Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis
Breuer, Oded, Daum, Hagit, Cohen-Cymberknoh, Malena, Unger, Susanne, Shoseyov, David, Stepensky, Polina, Keller, Baerbel, Warnatz, Klaus, Kerem, Eitan
Published in Respiratory medicine (01.05.2017)
Published in Respiratory medicine (01.05.2017)
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Journal Article
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Daum, Hagit, Meiner, Vardiella, Michaelson-Cohen, Rachel, Sukenik-Halevy, Rivka, Zalcberg, Michal Levy, Bar-Ziv, Anat, Weiden, A Tzvi, Scher, Sholem Y, Shohat, Mordechai, Zlotogora, Joël
Published in European journal of human genetics : EJHG (01.07.2020)
Published in European journal of human genetics : EJHG (01.07.2020)
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Journal Article
Grandparental genotyping enhances exome variant interpretation
Daum, Hagit, Mor‐Shaked, Hagar, Ta‐Shma, Asaf, Shaag, Avraham, Silverstein, Shira, Shohat, Mordechai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
Tzadikevitch Geffen, Keren, Singer, Amihood, Maya, Idit, Sagi-Dain, Lena, Khayat, Morad, Ben-Shachar, Shay, Daum, Hagit, Michaelson-Cohen, Rachel, Feingold-Zadok, Michal, Sukenik Halevy, Rivka
Published in Archives of gynecology and obstetrics (2021)
Published in Archives of gynecology and obstetrics (2021)
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Journal Article
Fanconi Anemia Gene Variants in Patients with Gonadal Dysfunction
Daum, Hagit, Zlotogora, Joël
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.05.2022)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.05.2022)
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Journal Article
A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion
Daum, Hagit, Kremer, Einav, Frumkin, Ayala, Meiner, Vardiella, Diamant, Hagit, Harel, Iris, Bauman, Dvora
Published in Journal of pediatric & adolescent gynecology (01.02.2024)
Published in Journal of pediatric & adolescent gynecology (01.02.2024)
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Journal Article
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing
Wagner, Tova, Fahham, Duha, Frumkin, Ayala, Shaag, Avraham, Yagel, Simcha, Yanai, Nili, Porat, Shay, Mor‐Shaked, Hagar, Meiner, Vardiella, Daum, Hagit
Published in Prenatal diagnosis (01.06.2022)
Published in Prenatal diagnosis (01.06.2022)
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Journal Article
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Daum, Hagit, Segel, Reeval, Meiner, Vardiella, Goldberg, Yael, Zeligson, Sharon, Weiss, Omri, Stern, Shira, Frumkin, Ayala, Zenvirt, Shamir, Ganz, Gael, Shkedi-Rafid, Shiri
Published in Journal of medical genetics (01.01.2023)
Published in Journal of medical genetics (01.01.2023)
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Journal Article
Exome sequencing for structurally normal fetuses-yields and ethical issues
Daum, Hagit, Harel, Tamar, Millo, Talya, Eilat, Avital, Fahham, Duha, Gershon-Naamat, Shiri, Basal, Adily, Rosenbluh, Chaggai, Yanai, Nili, Porat, Shay, Kabiri, Doron, Yagel, Simcha, Valsky, Dan V, Elpeleg, Orly, Meiner, Vardiella, Mor-Shaked, Hagar
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Journal Article
Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
Hochner, Hagit, Daum, Hagit, Douiev, Liza, Zvi, Naama, Frumkin, Ayala, Macarov, Michal, Kimchi-Shaal, Adva, Hacohen, Nuphar, Eilat, Avital, Faham, Duha, Shkedi-Rafid, Shiri
Published in Obstetrics and gynecology (New York. 1953) (01.01.2020)
Published in Obstetrics and gynecology (New York. 1953) (01.01.2020)
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Journal Article
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting
Revel-Vilk, Shoshana, Shai, Ela, Turro, Ernest, Jahshan, Nivin, Hi-Am, Esti, Spectre, Galia, Daum, Hagit, Kalish, Yossef, Althaus, Karina, Greinacher, Andreas, Kaplinsky, Chaim, Izraeli, Shai, Mapeta, Rutendo, Deevi, Sri V.V., Jarocha, Danuta, Ouwehand, Willem H., Downes, Kate, Poncz, Mortimer, Varon, David, Lambert, Michele P.
Published in Blood (25.10.2018)
Published in Blood (25.10.2018)
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Journal Article
THE DIFFERENTIAL DIAGNOSIS OF EXTREMELY HIGH MATERNAL SERUM ALPHA FETOPROTEIN - A CASE REPORT
Allouche Kam, Hadas, Popper, Dov, Castel, Elias, Yagel, Simcha, Daum, Hagit
Published in הרפואה (01.06.2023)
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Published in הרפואה (01.06.2023)
Journal Article
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies
Daum, Hagit, Lerer, Israela, Frumkin, Ayala, Rosenak, Daniel, Yanai, Nili, Porat, Shay, Yagel, Simcha, Meiner, Vardiella
Published in Prenatal diagnosis (01.01.2018)
Published in Prenatal diagnosis (01.01.2018)
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Journal Article
Prevalence and Characteristics of Postpartum Vulvovaginal Atrophy and Lack of Association With Postpartum Dyspareunia
Lev-Sagie, Ahinoam, Amsalem, Hagai, Gutman, Yaacov, Esh-Broder, Efrat, Daum, Hagit
Published in Journal of lower genital tract disease (01.10.2020)
Published in Journal of lower genital tract disease (01.10.2020)
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Journal Article
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Brugger, Melanie, Lauri, Antonella, Zhen, Yan, Gramegna, Laura L., Zott, Benedikt, Sekulić, Nikolina, Fasano, Giulia, Kopajtich, Robert, Cordeddu, Viviana, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Paradisi, Graziamaria, Zanni, Ginevra, Vasco, Gessica, Carrozzo, Rosalba, Palombo, Flavia, Tonon, Caterina, Lodi, Raffaele, La Morgia, Chiara, Arelin, Maria, Blechschmidt, Cristiane, Finck, Tom, Sørensen, Vigdis, Kreiser, Kornelia, Strobl-Wildemann, Gertrud, Daum, Hagit, Michaelson-Cohen, Rachel, Ziccardi, Lucia, Zampino, Giuseppe, Prokisch, Holger, Abou Jamra, Rami, Fiorini, Claudio, Arzberger, Thomas, Winkelmann, Juliane, Caporali, Leonardo, Carelli, Valerio, Stenmark, Harald, Tartaglia, Marco, Wagner, Matias
Published in American journal of human genetics (07.03.2024)
Published in American journal of human genetics (07.03.2024)
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Journal Article
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
Daum, Hagit, Ganapathi, Mythily, Hirsch, Yoel, Griffin, Emily L., LeDuc, Charles A., Hagen, Jacob, Yagel, Simcha, Meiner, Vardiella, Chung, Wendy K., Mor‐Shaked, Hagar
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article