Publications by authors named "Steven D Klein"

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Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Alex F Nisbet, Aravind Viswanathan, Andrew M George, Pedro Arias, Steven D Klein

Am J Med Genet A· December 2024

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Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.
Jennifer M Kalish, Kerri D Becktell, Gaëlle Bougeard, Garrett M Brodeur, Lisa R Diller, Steven D Klein

Clin Cancer Res· December 2024

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Overgrowth syndromes, diagnosis and management.
Steven D Klein, Alex Nisbet, Jennifer M Kalish

Curr Opin Pediatr· December 2023

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Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp).
Steven D Klein, Madison DeMarchis, Rebecca L Linn, Suzanne P MacFarland, Jennifer M Kalish

Cancers (Basel)· April 2023

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Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
Kelly A Duffy, Evan R Hathaway, Steven D Klein, Arupa Ganguly, Jennifer M Kalish

Cold Spring Harb Mol Case Stud· December 2021

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Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.
Steven D Klein, Julian A Martinez-Agosto

Microrna· May 2021

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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Sureni V Mullegama, Steven D Klein, Stephen R Williams, Jeffrey W Innis, Frank J Probst

Sci Rep· May 2021

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Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Steven D Klein, Dzung C Nguyen, Viraj Bhakta, Derek Wong, Vivian Y Chang

Am J Med Genet A· December 2019

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Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Sureni V Mullegama, Steven D Klein, Rebecca H Signer, , Eric Vilain

Mol Genet Genomic Med· February 2019

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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer

Genet Med· December 2017

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De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Sureni V Mullegama, Steven D Klein, Milene V Mulatinho, Tharanga Niroshini Senaratne, Kathryn Singh

Am J Med Genet A· May 2017

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Pancreas divisum, an evidence-based review: part II, patient selection and treatment.
Steven D Klein, John P Affronti

Gastrointest Endosc· October 2004

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Pancreas divisum, an evidence-based review: part I, pathophysiology.
Steven D Klein, John P Affronti

Gastrointest Endosc· September 2004

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