Publications by authors named "Berrin Monteleone"

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Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
Rongrong Zhang, Thomas O'Connell, Berrin Monteleone, Yixi Teng, Paul Wuh-Liang Hwu

Pharmacoeconomics· September 2025

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Hypersensitivity Reaction and a Single-Bag Rapid Desensitization to Idursulfase.
Jenna H Jung, Berrin Monteleone, Meghan McGath, Blanka Kaplan

Am J Med Genet A· August 2025

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Estimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Berrin Monteleone, Katie Forster, Gin Nie Chua, Rongrong Zhang, Andrew Lloyd

Health Qual Life Outcomes· January 2025

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TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Phan Q Duy, Bettina Jux, Shujuan Zhao, Kedous Y Mekbib, Evan Dennis, Berrin Monteleone

Brain· December 2024

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ChatGPT: a pioneering approach to complex prenatal differential diagnosis.
Anju Suhag, Jennifer Kidd, Meghan McGath, Raeshmma Rajesh, Joseph Gelfinbein, Berrin Monteleone

Am J Obstet Gynecol MFM· August 2023

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Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.
Jennifer Kidd, Elizabeth Patberg, Meghan McGath, Berrin Monteleone, Martin Chavez

Prenat Diagn· August 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Berrin Monteleone

Genet Med· January 2023

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Clinical experience: Outcomes of mesenchymal stem cell transplantation in five stroke patients.
Nesrin Ercelen, Nilgun Karasu, Bulent Kahyaoglu, Onder Cerezci, Rana Cagla Akduman, Berrin Monteleone

Front Med (Lausanne)· January 2023

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Berrin Monteleone

Am J Hum Genet· March 2021

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Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
Berrin Monteleone, Keith Hyland

BMC Neurol· January 2020

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A Novel Case of Marfan Syndrome in an Infant With Hypoplastic Left Heart Syndrome.
Aravinth Karunanandaa, Kari Crawford Plant, James René Herlong, Berrin Monteleone, Paul M Kirshbom

World J Pediatr Congenit Heart Surg· September 2019

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, Fallon Brewer, Tracy Stroud, Berrin Monteleone

Am J Med Genet A· February 2015

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