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  1. Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...]

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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    15 September 2020

    Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten

  16. Bozkurt-Yozgatli, Tugce; Pehlivan, Davut; Gibbs, Richard A.; Sezerman, Ugur; Posey, Jennifer E.; Lupski, James R.; Coban-Akdemir, Zeynep

    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

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    Springer Science and Business Media LLC, 2024

    Published in: BMC Medical Genomics

  17. Ak, Muharrem; Suter, Bernhard; Akturk, Zekeriya; Harris, Holly; Bowyer, Kristina; Mignon, Laurence; Pasupuleti, Sasidhar; Glaze, Daniel G.; Pehlivan, Davut

    Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

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    Wiley, 2022

    Published in: Molecular Genetics & Genomic Medicine

  19. Herman, Isabella; Marafi, Dana; Abdelsalam, Ghada; Mitani, Tadahiro; Calame, Daniel; Akdemir, Zeynep Coban; Pehlivan, Davut; Posey, Jennifer; Lupski, James

    Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101)

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    Ovid Technologies (Wolters Kluwer Health), 2021

    Published in: Neurology

  20. Pehlivan, Davut; Bayram, Yavuz; Akdemir, Zeynep Coban; Fatih, Jawid; Gibbs, Richard; Posey, Jennifer; Elcioglu, Nursel; Tuysuz, Beyhan; Lupski, James

    Exome sequencing reveals novel candidate genes and potential oligogenic inheritance in patients with the complex trait arthrogryposis (P2.4-041)

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Neurology