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

af Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Udgivet i 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

af Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Udgivet 2001

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

af Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann
Udgivet i JIMD Rep (2016)

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

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

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

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

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

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

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

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

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

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

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

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

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

af 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.
Udgivet 2011

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

af 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
Udgivet i J Clin Immunol (2020)