Ali Fatemi

Research output

Research output per year 2003 2015 2017 2018 2019 2020 2021 2022 2023 2024

• 87 Article
• 18 Review article
• 6 Comment/debate
• 1 Chapter
• 3 More
  • 1 Conference contribution
  • 1 Editorial
  • 1 Letter

Research output per year

Research output per year

Search results

• 2023

  Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

  Calame, D. G., Moreno Vadillo, C., Berger, S., Lotze, T., Shinawi, M., Poupak, J., Heller, C., Cohen, J., Person, R., Telegrafi, A., Phitsanuwong, C., Fiala, K., Thiffault, I., Del Viso, F., Zhou, D., Fleming, E. A., Pastinen, T., Fatemi, A., Thomas, S., Pascual, S. I., & 9 othersTorres, R. J., Prior, C., Gómez-González, C., Biskup, S., Lupski, J. R., Maric, D., Holmgren, M., Regier, D. & Yano, S. T., Aug 1 2023, In: Brain. 146, 8, p. 3162-3171 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • CAPOS syndrome 100%
  • Population Biological Variation 59%
  • Ion Transport 57%
  • Cations 48%
  • Intellectual Disability 45%

• Clinical and functional consequences of GRIA variants in patients with neurological diseases

  XiangWei, W., Perszyk, R. E., Liu, N., Xu, Y., Bhattacharya, S., Shaulsky, G. H., Smith-Hicks, C., Fatemi, A., Fry, A. E., Chandler, K., Wang, T., Vogt, J., Cohen, J. S., Paciorkowski, A. R., Poduri, A., Zhang, Y., Wang, S., Wang, Y., Zhai, Q., Fang, F., & 10 othersLeng, J., Garber, K., Myers, S. J., Jauss, R. T., Park, K. L., Benke, T. A., Lemke, J. R., Yuan, H., Jiang, Y. & Traynelis, S. F., Nov 2023, In: Cellular and Molecular Life Sciences. 80, 11, 345.

  Research output: Contribution to journal › Article › peer-review

  • Psychologic Desensitization 100%
  • AMPA Receptors 90%
  • Glutamate Receptors 84%
  • Genetic Variation 74%
  • Reaction Time 72%

• Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

  Schoenmakers, D. H., Leferink, P. S., Vanderver, A., Bonkowsky, J. L., Krägeloh-Mann, I., Bernard, G., Bertini, E., Fatemi, A., Fogel, B. L., Wolf, N. I., Skwirut, D., Buck, A., Holberg, B., Saunier-Vivar, E. F., Rauner, R., Dekker, H., van Bokhoven, P., Stellingwerff, M. D., Berkhof, J. & van der Knaap, M. S., Dec 2023, In: BMC neurology. 23, 1, 305.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Leukoencephalopathies 100%
  • Phase III Clinical Trials 90%
  • Consensus 71%
  • White Matter 68%
  • Clinical Trials 24%

• Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing

  Guang, S., O’Brien, B. M., Fine, A. S., Ying, M., Fatemi, A. & Nemeth, C. L., Dec 2023, In: Scientific reports. 13, 1, 13042.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Organoids 100%
  • Exons 52%
  • Messenger RNA 43%
  • Induced Pluripotent Stem Cells 43%
  • Mutation 42%

• Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

  ADVANCE Study Group, Feb 2023, In: The Lancet Neurology. 22, 2, p. 127-136 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Disease Progression 54%
  • Placebos 47%
  • Safety 40%
  • Biomarkers 7%

• Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

  Planas-Serra, L., Launay, N., Goicoechea, L., Heron, B., Jou, C., Juliá-Palacios, N., Ruiz, M., Fourcade, S., Casasnovas, C., De La Torre, C., Gelot, A., Marsal, M., Loza-Alvarez, P., García-Cazorla, À., Fatemi, A., Ferrer, I., Portero-Otin, M., Area-Gómez, E. & Pujol, A., May 15 2023, In: Journal of Clinical Investigation. 133, 10, e162957.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • sphingolipid desaturase 100%
  • Sphingolipids 55%
  • Mitochondria 37%
  • dihydroceramide desaturase 36%
  • Membranes 26%

• Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

  Nemeth, C. L., Gӧk, Ö., Tomlinson, S. N., Sharma, A., Moser, A. B., Kannan, S., Kannan, R. M. & Fatemi, A., Jan 2023, In: Neurotherapeutics. 20, 1, p. 272-283 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • 4-phenylbutyric acid 100%
  • Adrenoleukodystrophy 93%
  • Dendrimers 87%
  • Brain 31%
  • Fatty Acids 15%
• 2022

  Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

  The SPARK Consortium, Sep 2022, In: Nature genetics. 54, 9, p. 1305-1319 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Autistic Disorder 100%
  • Mutation 56%
  • Genes 40%
  • Exome 20%
  • Psychological Power 15%

• International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy: A Consensus-Based Approach

  Engelen, M., Van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., Van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., Tritos, N. A., Halper, A., Lachmann, R. H., Davison, J., Raymond, G. V., Lund, T. C., Orchard, P. J., Kuehl, J. S., Lindemans, C. A., Caruso, P., & 8 othersTurk, B. R., Moser, A. B., Vaz, F. M., Ferdinandusse, S., Kemp, S., Fatemi, A., Eichler, F. S. & Huffnagel, I. C., Nov 22 2022, In: Neurology. 99, 21, p. 940-951 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 20%
  • Addison Disease 11%
  • Adrenal Insufficiency 10%
  • Penetrance 9%

• MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

  Turk, B. R., Poisson, L. M., Nemeth, C. L., Goodman, J., Moser, A. B., Jones, R. O., Fatemi, A. & Singh, J., Nov 2022, In: JIMD Reports. 63, 6, p. 593-603 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • MicroRNA 84%
  • Metabolomics 75%
  • Biological Marker 61%
  • MicroRNAs 57%

• Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment

  Mallack, E. J., Van Haren, K. P., Torrey, A., Van De Stadt, S., Engelen, M., Raymond, G. V., Fatemi, A. & Eichler, F. S., Aug 2 2022, In: Neurology. 99, 5, p. E512-E520

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Kaplan-Meier Estimate 19%
  • Therapeutics 11%
  • Benchmarking 10%
  • Natural History 9%

• Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression

  Keller, J. L., Eloyan, A., Raymond, G. V., Fatemi, A. & Zackowski, K. M., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 308-317 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Walking 60%
  • Disease Progression 54%
  • Hip 28%
  • Cohort Studies 23%

• Wearable sensors detect impaired gait and coordination in LBSL during remote assessments

  Smith Fine, A., Kaufman, M., Goodman, J., Turk, B., Bastian, A., Lin, D., Fatemi, A. & Keller, J., Apr 2022, In: Annals of Clinical and Translational Neurology. 9, 4, p. 468-477 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ataxia 100%
  • Gait 90%
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 41%
  • Eye 35%
  • Aspartate-tRNA Ligase 34%
• 2021

  Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial

  Amanat, M., Majmaa, A., Zarrabi, M., Nouri, M., Akbari, M. G., Moaiedi, A. R., Ghaemi, O., Zamani, F., Najafi, S., Badv, R. S., Vosough, M., Hamidieh, A. A., Salehi, M., Montazerlotfelahi, H., Tavasoli, A. R., Heidari, M., Mohebi, H., Fatemi, A., Garakani, A. & Ashrafi, M. R., Dec 2021, In: Stem Cell Research and Therapy. 12, 1, 439.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Intrathecal 100%
  • Spinal Injections 74%
  • Cord 71%
  • Umbilical Cord 65%
  • Controlled Clinical Trials 63%

• Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids

  Moser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A., Braverman, N. E., Steinberg, S. J. & Watkins, P. A., Oct 2021, In: Journal of cellular biochemistry. 122, 10, p. 1337-1349 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Irbesartan 99%
  • Adrenoleukodystrophy 90%
  • Drug Discovery 64%
  • Choline 53%
  • Fatty Acids 53%

• Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

  Kojic, M., Gawda, T., Gaik, M., Begg, A., Salerno-Kochan, A., Kurniawan, N. D., Jones, A., Drożdżyk, K., Kościelniak, A., Chramiec-Głąbik, A., Hediyeh-Zadeh, S., Kasherman, M., Shim, W. J., Sinniah, E., Genovesi, L. A., Abrahamsen, R. K., Fenger, C. D., Madsen, C. G., Cohen, J. S., Fatemi, A., & 20 othersStark, Z., Lunke, S., Lee, J., Hansen, J. K., Boxill, M. F., Keren, B., Marey, I., Saenz, M. S., Brown, K., Alexander, S. A., Mureev, S., Batzilla, A., Davis, M. J., Piper, M., Bodén, M., Burne, T. H. J., Palpant, N. J., Møller, R. S., Glatt, S. & Wainwright, B. J., Dec 1 2021, In: Nature communications. 12, 1, 2678.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • phenotype 100%
  • mutations 82%
  • disabilities 80%
  • Autism Spectrum Disorder 73%
  • Intellectual Disability 66%

• Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

  Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S., & 83 othersBassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hairy elbows 100%
  • Intellectual Disability 90%
  • Hypertrichosis 70%
  • Indigenous Peoples 66%
  • Failure to Thrive 60%

• MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

  Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., Van Haren, K., Ruzhnikov, M., Kurtzberg, J., Maegawa, G., Orchard, P. J., Lund, T. C., Raymond, G. V., Regelmann, M., Orsini, J. J., Seeger, E., & 3 othersKemp, S., Eichler, F. & Fatemi, A., May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 728-739 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%
  • Meta-Analysis 51%
  • Guidelines 44%
  • Neuroimaging 20%

• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

  Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., Gates, R., & 25 othersGomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genitopatellar Syndrome 100%
  • Young Simpson syndrome 99%
  • Lysine Acetyltransferases 81%
  • Photophobia 60%
  • Keratoconus 60%

• Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

  CAUSES Study & SPARK Consortium, Dec 1 2021, In: Genome Medicine. 13, 1, 63.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Mutation 47%
  • Genes 34%
  • Heterogeneous-Nuclear Ribonucleoproteins 24%
  • Phenotype 10%
• 2020

  Beliefs in vaccine as causes of autism among SPARK cohort caregivers

  The SPARK Consortium, Feb 11 2020, In: Vaccine. 38, 7, p. 1794-1803 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • caregivers 100%
  • autism 91%
  • Autistic Disorder 58%
  • Autism Spectrum Disorder 52%
  • vaccines 50%
  5 Scopus citations

• De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

  Undiagnosed Diseases Network, Aug 6 2020, In: American journal of human genetics. 107, 2, p. 352-363 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Adenosine Triphosphatases 85%
  • Leigh Disease 63%
  • Charcot-Marie-Tooth Disease 57%
  • Spinal Muscular Atrophy 55%
  7 Scopus citations

• Expansion of the genetic landscape of ERLIN2-related disorders

  Srivastava, S., D’Amore, A., Cohen, J. S., Swanson, L. C., Ricca, I., Pini, A., Fatemi, A., Ebrahimi-Fakhari, D. & Santorelli, F. M., Apr 1 2020, In: Annals of Clinical and Translational Neurology. 7, 4, p. 573-578 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosomes, Human, Pair 8 100%
  • Sensorineural Hearing Loss 83%
  • Mothers 47%
  • Child 32%

• Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome

  Sripathy, S. R., Wang, Y., Moses, R. L., Fatemi, A., Batista, D. & Maher, B., Oct 2020, In: Stem Cell Research. 48, 102001.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pitt-Hopkins syndrome 100%
  • Transcription Factor 4 78%
  • Induced Pluripotent Stem Cells 58%
  • Pluripotent Stem Cells 20%
  • Mutation 19%

• Glial restricted precursor delivery of dendrimer: N -acetylcysteine promotes migration and differentiation following transplant in mouse white matter injury model

  Nemeth, C. L., Tomlinson, S. N., Sharma, R., Sharma, A., Kannan, S., Kannan, R. M. & Fatemi, A., Aug 14 2020, In: Nanoscale. 12, 30, p. 16063-16068 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Acetylcysteine 100%
  • Dendrimers 80%
  • Neuroglia 76%
  • Transplants 64%
  • Dendrimer 44%
  1 Scopus citations

• Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

  The SPARK Consortium, Dec 1 2020, In: Nature communications. 11, 1, 4932.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • sequencing 100%
  • Neurodevelopmental Disorders 86%
  • genes 85%
  • Disorder 62%
  • Mutation 62%
  10 Scopus citations

• Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

  Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 56 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Oct 1 2020, In: Nature genetics. 52, 10, p. 1046-1056 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cerebral Palsy 100%
  • Mutation 53%
  • Genes 38%
  • Cyclin D 26%
  • Reverse Genetics 25%

• Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption

  Nemeth, C. L., Tomlinson, S. N., Rosen, M., O'Brien, B. M., Larraza, O., Jain, M., Murray, C. F., Marx, J. S., Delannoy, M., Fine, A. S., Wu, D., Trifunovic, A. & Fatemi, A., Apr 2020, In: Experimental Neurology. 326, 113164.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 100%
  • Aspartate-tRNA Ligase 83%
  • Activation Analysis 64%
  • Leukoencephalopathies 60%
  • Phenotype 54%

• Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

  The SPARK Consortium, Oct 1 2020, In: Journal of Autism and Developmental Disorders. 50, 10, p. 3679-3698 20 p.

  Research output: Contribution to journal › Article › peer-review

  • Mental Disorders 100%
  • Language 97%
  • Psychiatry 91%
  • Language Disorders 85%
  • morbidity 83%
  5 Scopus citations

• Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

  Helman, G., Takanohashi, A., Hagemann, T. L., Perng, M. D., Walkiewicz, M., Woidill, S., Sase, S., Cross, Z., Du, Y., Zhao, L., Waldman, A., Haake, B. C., Fatemi, A., Brenner, M., Sherbini, O., Messing, A., Vanderver, A. & Simons, C., Jun 1 2020, In: Human mutation. 41, 6, p. 1131-1137 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Alexander Disease 100%
  • Glial Fibrillary Acidic Protein 66%
  • Up-Regulation 14%
  • RNA Splicing 13%
  • Gain of Function Mutation 13%

• X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

  Turk, B. R., Theda, C., Fatemi, A. & Moser, A. B., Feb 1 2020, In: International Journal of Developmental Neuroscience. 80, 1, p. 52-72 21 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%
  • Pathology 43%
  • Fatty Acids 29%
  • Hope 19%
  7 Scopus citations
• 2019

  Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

  Casasnovas, C., Ruiz, M., Schlüter, A., Naudí, A., Fourcade, S., Veciana, M., Castañer, S., Albertí, A., Bargalló, N., Johnson, M., Raymond, G. V., Fatemi, A., Moser, A. B., Villarroya, F., Portero-Otín, M., Artuch, R., Pamplona, R. & Pujol, A., Oct 1 2019, In: Neurotherapeutics. 16, 4, p. 1167-1182 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Antioxidants 50%
  • Biomarkers 44%
  • Safety 40%
  • Walk Test 27%
  12 Scopus citations

• De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

  Undiagnosed Diseases Network, Aug 1 2019, In: American journal of human genetics. 105, 2, p. 413-424 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cerebellar Hypoplasia 100%
  • Coloboma 93%
  • Intellectual Disability 61%
  • WD40 Repeats 58%
  • Diptera 56%

• Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

  The SPARK Consortium, Dec 1 2019, In: npj Genomic Medicine. 4, 1, 19.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome 100%
  • Autism Spectrum Disorder 86%
  • Autistic Disorder 83%
  • Genes 33%
  • Genetic Research 10%
  36 Scopus citations

• Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

  Page, K. M., Stenger, E. O., Connelly, J. A., Shyr, D., West, T., Wood, S., Case, L., Kester, M., Shim, S., Hammond, L., Hammond, M., Webb, C., Biffi, A., Bambach, B., Fatemi, A. & Kurtzberg, J., Dec 2019, In: Biology of Blood and Marrow Transplantation. 25, 12, p. e363-e374

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Globoid Cell Leukodystrophy 100%
  • Hematopoietic Stem Cell Transplantation 69%
  • Practice Guidelines 60%
  • Eligibility Determination 39%
  • Patient Care 33%

• In vivo high-resolution diffusion tensor imaging of the developing neonatal rat cortex and its relationship to glial and dendritic maturation

  Breu, M., Reisinger, D., Tao, L., Wu, D., Zhang, Y., Budde, M. D., Fatemi, A., Pathak, A. P. & Zhang, J., Jun 1 2019, In: Brain Structure and Function. 224, 5, p. 1815-1829 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Anisotropy 100%
  • Diffusion Tensor Imaging 99%
  • Neuroglia 77%
  • Brain 18%
  • Visual Cortex 13%
  3 Scopus citations

• Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

  Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M., & 24 othersCornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N. L. D. M., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 2019, In: Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • sphingolipid desaturase 100%
  • dihydroceramide 76%
  • Fingolimod Hydrochloride 62%
  • Ceramides 40%
  • Myelin Sheath 23%
  20 Scopus citations
• 2018

  Cognitive impairments induced by necrotizing enterocolitis can be prevented by inhibiting microglial activation in mouse brain

  Niño, D. F., Zhou, Q., Yamaguchi, Y., Martin, L. Y., Wang, S., Fulton, W. B., Jia, H., Lu, P., Jr, T. P., Zhang, F., Crawford, J., Hou, Z., Mori, S., Chen, L. L., Guajardo, A., Fatemi, A., Pletnikov, M., Kannan, R. M., Kannan, S., Sodhi, C. P., & 1 othersHackam, D. J., Dec 12 2018, In: Science translational medicine. 10, 471, eaan0237.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Necrotizing Enterocolitis 100%
  • Cognitive Dysfunction 66%
  • Brain 39%
  • Toll-Like Receptor 4 31%
  • Intestines 24%
  40 Scopus citations

• Dendrimer–N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy

  Turk, B. R., Nemeth, C. L., Marx, J. S., Tiffany, C., Jones, R., Theisen, B., Kambhampati, S., Ramireddy, R., Singh, S., Rosen, M., Kaufman, M. L., Murray, C. F., Watkins, P. A., Kannan, S., Kannan, R. & Fatemi, A., Sep 2018, In: Annals of neurology. 84, 3, p. 452-462 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Dendrimers 78%
  • Cysteine 64%
  • Acyl Coenzyme A 30%
  • Glutamic Acid 30%
  10 Scopus citations

• De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

  Wojcik, M. H., Okada, K., Prabhu, S. P., Nowakowski, D. W., Ramsey, K., Balak, C., Rangasamy, S., Brownstein, C. A., Schmitz-Abe, K., Cohen, J. S., Fatemi, A., Shi, J., Grant, E. P., Narayanan, V., Ho, H. Y. H. & Agrawal, P. B., Dec 2018, In: American Journal of Medical Genetics, Part A. 176, 12, p. 2623-2629 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Pontocerebellar Hypoplasia Type 1 100%
  • Pontocerebellar Hypoplasia 86%
  • Arthrogryposis 70%
  • Anterior Horn Cells 34%
  • Kinesin 30%

• Early detection of hypothermic neuroprotection using T2-weighted magnetic resonance imaging in a mouse model of hypoxic ischemic encephalopathy

  Doman, S. E., Girish, A., Nemeth, C. L., Drummond, G. T., Carr, P., Garcia, M. S., Johnston, M. V., Kannan, S., Fatemi, A., Zhang, J. & Wilson, M. A., May 8 2018, In: Frontiers in Neurology. 9, MAY, 304.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Brain Hypoxia-Ischemia 100%
  • Neuroprotection 81%
  • Ischemia 58%
  • Magnetic Resonance Imaging 51%
  • Hypothermia 48%
  5 Scopus citations

• Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

  Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro-Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S., & 9 othersHersh, J. H., Burton, J., Wentzensen, I. M., Guillen Sacoto, M. J., Willaert, R., Cho, M. T., Petrik, I., Huether, R. & Tang, S., Apr 2018, In: Clinical Genetics. 93, 4, p. 752-761 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • PR-SET Domains 100%
  • Penetrance 75%
  • Phenotype 39%
  • Exome 39%
  • Intellectual Disability 30%

• FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants

  Mitter, D., Pringsheim, M., Kaulisch, M., Plümacher, K. S., Schröder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Büttel, H. M., Cohen, J. S., Conover, E., Courage, C., Eger, A., Fatemi, A., Grebe, T. A., Hauser, N. S., Heinritz, W., Helbig, K. L., Heruth, M., & 21 othersHuhle, D., Höft, K., Karch, S., Kluger, G., Korenke, G. C., Lemke, J. R., Lutz, R. E., Patzer, S., Prehl, I., Hoertnagel, K., Ramsey, K., Rating, T., Rieß, A., Rohena, L., Schimmel, M., Westman, R., Zech, F. M., Zoll, B., Malzahn, D., Zirn, B. & Brockmann, K., Jan 1 2018, In: Genetics in Medicine. 20, 1, p. 98-108 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Association Studies 100%
  • Population Biological Variation 28%
  • Phenotype 28%
  • Genetic Counseling 25%
  • Protein Domains 23%

• Monogenic disorders that mimic the phenotype of Rett syndrome

  Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B., Jan 1 2018, In: Neurogenetics. 19, 1, p. 41-47 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Rett Syndrome 100%
  • Methyl-CpG-Binding Protein 2 69%
  • Phenotype 44%
  • Whole Exome Sequencing 32%
  • Atypical Rett Syndrome 17%
  23 Scopus citations

• Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

  Zarate, Y. A., Smith-Hicks, C. L., Greene, C., Abbott, M. A., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., Bosanko, K., Kalsner, L., Basinger, A., Slavotinek, A. M., Perry, H., Saenz, M., Szybowska, M., Wilson, L. C., Kumar, A., Brain, C., & 38 othersBalasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X. R., Zackai, E., Stein, Q., Powell, C. M., Schrier Vergano, S., Britt, A., Sun, A., Smith, W., Bebin, E. M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J. S., Fatemi, A., Vernon, H. J., McClellan, R., Fleming, L. R., Knyszek, B., Steinraths, M., Velasco Gonzalez, C., Beck, A. E., Golden-Grant, K. L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N. H., Ray, J. W., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 2018, In: American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Association Studies 100%
  • Natural History 94%
  • Malocclusion 21%
  • Cleft Palate 20%
  • Counseling 15%
  29 Scopus citations

• ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis

  Gordon-Lipkin, E., Cohen, J. S., Srivastava, S., Soares, B., Levey, E. & Fatemi, A., Nov 1 2018, In: Journal of child neurology. 33, 13, p. 825-831 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Amish Infantile Epilepsy Syndrome 100%
  • Failure to Thrive 85%
  • Gangliosides 82%
  • Intellectual Disability 63%
  • Siblings 41%
  3 Scopus citations
• 2017

  Antioxidant capacity and superoxide dismutase activity in adrenoleukodystrophy

  Turk, B. R., Theisen, B. E., Nemeth, C. L., Marx, J. S., Shi, X., Rosen, M., Jones, R. O., Moser, A. B., Watkins, P. A., Raymond, G. V., Tiffany, C. & Fatemi, A., May 2017, In: JAMA Neurology. 74, 5, p. 519-524 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Superoxide Dismutase 63%
  • Antioxidants 50%
  • Heterozygote 36%
  • 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid 32%
  10 Scopus citations

• Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

  Calloni, S. F., Cohen, J. S., Meoded, A., Juusola, J., Triulzi, F. M., Huisman, T. A. G. M., Poretti, A. & Fatemi, A., May 2017, In: Pediatric Neurology. 70, p. 70-74 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Neurodevelopmental Disorders 100%
  • Diffusion Tensor Imaging 96%
  • Corpus Callosum 95%
  • White Matter 51%
  • Neuroimaging 51%
  9 Scopus citations

• Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy

  Theisen, B. E., Rumyantseva, A., Cohen, J. S., Alcaraz, W. A., Shinde, D. N., Tang, S., Srivastava, S., Pevsner, J. A., Trifunovic, A. & Fatemi, A., Sep 2017, In: American Journal of Medical Genetics, Part A. 173, 9, p. 2505-2510 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Tryptophan-tRNA Ligase 100%
  • Amino Acyl-tRNA Synthetases 78%
  • Leukoencephalopathies 75%
  • Intellectual Disability 53%
  • Athetosis 45%
  20 Scopus citations

• De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

  Martin, S., Chamberlin, A., Shinde, D. N., Hempel, M., Strom, T. M., Schreiber, A., Johannsen, J., Ousager, L. B., Larsen, M. J., Hansen, L. K., Fatemi, A., Cohen, J. S., Lemke, J., Sørensen, K. P., Helbig, K. L., Lessel, D. & Abou Jamra, R., Dec 7 2017, In: American journal of human genetics. 101, 6, p. 1013-1020 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • AMPA Receptors 100%
  • Gait 80%
  • Intellectual Disability 79%
  • Seizures 65%
  • Whole Exome Sequencing 50%