Works by Marafi, Dana

Results: 25

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

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

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

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

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

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

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

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

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

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

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 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