Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

Por Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Publicado no Neurol Genet (2016)

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

Por Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Publicado em 2001

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

Por Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann
Publicado no JIMD Rep (2016)

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Por Edvardson, Simon , Shaag, Avraham , Kolesnikova, Olga , Gomori, John Moshe , Tarassov, Ivan , Einbinder, Tom , Saada, Ann , Elpeleg, Orly 
Publicado em 2007

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Por Saada, Ann, Edvardson, Simon, Rapoport, Matan, Shaag, Avraham, Amry, Khaled, Miller, Chaya, Lorberboum-Galski, Haya, Elpeleg, Orly
Publicado em 2008

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Por Shteyer, Eyal, Saada, Ann, Shaag, Avraham, Al-Hijawi, Fida' Aziz, Kidess, Rojette, Revel-Vilk, Shoshanah, Elpeleg, Orly
Publicado em 2009

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Por Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann
Publicado no Eur J Hum Genet (2015)

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Por Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A
Publicado em 2009

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

Por Erlich, Yaniv, Edvardson, Simon, Hodges, Emily, Zenvirt, Shamir, Thekkat, Pramod, Shaag, Avraham, Dor, Talya, Hannon, Gregory J., Elpeleg, Orly
Publicado em 2011

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

Por Maor-Sagie, Esther, Cinnamon, Yuval, Yaacov, Barak, Shaag, Avraham, Goldsmidt, Hannoch, Zenvirt, Shamir, Laufer, Neri, Richler, Carmelit, Frumkin, Ayala
Publicado no J Assist Reprod Genet (2015)

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

Por Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Publicado no Eur J Hum Genet (2016)

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Por Edvardson, Simon, Shaag, Avraham, Zenvirt, Shamir, Erlich, Yaniv, Hannon, Gregory J., Shanske, Alan L., Gomori, John Moshe, Ekstein, Joseph, Elpeleg, Orly
Publicado em 2010

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Por Edvardson, Simon, Shaag, Avraham, Zenvirt, Shamir, Erlich, Yaniv, Hannon, Gregory J., Shanske, Alan L., Gomori, John Moshe, Ekstein, Joseph, Elpeleg, Orly
Publicado em 2010

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Por Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly
Publicado em 2008

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency

Por Stepensky, Polina, Keller, Baerbel, Abuzaitoun, Omar, Shaag, Avraham, Yaacov, Barak, Unger, Susanne, Seidl, Maximilian, Rizzi, Marta, Weintraub, Michael, Elpeleg, Orly, Warnatz, Klaus
Publicado no Haematologica (2015)

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease

Por Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar
Publicado no Eur J Med Genet (2018)

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Por Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly
Publicado em 2014

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Por Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen
Publicado no Nat Commun (2019)

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach

Por Stepensky, Polina, Weintraub, Michael, Yanir, Asaf, Revel-Vilk, Shoshana, Krux, Frank, Huck, Kirsten, Linka, Rene M., Shaag, Avraham, Elpeleg, Orly, Borkhardt, Arndt, Resnick, Igor B.
Publicado em 2011

Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation

Por NaserEddin, Adeeb, Dinur-Schejter, Yael, Shadur, Bella, Zaidman, Irina, Even-Or, Ehud, Averbuch, Diana, Shamriz, Oded, Tal, Yuval, Shaag, Avraham, Warnatz, Klaus, Elpeleg, Orly, Stepensky, Polina
Publicado no J Clin Immunol (2020)