Klaniewska M,
Bolanowska-Tyszko A,
Latos-Bielenska A,
Jezela-Stanek A,
Szczaluba K,
Krajewska-Walasek M,
Ciara E,
Pelc M,
Jurkiewicz D,
Stawinski P,
Zubkiewicz-Kucharska A,
Rydzanicz M,
Ploski R,
Smigiel R
Mol Genet Genomic Med
2023 Dec;11(12):e2265.
Epub 2023 Sep 1
doi: 10.1002/mgg3.2265.
PMID: 37658610Free PMC Article
Yabumoto M,
Kianmahd J,
Singh M,
Palafox MF,
Wei A,
Elliott K,
Goodloe DH,
Dean SJ,
Gooch C,
Murray BK,
Swartz E,
Schrier Vergano SA,
Towne MC,
Nugent K,
Roeder ER,
Kresge C,
Pletcher BA,
Grand K,
Graham JM Jr,
Gates R,
Gomez-Ospina N,
Ramanathan S,
Clark RD,
Glaser K,
Benke PJ,
Cohen JS,
Fatemi A,
Mu W,
Baranano KW,
Madden JA,
Gubbels CS,
Yu TW,
Agrawal PB,
Chambers MK,
Phornphutkul C,
Pugh JA,
Tauber KA,
Azova S,
Smith JR,
O'Donnell-Luria A,
Medsker H,
Srivastava S,
Krakow D,
Schweitzer DN,
Arboleda VA
Mol Genet Genomic Med
2021 Oct;9(10):e1809.
Epub 2021 Sep 14
doi: 10.1002/mgg3.1809.
PMID: 34519438Free PMC Article
Brea-Fernández A,
Dacruz D,
Eirís J,
Barros F,
Carracedo Á
Am J Med Genet A
2019 Feb;179(2):290-294.
Epub 2018 Dec 20
doi: 10.1002/ajmg.a.60689.
PMID: 30569622
Yabumoto M,
Kianmahd J,
Singh M,
Palafox MF,
Wei A,
Elliott K,
Goodloe DH,
Dean SJ,
Gooch C,
Murray BK,
Swartz E,
Schrier Vergano SA,
Towne MC,
Nugent K,
Roeder ER,
Kresge C,
Pletcher BA,
Grand K,
Graham JM Jr,
Gates R,
Gomez-Ospina N,
Ramanathan S,
Clark RD,
Glaser K,
Benke PJ,
Cohen JS,
Fatemi A,
Mu W,
Baranano KW,
Madden JA,
Gubbels CS,
Yu TW,
Agrawal PB,
Chambers MK,
Phornphutkul C,
Pugh JA,
Tauber KA,
Azova S,
Smith JR,
O'Donnell-Luria A,
Medsker H,
Srivastava S,
Krakow D,
Schweitzer DN,
Arboleda VA
Mol Genet Genomic Med
2021 Oct;9(10):e1809.
Epub 2021 Sep 14
doi: 10.1002/mgg3.1809.
PMID: 34519438Free PMC Article
Marangi G,
Di Giacomo MC,
Lattante S,
Orteschi D,
Patrizi S,
Doronzio PN,
Riviello FN,
Vaisfeld A,
Frangella S,
Zollino M
Am J Med Genet A
2018 Feb;176(2):455-459.
Epub 2017 Dec 11
doi: 10.1002/ajmg.a.38571.
PMID: 29226580
Radvanszky J,
Hyblova M,
Durovcikova D,
Hikkelova M,
Fiedler E,
Kadasi L,
Turna J,
Minarik G,
Szemes T
Clin Genet
2017 Feb;91(2):339-343.
Epub 2016 Sep 29
doi: 10.1111/cge.12840.
PMID: 27452416
Klaniewska M,
Bolanowska-Tyszko A,
Latos-Bielenska A,
Jezela-Stanek A,
Szczaluba K,
Krajewska-Walasek M,
Ciara E,
Pelc M,
Jurkiewicz D,
Stawinski P,
Zubkiewicz-Kucharska A,
Rydzanicz M,
Ploski R,
Smigiel R
Mol Genet Genomic Med
2023 Dec;11(12):e2265.
Epub 2023 Sep 1
doi: 10.1002/mgg3.2265.
PMID: 37658610Free PMC Article
Marangi G,
Di Giacomo MC,
Lattante S,
Orteschi D,
Patrizi S,
Doronzio PN,
Riviello FN,
Vaisfeld A,
Frangella S,
Zollino M
Am J Med Genet A
2018 Feb;176(2):455-459.
Epub 2017 Dec 11
doi: 10.1002/ajmg.a.38571.
PMID: 29226580
Marangi G,
Di Giacomo MC,
Lattante S,
Orteschi D,
Patrizi S,
Doronzio PN,
Riviello FN,
Vaisfeld A,
Frangella S,
Zollino M
Am J Med Genet A
2018 Feb;176(2):455-459.
Epub 2017 Dec 11
doi: 10.1002/ajmg.a.38571.
PMID: 29226580
Bashir RA,
Dixit A,
Goedhart C,
Parboosingh JS,
Innes AM;
Care for Rare Canada Consortium,
Ferreira P,
Hasan SU,
Au PB
Am J Med Genet A
2017 Oct;173(10):2596-2604.
Epub 2017 Jul 11
doi: 10.1002/ajmg.a.38355.
PMID: 28696035