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Author/Creator Harel, Tamar

1. 22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Issue 4 (22nd March 2017)

Authors:
Falah, Nadia; Posey, Jennifer E.; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R.; Harel, Tamar
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
1066
Record Type:
Journal Article
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3. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. Issue 4 (13th January 2021)

Authors:
Mor‐Shaked, Hagar; Salah, Somaya; Yanovsky‐Dagan, Shira; Meiner, Vardiella; Atawneh, Osama M.; Abu‐Libdeh, Bassam; Elpeleg, Orly; Harel, Tamar
Journal:
Clinical genetics
Issue:
Volume 99:Issue 4(2021)
Page Start:
577
Record Type:
Journal Article
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4. Can we predict the need for pharmacological treatment according to demographic and clinical characteristics in gestational diabetes?. (2nd July 2016)

Authors:
Meshel, Shelly; Schejter, Eduardo; Harel, Tamar; Maslovitz, Sharon; Germez, Nurit; Elimelech, Batya; Cohen, Bili; Azuri, Joseph
Journal:
Journal of maternal-fetal & neonatal medicine
Issue:
Volume 29:Number 13(2016)
Page Start:
2062
Record Type:
Journal Article
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5. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Issue 8 (25th June 2022)

Authors:
Penon‐Portmann, Monica; Eldomery, Mohammad K.; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M.; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R.; Shieh, Joseph T.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 8(2022)
Page Start:
2360
Record Type:
Journal Article
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7. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Issue 19 (2nd March 2022)

Authors:
Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 19(2022)
Page Start:
3231
Record Type:
Journal Article
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8. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Issue 3 (19th May 2020)

Authors:
Buratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Héron, Delphine; Cong, Feng; Harel, Tamar
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 3(2021)
Page Start:
205
Record Type:
Journal Article
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