenny J Linnoila, Otto Rapalino, Melissa A Walker, Maria Martinez-Lage> ;The New England Journal of Medicine. 2024 Apr 18
• T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
  Shuqiang Li, Kenneth J Livak, Catherine J Wu, Melissa A Walker, Amel Karaa, Vamsi K Mootha> ;Journal of Inherited Metabolic Disease. 2024 Mar 18
• High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.
  Mueller, A., Sasaki, T., Keegan, J., Nguyen, J., Griffith, A., Horisberger, A., Licata, T., Fieg, E., Cao, Y., Elahee, M., Marks, K., Simmons, D., Briere, L., Cobban, ...> ;The Journal of Clinical Investigation. 2023 Dec 15
• Endocrine features of primary mitochondrial diseases.
  Lindsay Romo, Nina B Gold, Melissa A Walker> ;Current Opinion in Endocrinology, Diabetes, and Obesity. 2024 Feb 1
• The Effect of Disease on the Developing Nervous System: Challenges and Opportunities, a Foreward.
  Grace Gombolay, Melissa A Walker> ;Pediatric Neurology. 2024 Jan 1
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
  Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A High, Jiahai Shi,...> ;American Journal of Human Genetics. 2023 Aug 3
• 3 citations
  A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
  Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, , Shinya Yamamoto, David A Sweetser, Michael F Wa...> ;Genetics. 2023 Aug 9
• 10 citations
  Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
  Nina B Gold, Sophia M Adelson, Nidhi Shah, Shardae Williams, Sarah L Bick, Emilie S Zoltick, Jessica I Gold, Alanna Strong, Rebecca Ganetzky, Amy E Roberts, Melissa Wa...> ;JAMA Network Open. 2023 May 1
• 2 citations
  Amissense variant inassociated with developmental delay exhibits functional deficits in.
  Sharayu Jangam, Lauren C Briere, Kristy Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, , Shinya Yamamoto, David A Sweetser, Michael Wangler> ;Medrxiv. 2023 Feb 3
• 7 citations
  The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
  Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A High, Melissa A Walker, Lance H...> ;American Journal of Human Genetics. 2022 Oct 6
• A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
  Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Ma...> ;Journal of Inherited Metabolic Disease. 2022 Sep 1
• 6 citations
  On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.
  Melissa A. Walker, Maria Miranda, Amanda Allred, Vamsi K. Mootha> ;Current Opinion in Neurobiology. 2022 Feb 1
• Case 40-2021: A 9-Year-Old Boy with Transient Weakness, Facial Droop, and Slurred Speech.
  Miya E Bernson-Leung, Otto Rapalino, Melissa A Walker, William E Butler> ;The New England Journal of Medicine. 2021 Dec 30
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• 3 citations
  PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti...> ;Genetics in Medicine. 2021 Jun 10
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 1 citations
  Hereditary Myelopathies.
  Melissa A Walker> ;Seminars in Neurology. 2021 Jun 1
• 9 citations
  A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
  Lauren C. Briere, Melissa A. Walker, Frances A. High, Cynthia M. Cooper, Cassandra A Rogers, Christine J Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A. Caruso...> ;Cold Spring Harbor Molecular Case Studies. 2021 Apr 2
• 2 citations
  Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.
  Sam Nicholas Russo, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Melissa A. Walker> ;Child Neurology Open. 2021 Mar 2
• 72 citations
  Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
  Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, Owen S. Skinner, Erin Stackowitz, Ronald G. Haller, Clary B. Clish, Kerry A. Pierce, Melissa A. Walker, Robert Fryer...> ;The Journal of Clinical Investigation. 2021 Jan 19
• 575 citations
  MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.
  Sneha Rath, Rohit Sharma, Rahul Gupta, Tslil Ast, Connie Chan, Timothy J. Durham, Russell P. Goodman, Zenon Grabarek, Mary E. Haas, Wendy H. W. Hung, Pallavi R. Joshi,...> ;Nucleic Acids Research. 2021 Jan 8
• 11 citations
  Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported...
  Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C Mefford, Katie Golden-Grant, Kristina Tarczy-Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A...> ;Molecular Genetics & Genomic Medicine. 2021 Jan 1
• 45 citations
  Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.
  Melissa A. Walker, Caleb A. Lareau, Leif S. Ludwig, Amel Karaa, Vijay G. Sankaran, Aviv Regev, Vamsi K. Mootha> ;The New England Journal of Medicine. 2020 Aug 12
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Brain. 2020 Aug 1
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