Karlla W. Brigatti

Clinic for Special Children — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

20h-index1.7kcitations56works0.82yr avg
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Research Topics

Mitochondrial Function and Pathology(9), Genetic Neurodegenerative Diseases(9), Genomics and Rare Diseases(9), Metabolism and Genetic Disorders(6), Neurogenetic and Muscular Disorders Research(6)

Publications56 total

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
Universität Zürich, ZORA·2026Open Access
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
The American Journal of Human Genetics·2026
Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease
Molecular Genetics and Metabolism·2026
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
Neurology·2025· 2 cited
Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency
Journal of Lipid Research·2025Open Access
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A·2025Open Access
Complement factor I deficiency–associated neuroinflammatory disease among Old Order Amish
Journal of Allergy and Clinical Immunology·2025Open Access
Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency
The Journal of Experimental Medicine·2025· 1 cited
Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG
Journal of Human Immunity·2025Open Access
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice
Proceedings of the National Academy of Sciences·2025· 1 citedOpen Access
<i>BCKDHA-BCKDHB</i> digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease
Science Translational Medicine·2025· 5 cited
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain
UNC Libraries·2024Open Access
Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy
Annals of Clinical and Translational Neurology·2024· 3 citedOpen Access
79 Pre-transplant decision-making among patients with cartilage-hair hypoplasia
Clinical Immunology·2024
191 CMV-specific adaptive immune response in U.S. Mennonite patients with hypomorphic RAG1 or RAG2 mutations presenting with clinical variability
Clinical Immunology·2024
<scp>WiTNNess</scp>: An international natural history study of infantile‐onset <scp>TNNT1</scp> myopathy
Annals of Clinical and Translational Neurology·2023Open Access
Characteristics and Clinical Implications of Anti-IFN-α cytokine antibodies in partial Recombinase Activating Gene Deficiency patients before and during the COVID-19 Pandemic
Clinical Immunology·2023Open Access
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Nature Communications·2022· 38 citedOpen Access
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B
BMC Cardiovascular Disorders·2022· 6 citedOpen Access
Disease burden and management of <scp>Crigler‐Najjar</scp> syndrome: Report of a world registry
Liver International·2022· 16 citedOpen Access
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Frequent Co-authors

Kevin A. Strauss(30), Erik G. Puffenberger(22), Millie Young(13), Claudia Gonzaga‐Jauregui(10), Vincent J. Carson(7), Katie B. Williams(7), David R. Lynch(7), Vincent J. Carson(7), Laura Poskitt(7), Lauren E. Bowser(6), Hermione Conti-Frith(6), Jennifer Farmer(6), John D. Overton(6), Robert N. Jinks(5), Michael D. Fox(5), Zineb Ammous(5), Christine Hendrickson(4), Alan R. Shuldiner(4), Keturah Beiler(3), Cora Taylor(3)