BarryWolfMD

PubMed

• De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
  Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush, Karli Block...> ;American Journal of Human Genetics. 2024 Apr 4
• 1 citations
  Revisiting the administration of biotin to children with biotin-responsive disorders.
  Barry Wolf> ;Molecular Genetics and Metabolism. 2022 Jul 6
• 13 citations
  Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
  Najim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. de Laughter, Fleur V.Y. Tjong, Lenka Piherová, Forrest Z. Bowling, Dominic S Zimmerman, Elisabeth M. L...> ;The Journal of Clinical Investigation. 2021 Mar 1
• 3 citations
  Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
  Elizabeth R. Kellom, Kimberly E Stepien, Gregory M. Rice, Barry Wolf> ;Molecular Genetics and Metabolism Reports. 2021 Mar 1
• 3 citations
  Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
  Geraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran> ;Frontiers in Neurology. 2020 Oct 26
• 1 citations
  Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
  Barry Wolf> ;Multiple Sclerosis Journal - Experimental, Translational and Clinical. 2020 Apr 29
• Response to comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-resp...
  Barry Wolf> ;Molecular Genetics and Metabolism Reports. 2019 Sep 6
• 5 citations
  High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabol...
  Barry Wolf> ;Molecular Genetics and Metabolism. 2019 Jul 9
• 31 citations
  Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
  Mythily Ganapathi, Leah R. Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard E. Person, Ping Yee Billie Au, Julia Tagoe, Marie T. McDonald, Danielle K...> ;American Journal of Human Genetics. 2019 Feb 7
• 13 citations
  Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
  Barry Wolf> ;Multiple Sclerosis and Related Disorders. 2019 Feb 1
• 1 citations
  Are we missing patients with biotinidase deficiency in France
  Romain Deschamps, Bruno Stankoff, Catherine Vignal, J.F. Benoist, Barry Wolf, Olivier Gout> ;Revue Neurologique. 2018 May 1
• 3 citations
  Biotinidase deficiency masquerading as multiple sclerosis
  Barry Wolf> ;Multiple Sclerosis. 2018 Feb 1
• ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
  Erin T. Strovel, Tina M. Cowan, Anna I Scott, Barry Wolf> ;Genetics in Medicine. 2017 Dec 14
• 15 citations
  Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy
  Romain Deschamps, Julien Savatovsky, Catherine Vignal, Matthieu Fisselier, Apolline Imbard, Barry Wolf, Melinda Procter, Olivier Gout> ;Journal of Neurology, Neurosurgery, and Psychiatry. 2018 Sep 1
• Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
  Barry Wolf> ;Journal of Pediatric Hematology/oncology. 2017 Oct 1
• 29 citations
  Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
  Erin T. Strovel, Tina M. Cowan, Anna I Scott, Barry Wolf> ;Genetics in Medicine. 2017 Jul 5
• 6 citations
  "Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
  Barry Wolf> ;Neurology. Clinical Practice. 2017 Dec 1
• Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81...
  Danika Nadeen Senanayake, Eresha Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin G. Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf> ;Molecular Genetics and Metabolism Reports. 2017 Jun 1
• 2 citations
  Developmental window of sensorineural deafness in biotinidase-deficient mice
  Kathleen J. Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow> ;Journal of Inherited Metabolic Disease. 2017 May 17
• 26 citations
  Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
  Barry Wolf> ;Genetics in Medicine. 2017 Apr 1
• 15 citations
  Irreversibility of symptoms with biotin therapy in an adult with profound biotinidase deficiency
  Patrick Ferreira, Alicia Chan, Barry Wolf> ;JIMD Reports. 2017 Jan 1
• Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.
  Chris Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf> ;Molecular Genetics and Metabolism Reports. 2016 Dec 1
• 11 citations
  Clinical utility gene card for: Biotinidase deficiency—update 2015
  Sébastien Küry, Vincent Ramaekers, Stéphane Bézieau, Barry Wolf> ;European Journal of Human Genetics. 2016 Jul 1
• 4 citations
  First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
  Barry Wolf> ;Molecular Genetics and Metabolism Reports. 2016 Mar 1
• 14 citations
  Forty-eight novel mutations causing biotinidase deficiency.
  Melinda Procter, Barry Wolf, Rong Mao> ;Molecular Genetics and Metabolism. 2016 Mar 1
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