Dana Marafi

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 40

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Nucleic acids research

Disease models & mechanisms

This page only lists publications with an associated author ORCID identifier.

Publications

Dana Marafi
Founder mutations and rare disease in the Arab world. Disease models & mechanisms 17 (6) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Dana Marafi
Founder mutations and rare disease in the Arab world. Disease models & mechanisms 17 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Dana Marafi
Founder mutations and rare disease in the Arab world. Disease models & mechanisms 17 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Daniel G Calame, Jennifer E Posey, James R. Lupski, Maha Saad Zaki
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clinical genetics (2023)
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo P Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert V V Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Aslanger Ayça Dilruba, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain : a journal of neurology (2023)
Fatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, Alice Gardham, Emma Wakeling, Harry G Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frederic M Vaz, Aida Maria Bertoli-Avella, Dana Marafi
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. Molecular genetics & genomic medicine (2023)
Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shahid M Baig, Uzma Abdullah, Zafar Ali, Stephanie Efthymiou, David Murphy, Tadahiro Mitani, Marjorie A Withers, Shalini N Jhangiani, Zeynep Coban-Akdemir, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Jennifer E Posey, Henry Houlden, Vladimir V Lupashin, Maha S Zaki, Hudson H Freeze, James R. Lupski
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Journal of inherited metabolic disease (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, null null, Richard A Gibbs, Davut Pehlivan, Jill V Hunter, Jennifer E Posey, Maha Saad Zaki, James R. Lupski
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. American journal of medical genetics. Part A 185 (4) (2021)
Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrahim Hegazy, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American journal of medical genetics. Part A (2021)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Y Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, Dana Marafi, James R. Lupski
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American journal of medical genetics. Part A 185 (7) (2021)
Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R. Lupski, Christina Y Miyake
Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A 185 (8) (2021)
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani, Ziad Khan, Haowei Du, Richard A Gibbs, Jennifer E Posey, Dana Marafi, James R. Lupski
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. American journal of medical genetics. Part A (2021)
Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H Graham, Scott E Hickey, Stephanie Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette Hackenberg, Frances A High, Amy Armstrong-Javors, Niccolò E Mencacci, Paulina Gonzàlez-Latapi, Walaa A Kamel, Jasem Y Al-Hashel, Bernabé I Bustos, Alejandro V Hernandez, Dimitri Krainc, Steven J Lubbe, Hilde Van Esch, Chiara De Luca, Katleen Ballon, Claudia Ravelli, Lydie Burglen, Leila Qebibo, Daniel G Calame, Tadahiro Mitani, Dana Marafi, Davut Pehlivan, Nebal W Saadi, Yavuz Sahin, Reza Maroofian, Stephanie Efthymiou, Henry Houlden, Shazia Maqbool, Fatima Rahman, Shen Gu, Jennifer E Posey, James R Lupski, Jill V Hunter, Michael F Wangler, Christopher J Carroll, Yaping Yang
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of neurology 89 (4) (2021)
Daniel G Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N Jhangiani, Dana Marafi, Richard A Gibbs, Jennifer E Posey, Vidya P Mehta, Carrie A Mohila, Farida Abid, Timothy E Lotze, Davut Pehlivan, Adekunle M Adesina, James R. Lupski
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Annals of clinical and translational neurology 8 (10) (2021)
Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W El-Hattab, Jaishen Rajah, Jawid M Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill Anne Rosenfeld, Shalini N Jhangiani, Eric Boerwinkle, Zeynep C Akdemir, Serkan Erdin, Jill V Hunter, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Annals of clinical and translational neurology 7 (5) (2020)
Isabella Herman, Michael A Lopez, Dana Marafi, Davut Pehlivan, Daniel G Calame, Farida Abid, Timothy E Lotze
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle & nerve 63 (3) (2020)
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E Lamont, Davut Pehlivan, Dana Marafi, Juan Pablo Appendino, Jill V Hunter, Zeynep C Akdemir, Jawid M Fatih, Shalini N Jhangiani, Richard A Gibbs, A Micheil Innes, Jennifer E Posey, James R Lupski
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Annals of clinical and translational neurology 6 (8) (2019)

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Publication Activity (10 Years)

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Dana Marafi