Publications by authors named "Hagit Daum"

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RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants.
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I Rosenbloom, Hagit Daum

Clin Genet· November 2025

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Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics.
Limor Meoded Danon, Tamar Paperna, Hagit Daum, Shachar Zuckerman

Arch Sex Behav· November 2025

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A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.
Nurcan Hastar, Hagit Daum, Nikoletta Kardos-Török, Gael Ganz, Leon Obendorf

J Clin Invest· September 2025

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High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Hagit Daum

Clin Genet· September 2025

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'When Lightning Strikes Twice'-Preimplantation Genetic Testing for Two Indications in One Biopsy.
Einav Kremer, Hagit Daum, Amy Solnica, Tamar Krisher, Assaf Ben Meir

Prenat Diagn· May 2025

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Lethal acantholytic epidermolysis bullosa- a report on the prenatal phenotype of two cases and a review of antenatal sonographic signs of congenital denuding skin diseases.
Maya Lehavi, Hagit Daum, Nuphar Hacohen, Michal Gur, Jonathan Rips

BMC Pregnancy Childbirth· March 2025

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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, Hagit Daum

Prenat Diagn· April 2024

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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L Gramegna, Benedikt Zott, Hagit Daum

Am J Hum Genet· March 2024

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A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.
Hagit Daum, Einav Kremer, Ayala Frumkin, Vardiella Meiner, Hagit Diamant

J Pediatr Adolesc Gynecol· February 2024

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Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Sigal Matza Porges, Hagar Mor-Shaked, Avraham Shaag, Shay Porat, Hagit Daum

Eur J Med Genet· October 2023

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Autosomal dominant inheritance with sex-limited infertility.
Hagit Daum, Joël Zlotogora

Am J Med Genet A· June 2023

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[THE DIFFERENTIAL DIAGNOSIS OF EXTREMELY HIGH MATERNAL SERUM ALPHA FETOPROTEIN - A CASE REPORT].
Hadas Allouche Kam, Dov Popper, Elias Castel, Simcha Yagel, Hagit Daum

Harefuah· June 2023

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Exome sequencing for structurally normal fetuses-yields and ethical issues.
Hagit Daum, Tamar Harel, Talya Millo, Avital Eilat, Duha Fahham

Eur J Hum Genet· February 2023

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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
Hagit Daum, Reeval Segel, Vardiella Meiner, Yael Goldberg, Sharon Zeligson

J Med Genet· January 2023

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The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Tova Wagner, Duha Fahham, Ayala Frumkin, Avraham Shaag, Simcha Yagel, Hagit Daum

Prenat Diagn· June 2022

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Fanconi Anemia Gene Variants in Patients with Gonadal Dysfunction.
Hagit Daum, Joël Zlotogora

Reprod Sci· May 2022

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Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Hagit Daum, Mythily Ganapathi, Yoel Hirsch, Emily L Griffin, Charles A LeDuc

Am J Med Genet A· January 2022

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The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
Keren Tzadikevitch Geffen, Amihood Singer, Idit Maya, Shay Ben-Shachar, Lena Sagi-Dain, Hagit Daum

Fetal Diagn Ther· November 2021

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Is it time for prenatal chromosomal-microarray analysis to all women? A review of the diagnostic yield in structurally normal fetuses.
Hagit Daum, Shira Stern, Shiri Shkedi-Rafid

Curr Opin Obstet Gynecol· April 2021

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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Keren Tzadikevitch Geffen, Amihood Singer, Idit Maya, Lena Sagi-Dain, Morad Khayat, Hagit Daum

Arch Gynecol Obstet· January 2021

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Prevalence and Characteristics of Postpartum Vulvovaginal Atrophy and Lack of Association With Postpartum Dyspareunia.
Ahinoam Lev-Sagie, Hagai Amsalem, Yaacov Gutman, Efrat Esh-Broder, Hagit Daum

J Low Genit Tract Dis· October 2020

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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Hagit Daum, Vardiella Meiner, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Michal Levy Zalcberg

Eur J Hum Genet· July 2020

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Grandparental genotyping enhances exome variant interpretation.
Hagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, Avraham Shaag, Shira Silverstein

Am J Med Genet A· April 2020

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Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy.
Hagit Daum, Ayala Frumkin, Vardiella Meiner, Marion Werner, Michal Macarov

Int J Gynaecol Obstet· March 2020

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Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.
Hagit Hochner, Hagit Daum, Liza Douiev, Naama Zvi, Ayala Frumkin

Obstet Gynecol· January 2020

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