Publications by authors named "Hailey Pinz"

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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz

Ann Clin Transl Neurol· March 2025

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Hailey Pinz

Am J Hum Genet· June 2021

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Caroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P Ferla, Hailey Pinz

Am J Hum Genet· June 2021

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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel variant.
Timothy D Gauntner, Manasa Karumuri, Miguel A Guzman, Sara E Starnes, Sherri Besmer, Hailey Pinz

Clin Case Rep· March 2021

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Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States.
Pournima Navalkele, Miguel Guzman, Amelia Kirby, Hailey Pinz, Joanna Kemp

J Neuropathol Exp Neurol· November 2020

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Further delineation of METTL23-associated intellectual disability.
Mohammed Almannai, Osama Obaid, Eissa Faqeih, Ali Alasmari, Manar M Samman, Hailey Pinz

Am J Med Genet A· April 2020

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Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Tyler B Johnson, Keegan Mechels, Ruthellen H Anderson, Jacob T Cain, David A Sturdevant, Hailey Pinz

Sci Rep· April 2020

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Rare SUZ12 variants commonly cause an overgrowth phenotype.
Sharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, Kit S Yeung, Hailey Pinz

Am J Med Genet C Semin Med Genet· December 2019

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Konrad Platzer, Heinrich Sticht, Stacey L Edwards, William Allen, Kaitlin M Angione, Hailey Pinz

Am J Hum Genet· February 2019

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Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Tyler B Johnson, Keegan Mechels, Ruthellen H Anderson, Jacob T Cain, David A Sturdevant, Hailey Pinz

Sci Rep· November 2018

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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, Hailey Pinz

Am J Med Genet A· April 2018

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De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban

Am J Med Genet A· April 2018

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Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets.
Thomas L Ratchford, Amelia J Kirby, Hailey Pinz, Dhiren R Patel

J Pediatr Gastroenterol Nutr· March 2018

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