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Mor-Shaked, Hagar
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1

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance.  7 (2024)  3 - p. e202302258 , 2024
Link: https://doi.org/10.26508..
 
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2

A neurodevelopmental disorder associated with a loss-of-fun..:

Aguila, Adriana ; Salah, Somaya ; Kulasekaran, Gopinath...
Journal of Biological Chemistry.  300 (2024)  4 - p. 107124 , 2024
Link: https://doi.org/10.1016/..
 
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3

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine.  26 (2024)  4 - p. 101068 , 2024
Link: https://doi.org/10.1016/..
 
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4

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry.  299 (2023)  8 - p. 105012 , 2023
Link: https://doi.org/10.1016/..
 
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5

Prenatal diagnosis of lanosterol synthase deficiency: Fetal..:

Matza Porges, Sigal ; Mor-Shaked, Hagar ; Shaag, Avraham..
European Journal of Medical Genetics.  66 (2023)  10 - p. 104825 , 2023
Link: https://doi.org/10.1016/..
 
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6

Exome sequencing for structurally normal fetuses—yields and..:

Daum, Hagit ; Harel, Tamar ; Millo, Talya...
European Journal of Human Genetics.  31 (2022)  2 - p. 164-168 , 2022
Link: https://doi.org/10.1038/..
 
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7

Clinical presentation and analysis of genotype-phenotype co..:

Even-Or, Ehud ; Schiesel, Gali ; Simanovsky, Natalia...
Bone.  154 (2022)  - p. 116229 , 2022
Link: https://doi.org/10.1016/..
 
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8

Combining cytogenetic and genomic technologies for decipher..:

Michaelson-Cohen, Rachel ; Murik, Omer ; Zeligson, Sharon...
Molecular Genetics and Genomics.  297 (2022)  4 - p. 925-933 , 2022
Link: https://doi.org/10.1007/..
 
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9

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics.  109 (2022)  2 - p. 361-372 , 2022
Link: https://doi.org/10.1016/..
 
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10

A Zebrafish Model for a Rare Genetic Disease Reveals a Cons..:

Confino, Shir ; Dor, Talya ; Tovin, Adi...
International Journal of Molecular Sciences.  23 (2022)  4 - p. 2373 , 2022
Link: https://doi.org/10.3390/..
 
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11

Characterization of a L136P mutation in Formin-like 2 (FMNL..:

Trefzer, Raphael ; Elpeleg, Orly ; Gabrusskaya, Tatyana...
PLOS ONE.  16 (2021)  5 - p. e0252428 , 2021
Link: https://doi.org/10.1371/..
 
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12

Levodopa-responsive dystonia caused by biallelic PRKN exon ..:

Mor-Shaked, Hagar ; Paz-Ebstein, Emuna ; Basal, Adily...
Brain Communications.  3 (2021)  3 - p. , 2021
Link: https://doi.org/10.1093/..
 
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13

Homozygous variant in MADD, encoding a Rab guanine nucleoti..:

Abu-Libdeh, Bassam ; Mor-Shaked, Hagar ; Atawna, Amir A....
European Journal of Human Genetics.  29 (2021)  6 - p. 977-987 , 2021
Link: https://doi.org/10.1038/..
 
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14

The Clinical Aspect of Adaptor Molecules in T Cell Signalin..:

Dinur-Schejter, Yael ; Zaidman, Irina ; Mor-Shaked, Hagar.
Frontiers in Immunology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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15

Whole-exome sequencing accuracy in the diagnosis of primary..:

Gileles-Hillel, Alex ; Mor-Shaked, Hagar ; Shoseyov, David...
ERJ Open Research.  6 (2020)  4 - p. 00213-2020 , 2020
Link: https://doi.org/10.1183/..
 
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