Publications by authors named "Helio Pedro"

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Newborn Screening for Gaucher Disease: The New Jersey Experience.
Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro

Int J Neonatal Screen· May 2025

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Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Helio F Pedro

medRxiv· December 2023

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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Museer A Lone, Mari J Aaltonen, Aliza Zidell, Helio F Pedro, Jonas A Morales Saute

J Clin Invest· September 2022

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The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, Nicola Longo, T Andrew Burrow, Helio Pedro

Mol Genet Metab· May 2022

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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Steven Ghanny, Aliza Zidell, Helio Pedro, Sjoerd D. Joustra, Monique Losekoot

J Clin Res Pediatr Endocrinol· November 2021

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Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
Alanna Strong, Laurie Simone, Anthony Krentz, Courtney Vaccaro, Deborah Watson, Helio F Pedro

Am J Med Genet A· August 2021

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Helio Pedro

Nat Med· July 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Pedro S Pinto, Helio Pedro

J Clin Endocrinol Metab· January 2021

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mutations in the X-linked gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Daphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Helio Pedro

J Med Genet· December 2020

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A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive.
Jessenia C Guerrero, Helio Pedro, Sarah Parisotto, Debra Heller, Ada Baisre-de Leon

Pediatr Dev Pathol· April 2020

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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.
Jennifer L Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K Stefanatos, Helio Pedro

Orphanet J Rare Dis· August 2019

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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Helio Pedro

Hum Mol Genet· December 2017

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encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Helio F Pedro

J Med Genet· July 2017

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Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Eric Segal, Helio Pedro, Karen Valdez-Gonzalez, Sarah Parisotto, Felicia Gliksman

Pediatr Neurol· November 2016

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Helio Pedro

Hum Mutat· November 2015

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Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
Javier Aisenberg, Valerie Auyeung, Helio F Pedro, Rachel Sugalski, Amy Chartoff

Horm Res Paediatr· April 2011

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Glutaric aciduria type II and narcolepsy in pregnancy.
Shauna F Williams, Jesus R Alvarez, Helio F Pedro, Joseph J Apuzzio

Obstet Gynecol· February 2008

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Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism.
Robert Wallerstein, Sivya Twersky, Paige Layman, Liz Kernaghan, Hana Aviv, Helio F Pedro

Am J Med Genet A· August 2005

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Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Barry Wolf, Kevin P Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, Helio F Pedro

Hum Mutat· April 2005

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