Publications by authors named "Yuri Zarate"

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ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.
Yuri A Zarate, Lina Abdelmoti, Seungjae Oh, Andreya White, Cassandra Starks

Clin Genet· December 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Yuri A Zarate

Am J Hum Genet· October 2025

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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
Joery den Hoed, Fleur Semmekrot, Jolijn Verseput, Alexander J M Dingemans, Dick Schijven, Yuri A Zarate

HGG Adv· October 2025

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'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Yordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, Liubinka Mirakovska, Alison Foster, Yuri Zarate

J Med Genet· September 2025

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Familial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.
Eric Honaker, Andrew Birkhead, Kennedy Guillen, Melissa Knuckles, Florence Lima, Yuri A Zarate

JBMR Plus· June 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Yuri A Zarate

EBioMedicine· May 2025

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Quantitative Phenotype Morbidity Description of -Associated Syndrome.
Yuri A Zarate, Katherine Bosanko, Amrit Kannan, Ashlen Thomason, Beth Nutt

Hum Mutat· April 2025

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Listening to patients with suspected genetic diagnoses: A narrative perspective.
Robert B Slocum, Anna C E Hurst, Ellis Shelley, Lisa Berry, Robert J Hopkin, Yuri A Zarate

Am J Med Genet C Semin Med Genet· November 2024

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Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.
Roberto Collu, Yuri A Zarate, Weiming Xia, Jennifer L Fish

Metab Brain Dis· November 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Yuri A Zarate

medRxiv· October 2024

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Pathogenic missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
Joery den Hoed, Hirokazu Hashimoto, Mubeen Khan, Fleur Semmekrot, Katherine A Bosanko, Yuri A Zarate

J Med Genet· October 2024

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NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.
Bobby L Boyanton, Yuri A Zarate, Brannon G Broadfoot, Thomas Kelly, Brendan D Crawford

Lab Med· September 2024

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Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.
Yuri A Zarate, Katherine Bosanko, Nada Derar, Jennifer L Fish

Clin Genet· August 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Yuri A Zarate

Res Sq· June 2024

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Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Yuri A Zarate, Katherine Bosanko, Aline Andres, Jennifer L Fish

Am J Med Genet A· February 2024

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Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.
Ravi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, Yuri A Zarate, Carlos A Bacino

EClinicalMedicine· November 2023

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Yuri A Zarate

Am J Hum Genet· May 2023

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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, Yuri A Zarate

Brain· April 2023

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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal, Yuri A Zarate

Am J Hum Genet· January 2023

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Growth in individuals with SATB2-associated syndrome.
Yuri A Zarate, Amrit Kannan, Katherine A Bosanko, Aisling R Caffrey

Am J Med Genet A· October 2022

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A clinical scoring system for early onset (neonatal) Marfan syndrome.
Yuri A Zarate, Shaine A Morris, Anna Blackshare, Claudia A Algaze, Brynn S Connor

Genet Med· July 2022

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Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome.
Brynn S Connor, Claudia A Algaze, Aistė Narkevičiūtė, Beatriz Anguiano, Mitchel Pariani, Yuri A Zarate

Am J Cardiol· July 2022

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The landscape of submicroscopic structural variants at the gene cluster on Xq28 underlying blue cone monochromacy.
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Yuri A Zarate

Proc Natl Acad Sci U S A· July 2022

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Craniosynostosis is a feature of Costello syndrome.
K Nicole Weaver, Marguerite Care, Emily Wakefield, Yuri A Zarate, Jesse Skoch

Am J Med Genet A· April 2022

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