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

Tekijä Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Julkaisussa 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

Tekijä Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Julkaistu 2001

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

Tekijä Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann
Julkaisussa JIMD Rep (2016)

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

Tekijä Edvardson, Simon , Shaag, Avraham , Kolesnikova, Olga , Gomori, John Moshe , Tarassov, Ivan , Einbinder, Tom , Saada, Ann , Elpeleg, Orly 
Julkaistu 2007

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

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

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

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

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

Tekijä Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann
Julkaisussa Eur J Hum Genet (2015)

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

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

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

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

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

Tekijä Maor-Sagie, Esther, Cinnamon, Yuval, Yaacov, Barak, Shaag, Avraham, Goldsmidt, Hannoch, Zenvirt, Shamir, Laufer, Neri, Richler, Carmelit, Frumkin, Ayala
Julkaisussa J Assist Reprod Genet (2015)

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

Tekijä Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Julkaisussa Eur J Hum Genet (2016)

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

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

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

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

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

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

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

Tekijä Stepensky, Polina, Keller, Baerbel, Abuzaitoun, Omar, Shaag, Avraham, Yaacov, Barak, Unger, Susanne, Seidl, Maximilian, Rizzi, Marta, Weintraub, Michael, Elpeleg, Orly, Warnatz, Klaus
Julkaisussa Haematologica (2015)

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

Tekijä Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar
Julkaisussa Eur J Med Genet (2018)

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

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

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

Tekijä Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen
Julkaisussa Nat Commun (2019)

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

Tekijä 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.
Julkaistu 2011

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

Tekijä 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
Julkaisussa J Clin Immunol (2020)