Found: 25

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  • Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 620, doi. 10.1111/cge.14492
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • Zaki, Maha S.;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Saadi, Nebal Waill;
    • Filimban, Bilal;
    • Dafsari, Hormos Salimi;
    • Rahman, Fatima;
    • Maqbool, Shazia;
    • Faqeih, Eissa;
    • Al Mutairi, Fuad;
    • Alsharhan, Hind;
    • Abdelaty, Omar;
    • Bin‐Hasan, Saadoun;
    • Duan, Ruizhi;
    • Noureldeen, Mahmoud M.;
    • Alqattan, Alaa;
    • Houlden, Henry;
    • Hunter, Jill V.
    Publication type:
    Article

  • Clinical and molecular characterization of patients with YWHAG‐related epilepsy.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939
    By:
    • Cetica, Valentina;
    • Pisano, Tiziana;
    • Lesca, Gaetan;
    • Marafi, Dana;
    • Licchetta, Laura;
    • Riccardi, Florence;
    • Mei, Davide;
    • Chung, Hon‐yin B.;
    • Bayat, Allan;
    • Balasubramanian, Meena;
    • Lowenstein, Daniel H.;
    • Endzinienė, Milda;
    • Alotaibi, Maha;
    • Villeneuve, Nathalie;
    • Jacobs, Julia;
    • Isidor, Bertrand;
    • Solazzi, Roberta;
    • den Hollander, Nicolette S.;
    • Marjanovic, Dragan;
    • Rougeot‐Jung, Christelle
    Publication type:
    Article

  • HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

    Published in:
    Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
    By:
    • Du, Haowei;
    • Dardas, Zain;
    • Jolly, Angad;
    • Grochowski, Christopher M;
    • Jhangiani, Shalini N;
    • Li, He;
    • Muzny, Donna;
    • Fatih, Jawid M;
    • Yesil, Gozde;
    • Elçioglu, Nursel H;
    • Gezdirici, Alper;
    • Marafi, Dana;
    • Pehlivan, Davut;
    • Calame, Daniel G;
    • Carvalho, Claudia M B;
    • Posey, Jennifer E;
    • Gambin, Tomasz;
    • Coban-Akdemir, Zeynep;
    • Lupski, James R
    Publication type:
    Article

  • Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article

  • Human 'knockouts' of CSF3 display severe congenital neutropenia.

    Published in:
    British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
    By:
    • Khouj, Ebtissal;
    • Marafi, Dana;
    • Aljamal, Bayan;
    • Hajiya, Anwar;
    • Elshafie, Reem M.;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Aboelanine, Ashraf H.;
    • Awaji, Ali;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
    By:
    • Duan, Ruizhi;
    • Marafi, Dana;
    • Xia, Zhi‐Jie;
    • Ng, Bobby G.;
    • Maroofian, Reza;
    • Sumya, Farhana Taher;
    • Saad, Ahmed K.;
    • Du, Haowei;
    • Fatih, Jawid M.;
    • Hunter, Jill V.;
    • Elbendary, Hasnaa M.;
    • Baig, Shahid M.;
    • Abdullah, Uzma;
    • Ali, Zafar;
    • Efthymiou, Stephanie;
    • Murphy, David;
    • Mitani, Tadahiro;
    • Withers, Marjorie A.;
    • Jhangiani, Shalini N.;
    • Coban‐Akdemir, Zeynep
    Publication type:
    Article

  • Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02888-y
    By:
    • Aburezq, Maryam;
    • Alahmad, Ahmad;
    • Alsafi, Rasha;
    • Al-Tawari, Asma;
    • Ramadan, Dina;
    • Shafik, Magdy;
    • Abdelaty, Omar;
    • Makhseed, Nawal;
    • Elshafie, Reem;
    • Ayed, Mariam;
    • Hayat, Abrar;
    • Dashti, Fatima;
    • Marafi, Dana;
    • Albash, Buthaina;
    • Bastaki, Laila;
    • Alsharhan, Hind
    Publication type:
    Article

  • Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348
    By:
    • Elbendary, Hasnaa M.;
    • Marafi, Dana;
    • Saad, Ahmed K.;
    • Elhossini, Rasha;
    • Duan, Ruizhi;
    • Rafat, Karima;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Calame, Daniel G.;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Zaki, Maha S.
    Publication type:
    Article

  • SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
    By:
    • Smits, Daphne J;
    • Schot, Rachel;
    • Krusy, Nathalie;
    • Wiegmann, Katja;
    • Utermöhlen, Olaf;
    • Mulder, Monique T;
    • Hoedt, Sandra den;
    • Yoon, Grace;
    • Deshwar, Ashish R;
    • Kresge, Christina;
    • Pletcher, Beth;
    • Mook, Maura van;
    • Ferreira, Marta Serio;
    • Poot, Raymond A;
    • Slotman, Johan A;
    • Kremers, Gert-Jan;
    • Ahmad, Abeer;
    • Albash, Buthaina;
    • Bastaki, Laila;
    • Marafi, Dana
    Publication type:
    Article

  • A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
    By:
    • Dawood, Moez;
    • Akay, Gulsen;
    • Mitani, Tadahiro;
    • Marafi, Dana;
    • Fatih, Jawid M.;
    • Gezdirici, Alper;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Du, Haowei;
    • Jolly, Angad;
    • Li, He;
    • Coban‐Akdemir, Zeynep;
    • Sedlazeck, Fritz J.;
    • Hunter, Jill V.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna;
    • Pehlivan, Davut;
    • Posey, Jennifer E.
    Publication type:
    Article

  • WIPI proteins: Biological functions and related syndromes.

    Published in:
    Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.1011918
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • El-Hattab, Ayman W.
    Publication type:
    Article

  • De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
    By:
    • Penon‐Portmann, Monica;
    • Eldomery, Mohammad K.;
    • Potocki, Lorraine;
    • Marafi, Dana;
    • Posey, Jennifer E.;
    • Coban‐Akdemir, Zeynep;
    • Harel, Tamar;
    • Grochowski, Christopher M.;
    • Loucks, Hailey;
    • Devine, Walter Patrick;
    • Van Ziffle, Jessica;
    • Doherty, Dan;
    • Lupski, James R.;
    • Shieh, Joseph T.
    Publication type:
    Article

  • Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
    By:
    • Taşdelen, Elifcan;
    • Calame, Daniel G.;
    • Akay, Gulsen;
    • Mitani, Tadahiro;
    • Fatih, Jawid M.;
    • Herman, Isabella;
    • Du, Haowei;
    • Coban‐Akdemir, Zeynep;
    • Marafi, Dana;
    • Jhangiani, Shalini N.;
    • Posey, Jennifer E.;
    • Gibbs, Richard A.;
    • Altıparmak, Taylan;
    • Kutlay, Nüket Yürür;
    • Lupski, James R.;
    • Pehlivan, Davut
    Publication type:
    Article

  • El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 5/6, p. 530, doi. 10.1111/cge.14132
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • Abdel-Salam, Ghada M. H.;
    • Zaki, Maha S.;
    • Duan, Ruizhi;
    • Calame, Daniel;
    • Herman, Isabella;
    • Levesque, Felix;
    • Elbendary, Hasnaa M.;
    • Hegazy, Ibrahim;
    • Chung, Wendy K.;
    • Kavus, Haluk;
    • Saeidi, Kolsoum;
    • Maroofian, Reza;
    • AlHashim, Aqeela;
    • Al-Otaibi, Ali;
    • Madhi, Asma Al;
    • Abou Al-Seood, Hager M.;
    • Alasmari, Ali;
    • Houlden, Henry
    Publication type:
    Article

  • Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
    By:
    • Herman, Isabella;
    • Jolly, Angad;
    • Du, Haowei;
    • Dawood, Moez;
    • Abdel‐Salam, Ghada M. H.;
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Calame, Daniel G.;
    • Coban‐Akdemir, Zeynep;
    • Fatih, Jawid M.;
    • Hegazy, Ibrahim;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article

  • Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

    Published in:
    2022
    By:
    • Marafi, Dana;
    • Fatih, Jawid M;
    • Kaiyrzhanov, Rauan;
    • Ferla, Matteo P;
    • Gijavanekar, Charul;
    • Al-Maraghi, Aljazi;
    • Liu, Ning;
    • Sites, Emily;
    • Alsaif, Hessa S;
    • Al-Owain, Mohammad;
    • Zakkariah, Mohamed;
    • El-Anany, Ehab;
    • Guliyeva, Ulviyya;
    • Guliyeva, Sughra;
    • Gaba, Colette;
    • Haseeb, Ateeq;
    • Alhashem, Amal M;
    • Danish, Enam;
    • Karageorgou, Vasiliki;
    • Beetz, Christian
    Publication type:
    journal article

  • Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
    By:
    • Abdel‐Salam, Ghada M. H.;
    • Duan, Ruizhi;
    • Abdel‐Hamid, Mohamed S.;
    • Sayed, Inas S. M.;
    • Jhangiani, Shalini N.;
    • Khan, Ziad;
    • Du, Haowei;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Lupski, James R.
    Publication type:
    Article

  • Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
    By:
    • Calame, Daniel G.;
    • Fatih, Jawid M.;
    • Herman, Isabella;
    • Coban‐Akdemir, Zeynep;
    • Du, Haowei;
    • Mitani, Tadahiro;
    • Jhangiani, Shalini N.;
    • Marafi, Dana;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Mehta, Vidya P.;
    • Mohila, Carrie A.;
    • Abid, Farida;
    • Lotze, Timothy E.;
    • Pehlivan, Davut;
    • Adesina, Adekunle M.;
    • Lupski, James R.
    Publication type:
    Article

  • Risk of sudden cardiac death in EXOSC5‐related disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
    By:
    • Calame, Daniel G.;
    • Herman, Isabella;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Akay, Gulsen;
    • Jhangiani, Shalini N.;
    • Coban‐Akdemir, Zeynep;
    • Milewicz, Dianna M.;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Hunter, Jill V.;
    • Fan, Yuxin;
    • Lupski, James R.;
    • Miyake, Christina Y.
    Publication type:
    Article

  • A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
    By:
    • Duan, Ruizhi;
    • Saadi, Nebal Waill;
    • Grochowski, Christopher M.;
    • Bhadila, Ghalia;
    • Faridoun, Afnan;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Akdemir, Zeynep C.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Lupski, James R.
    Publication type:
    Article

  • Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
    By:
    • Efthymiou, Stephanie;
    • Herman, Isabella;
    • Rahman, Fatima;
    • Anwar, Najwa;
    • Maroofian, Reza;
    • Yip, Janice;
    • Mitani, Tadahiro;
    • Calame, Daniel G.;
    • Hunter, Jill V.;
    • Sutton, V. Reid;
    • Gulec, Elif;
    • Duan, Ruizhi;
    • Fatih, Jawid M.;
    • Marafi, Dana;
    • Pehlivan, Davut;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Maqbool, Shazia;
    • Lupski, James R.
    Publication type:
    Article

  • Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.

    Published in:
    Muscle & Nerve, 2021, v. 63, n. 3, p. 304, doi. 10.1002/mus.27112
    By:
    • Herman, Isabella;
    • Lopez, Michael A.;
    • Marafi, Dana;
    • Pehlivan, Davut;
    • Calame, Daniel G.;
    • Abid, Farida;
    • Lotze, Timothy E.
    Publication type:
    Article

  • Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

    Published in:
    2020
    By:
    • Saad, Ahmed K;
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Jolly, Angad;
    • Du, Haowei;
    • Elbendary, Hasnaa M;
    • Jhangiani, Shalini N;
    • Akdemir, Zeynep C;
    • Genomics, Baylor-Hopkins Center for Mendelian;
    • Gibbs, Richard A;
    • Hunter, Jill V;
    • Carvalho, Claudia M B C;
    • Pehlivan, Davut;
    • Posey, Jennifer E;
    • Zaki, Maha S;
    • Lupski, James R;
    • Baylor-Hopkins Center for Mendelian Genomics
    Publication type:
    letter

  • Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
    By:
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Isikay, Sedat;
    • Hertecant, Jozef;
    • Almannai, Mohammed;
    • Manickam, Kandamurugu;
    • Abou Jamra, Rami;
    • El‐Hattab, Ayman W.;
    • Rajah, Jaishen;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Punetha, Jaya;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Boerwinkle, Eric;
    • Akdemir, Zeynep C.;
    • Erdin, Serkan;
    • Hunter, Jill V.
    Publication type:
    Article

  • Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
    By:
    • Punetha, Jaya;
    • Karaca, Ender;
    • Gezdirici, Alper;
    • Lamont, Ryan E.;
    • Pehlivan, Davut;
    • Marafi, Dana;
    • Appendino, Juan P.;
    • Hunter, Jill V.;
    • Akdemir, Zeynep C.;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Innes, A. Micheil;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article