Works by Marafi, Dana

Results: 25

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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