Publications by authors named "Hagit Baris Feldman"

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

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

Am J Obstet Gynecol MFM· 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, Hagit Baris Feldman

Mov Disord Clin Pract· November 2025

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A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
Sharon Bratman Morag, Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Durr, Hagit Baris Feldman

Genet Med· November 2025

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c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.
Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, Abdel Salam Abu-Libdeh, Clara Velmans, Hagit Baris Feldman

J Med Genet· June 2025

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Deletion of noncoding exons 1-2 causes Smith-Magenis syndrome.
Uri Hamiel, Alina Kurolap, Chofit Chai Gadot, Adi Mory, Anat Bar Shira, Hagit Baris Feldman

J Genet· May 2025

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Changes in glycinergic neurotransmission alter mammalian retinal information processing.
Anneka Joachimsthaler, Katharina Hauf, Anja Armbruster, Shiri Zayit-Soudry, Efrat Naaman, Hagit Baris Feldman

Front Mol Neurosci· May 2025

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Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping.
Sapir Margalit, Zuzana Tulpová, Tahir Detinis Zur, Yael Michaeli, Jasline Deek, Hagit Baris Feldman

NAR Genom Bioinform· 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, Hagit Baris Feldman

NPJ Digit Med· March 2025

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The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition.
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, Hagit Baris Feldman, Andrew Yaworsky

Orphanet J Rare Dis· February 2025

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Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Alina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv, Tova Hershkovitz, Emily Avitan-Hersh, Hagit Baris Feldman

Ann Intern Med· January 2025

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Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype.
Ahmad Fokra, Hagit Baris Feldman, Alina Kurolap, Safa Kinaneh, Zaid Abassi

Mol Genet Metab· October 2024

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The d3GHR carrier epigenome in Druze clan longevity.
Ghadeer Falah, Alina Kurolap, Tamar Paperna, Nina Ekhilevitch, Nivin Moustafa, Hagit Baris Feldman

Sci Rep· September 2024

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Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments.
Leighann Litcher-Kelly, Ahmet Ozen, Sarah Ollis, Hagit Baris Feldman, Andrew Yaworsky

Orphanet J Rare Dis· August 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, Hagit Baris Feldman

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, Hagit Baris Feldman

J Med Genet· July 2024

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Hagit Baris Feldman

Am J Hum Genet· July 2024

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PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.
Michal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, Hagit Baris Feldman

Am J Med Genet A· June 2024

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Long-Read Structural and Epigenetic Profiling of a Kidney Tumor-Matched Sample with Nanopore Sequencing and Optical Genome Mapping.
Sapir Margalit, Zuzana Tulpová, Tahir Detinis Zur, Yael Michaeli, Jasline Deek, Hagit Baris Feldman

bioRxiv· June 2024

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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Hagit Baris Feldman

Lancet Oncol· May 2024

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply.
Alina Kurolap, Chofit Chai Gadot, Hagit Baris Feldman

N Engl J Med· April 2024

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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Hagit Baris Feldman

Hum Genet· March 2024

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Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Ahmet Ozen, Voranush Chongsrisawat, Asena Pinar Sefer, Burcu Kolukisa, Jessica J Jalbert, Hagit Baris Feldman

Lancet· February 2024

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National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Hagit Baris Feldman

JAMA Netw Open· February 2024

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Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health.
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman

Clin Transl Med· January 2024

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