Publications by authors named "Scott Hickey"

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Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.
Jacquelyn R Evans, Jennifer M Ladd, Miriam R Conces, Scott E Hickey, Daniel C Koboldt

J Pediatr Adolesc Gynecol· December 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Scott E Hickey

J Clin Invest· November 2025

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Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.
Laura M Bryant, Rose Hokanson, Scott E Hickey, Bianca Zapanta, Jesse Hunter

Clin Case Rep· November 2025

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A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
Brandon S Stone, Swetha Ramadesikan, Regan McGinley, Scott E Hickey, Leeran B Dublin-Ryan

Am J Med Genet A· October 2025

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Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, Ivan Ivanovski, Gianluca Piatelli, Scott E Hickey

Am J Med Genet A· September 2025

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Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities.
Cory M Resnick, Jody E Heffernan, Snigdha Jindal, Zaara Mehra, Irfan Ahmad, Scott E Hickey

Plast Reconstr Surg Glob Open· May 2025

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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Scott E Hickey

Genet Med· April 2025

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De novo antibody identification in human blood from full-length single B cell transcriptomics and matching haplotype-resolved germline assemblies.
John Beaulaurier, Lynn Ly, J Andrew Duty, Carly Tyer, Christian Stevens, Scott Hickey

Genome Res· April 2025

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, Scott E Hickey

Nat Commun· February 2025

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Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.
Laura D Owlett, Bianca Zapanta, Sarah E Sandkuhler, Elizabeth G Ames, Scott E Hickey

Am J Med Genet A· October 2024

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GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells.
Saravanan Ganesan, Mariela Cortés-López, Ariel D Swett, Xiaoguang Dai, Scott Hickey

STAR Protoc· June 2024

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High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer.
Tobias T Schmidt, Carly Tyer, Preeyesh Rughani, Candy Haggblom, Jeffrey R Jones, Scott Hickey

Nat Commun· June 2024

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Borg extrachromosomal elements of methane-oxidizing archaea have conserved and expressed genetic repertoires.
Marie C Schoelmerich, Lynn Ly, Jacob West-Roberts, Ling-Dong Shi, Cong Shen, Scott Hickey

Nat Commun· June 2024

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De novo antibody discovery in human blood from full-length single B cell transcriptomics and matching haplotyped-resolved germline assemblies.
John Beaulaurier, Lynn Ly, J Andrew Duty, Carly Tyer, Christian Stevens, Scott Hickey

bioRxiv· March 2024

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Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Peter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, Luigi D Notarangelo, Elie Haddad, Scott E Hickey

J Clin Immunol· January 2024

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, Scott E Hickey

medRxiv· January 2024

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Scott E Hickey

Brain· December 2023

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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Amélie Pinard, Wenlei Ye, Stuart M Fraser, Jill A Rosenfeld, Pavel Pichurin, Scott E Hickey

Brain· September 2023

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Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths.
Mariela Cortés-López, Paulina Chamely, Allegra G Hawkins, Robert F Stanley, Ariel D Swett, Scott Hickey

Cell Stem Cell· September 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Scott E Hickey

Am J Med Genet A· July 2023

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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio J De Castro, Scott E Hickey

Genet Med· February 2023

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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Peter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, Luigi D Notarangelo, Elie Haddad, Scott E Hickey

J Clin Immunol· February 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Scott E Hickey

Genet Med· February 2023

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Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Summer R Fair, Wesley Schwind, Dominic L Julian, Alecia Biel, Gongbo Guo, Scott E Hickey

Brain· January 2023

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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques, Scott Hickey

Am J Med Genet A· January 2023

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