Publications by authors named "Yaron Yuval"

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Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Yuval Yaron

Prenat Diagn· December 2025

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Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impact.
Vered Offen Glasner, Adi Botvinik, Adi Mory, Adi Reches, Hagit Baris Feldman, Yuval Yaron

Am J Obstet Gynecol MFM· December 2025

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Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, Michal Levy, Yuval Yaron

Prenat Diagn· December 2025

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High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.
Dvir Penn, Yam Amir, Gil Ben David, Alina Kurolap, Dalit Barel, Yuval Yaron

Mov Disord Clin Pract· November 2025

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Overview and expansion of CEP85L-associated lissencephaly.
Isabell Schumann, Rami Abou Jamra, Robin-Tobias Jauss, Maike Karnstedt, Ulrich Specht, Yuval Yaron

Eur J Med Genet· October 2025

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A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF.
Zippora Brownstein, Lara Kamal, Shir Mishan-Montefiori, Yael Hoffman, Dina Fine, Yuval Yaron

Hum Genomics· October 2025

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A rare homozygous variant with distinct clinical features in unrelated families of Iraqi Jewish descent.
Nurit Assia Batzir, Naama Orenstein, Yuval Yaron, Alla Kuzminsky, Yoram Nevo

J Neuromuscul Dis· March 2025

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Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.
Yuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, Nurit Goldstein, Haike Reznik Wolf

NPJ Digit Med· March 2025

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A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing.
Dorin Trigubov, Vered Ofen-Glassner, Bar Levy, Adi Mory, Igal Wolman, Yuval Yaron

Prenat Diagn· February 2025

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Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.
Hadas Miremberg, Roee Birnbaum, Dorin Trigubov, Adi Botvinik, Yuval Yaron

Prenat Diagn· November 2024

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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
Dalit Barel, Daphna Marom, Penina Ponger, Alina Kurolap, Anat Bar-Shira, Yuval Yaron

J Neurol· July 2024

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Expanded targeted preconception screening panel in Israel: findings and insights.
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Yuval Yaron

J Med Genet· July 2024

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Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Yuval Yaron

Prenat Diagn· April 2024

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Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, Yuval Yaron, Adi Reches

Prenat Diagn· April 2024

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Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.
Hiba J Mustafa, Enaja V Sambatur, Julie P Barbera, Giorgio Pagani, Yuval Yaron

Am J Obstet Gynecol MFM· September 2023

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SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Noa Hourvitz, Alina Kurolap, Adi Mory, Karina Krajden Haratz, Dvora Kidron, Yuval Yaron

Prenat Diagn· September 2023

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Yuval Yaron

Am J Hum Genet· August 2023

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International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients.
Ignatia B Van den Veyver, Yuval Yaron, Zandra C Deans

Prenat Diagn· April 2023

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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Yuval Yaron

Hum Genomics· March 2023

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Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Yuval Yaron

Prenat Diagn· November 2022

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Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism.
Lena Sagi-Dain, Boaz Weisz, Karina Haratz Krajden, Amihood Singer, Yuval Yaron

Brain· October 2022

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Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations.
Revital Kariv, Dvir Dahary, Yuval Yaron, Yael Petel-Galil, Mira Malcov

Genes (Basel)· August 2022

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A founding father of reproductive genetics: Eugene Pergament (1933-2022).
Howard Cuckle, Peter Benn, Yuval Yaron

Prenat Diagn· July 2022

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Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.
Sivan Reytan, Noa Zunz Henig, Yoav Yinon, Hagai Avnet, Alina Kurolap, Yuval Yaron

Prenat Diagn· June 2022

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Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the gene.
Roxana Cleper, Adi Reches, Dana Shapira, Sharon Simchoni, Lewis Reisman, Yuval Yaron

Transl Pediatr· December 2021

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