Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Damseh, Nadirah S., Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora C., Habib, Clair, Josefsberg, Sagi, Korman, Stanley H., Kneller, Katya, Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Hanna, Manor, Yehoshua, Moady Abdalla, Tameemi, Rock, Rachel, Rostami, Nira, Saada, Ann, Saraf‐Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Staretz‐Chacham, Orna, Tal, Galit, Ulanovsky, Igor, Vaisid, Taly, Wilnai, Yael, Almashanu, Shlomo
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Hereditary orotic aciduria identified by newborn screening
Staretz-Chacham, Orna, Damseh, Nadirah S, Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C, Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H, Almashanu, Shlomo
Published in Frontiers in genetics (14.03.2023)
Published in Frontiers in genetics (14.03.2023)
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Journal Article
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue
Kurolap, Alina, Barel, Dalit, Shaul Lotan, Nava, Wexler, Isaiah, Chai Gadot, Chofit, Mory, Adi, Barel, Ortal, Almashanu, Shlomo, Baris Feldman, Hagit
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
Birnbaum, Rivka, Ezer, Shlomit, Lotan, Nava Shaul, Eilat, Avital, Sternlicht, Keren, Benyamini, Lilach, Reish, Orit, Falik-Zaccai, Tzipora, Ben-Gad, Gali, Rod, Raya, Segel, Reeval, Kim, Katherine, Burton, Barabra, Keegan, Catherine E, Wagner, Mallory, Henderson, Lindsay B, Mor, Nofar, Barel, Ortal, Hirsch, Yoel, Meiner, Vardiella, Elpeleg, Orly, Harel, Tamar, Mor-Shakad, Hagar
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Abu-Libdeh, Bassam, Mor-Shaked, Hagar, Atawna, Amir A, Gillis, David, Halstuk, Orli, Shaul-Lotan, Nava, Slae, Mordechai, Sultan, Mutaz, Meiner, Vardiella, Elpeleg, Orly, Harel, Tamar
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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The role of orotic acid measurement in routine newborn screening for urea cycle disorders
Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
Aguila, Adriana, Salah, Somaya, Kulasekaran, Gopinath, Shweiki, Moatasem, Shaul-Lotan, Nava, Mor-Shaked, Hagar, Daana, Muhannad, Harel, Tamar, McPherson, Peter S.
Published in The Journal of biological chemistry (01.04.2024)
Published in The Journal of biological chemistry (01.04.2024)
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Journal Article
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
Kobayashi, Erica Sanford, Lotan, Nava Shaul, Schejter, Yael Dinur, Makowski, Christine, Kraus, Verena, Ramchandar, Nanda, Meiner, Vardiella, Thiffault, Isabelle, Farrow, Emily, Cakici, Julie, Kingsmore, Stephen, Wagner, Matias, Rieber, Nikolaus, Bainbridge, Matthew
Published in The Journal of pediatrics (01.11.2024)
Published in The Journal of pediatrics (01.11.2024)
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Journal Article
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
Pode-Shakked, Ben, Landau, Yuval E, Shaul Lotan, Nava, Manor, Joshua, Haham, Nitsan, Kristal, Eyal, Hershkovitz, Eli, Hazan, Guy, Haham, Yarden, Almashanu, Shlomo, Anikster, Yair, Staretz-Chacham, Orna
Published in Journal of inherited metabolic disease (23.07.2024)
Published in Journal of inherited metabolic disease (23.07.2024)
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Journal Article
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Smith, Thomas B, Rea, Alessandro, Thomas, Huw B, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava Shaul, Gilboa, Tal, Herman, Kristin C, McCorvie, Thomas J, Yue, Wyatt W, Houlden, Henry, Taylor, Robert W, Newman, William G, O'Keefe, Raymond T
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns
Rock, Rachel, Rock, Oded, Daas, Suha, Biton-Regev, Vered, Sagiv, Nadav, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Cohen, Ronen Hady, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora, Herskovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Kneller, Katya, Korman, Stanley H, Landau, Yuval E, Lerman-Sagie, Tally, Mandel, Hanna, Pras, Elon, Reznik-Wolf, Haike, Shaag, Avraham, Lotan, Nava Shaul, Spiegel, Ronen, Tal, Galit, Staretz-Chacham, Orna, Wilnai, Yael, Almashanu, Shlomo
Published in Journal of inherited metabolic disease (24.09.2024)
Published in Journal of inherited metabolic disease (24.09.2024)
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Journal Article
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Journal Article
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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