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Page 1
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Ritter AL, et al. Am J Med Genet A. 2018 Sep;176(9):1890-1896. doi: 10.1002/ajmg.a.40380. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152016
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. Baker SW, et al. Among authors: skraban cm. J Mol Diagn. 2019 Jan;21(1):38-48. doi: 10.1016/j.jmoldx.2018.07.008. J Mol Diagn. 2019. PMID: 30577886 Free article.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Among authors: skraban cm. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: skraban cm. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
Clinical utility of exome sequencing in infantile heart failure.
Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC. Ritter A, et al. Genet Med. 2020 Feb;22(2):423-426. doi: 10.1038/s41436-019-0654-3. Epub 2019 Sep 17. Genet Med. 2020. PMID: 31527676 Free PMC article.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: skraban cm. Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3. Genet Med. 2020. PMID: 31844176 Free article.
49 results