Publications by authors named "Barry Wolf"

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Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
Peter Benn, Yang Wang, Josie Gray, Elizabeth Kramer Dugan, Mark Hajjar, Barry Wolf

Genet Med· March 2025

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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, Barry Wolf

Am J Hum Genet· June 2024

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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, Barry Wolf

Am J Hum Genet· April 2024

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Biotinidase deficiency: What have we learned in forty years?
Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, Evrim Jaccard, Andrea Superti-Furga, Barry Wolf

Mol Genet Metab· April 2023

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Revisiting the administration of biotin to children with biotin-responsive disorders.
Barry Wolf

Mol Genet Metab· October 2022

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Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Elizabeth R Kellom, Barry Wolf, Gregory M Rice, Kimberly E Stepien

J Neuroophthalmol· March 2021

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Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Elizabeth Kellom, Kimberly Stepien, Gregory Rice, Barry Wolf

Mol Genet Metab Rep· March 2021

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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 Tjong, Barry Wolf

J Clin Invest· March 2021

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Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao

Front Neurol· October 2020

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Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
Barry Wolf

Mult Scler J Exp Transl Clin· April 2020

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Response to comment on "High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders".
Barry Wolf

Mol Genet Metab Rep· December 2019

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High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders.
Barry Wolf

Mol Genet Metab· August 2019

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Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
Barry Wolf

Mult Scler Relat Disord· February 2019

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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, Barry Wolf

Am J Hum Genet· February 2019

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Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Romain Deschamps, Julien Savatovsky, Catherine Vignal, Matthieu Fisselier, Apolline Imbard, Barry Wolf

J Neurol Neurosurg Psychiatry· September 2018

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Biotinidase deficiency masquerading as multiple sclerosis?
Barry Wolf

Mult Scler· February 2018

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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

Genet Med· February 2018

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Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
Barry Wolf

J Pediatr Hematol Oncol· January 2018

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"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
Barry Wolf

Neurol Clin Pract· December 2017

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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

Genet Med· October 2017

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Developmental window of sensorineural deafness in biotinidase-deficient mice.
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow

J Inherit Metab Dis· September 2017

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Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Barry Wolf

Genet Med· April 2017

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Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
Patrick Ferreira, Alicia Chan, Barry Wolf

JIMD Rep· February 2017

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Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.
Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf

Mol Genet Metab Rep· December 2016

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