Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
Get full text
Journal Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
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
Published in Nucleic acids research (28.02.2024)
Published in Nucleic acids research (28.02.2024)
Get full text
Journal Article
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Coban Akdemir, Zeynep, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, Sahin, Ibrahim, Yildirim, Timur, Bayhan, Ilhan A., Bursali, Aysegul, Elmas, Muhsin, Yuksel, Zafer, Ozdemir, Ozturk, Silan, Fatma, Yildiz, Onur, Yesilbas, Osman, Isikay, Sedat, Balta, Burhan, Gu, Shen, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Tsiakas, Konstantinos, Hempel, Maja, Girisha, Katta Mohan, Gul, Davut, Posey, Jennifer E., Elcioglu, Nursel H., Tuysuz, Beyhan, Lupski, James R.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
Get full text
Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
Get full text
Journal Article
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
Get full text
Journal Article
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient
Manor, Joshua, Calame, Daniel G, Gijavanekar, Charul, Tran, Alyssa, Fatih, Jawid M, Lalani, Seema R, Mizerik, Elizabeth, Parnes, Mered, Mehta, Vidya P, Adesina, Adekunle M, Lupski, James R, Scaglia, Fernando, Elsea, Sarah H
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
Get full text
Journal Article
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L, Busk, Øyvind L, Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M, Huang, Kevin, Petree, Cassidy, Calame, Daniel G, von der Lippe, Charlotte, Alkuraya, Fowzan S, Wali, Sami, Lupski, James R, Varshney, Gaurav K, Posey, Jennifer E, Pehlivan, Davut
Published in American journal of human genetics (23.10.2024)
Published in American journal of human genetics (23.10.2024)
Get full text
Journal Article
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Dardas, Zain, Marafi, Dana, Duan, Ruizhi, Fatih, Jawid M, El-Rashidy, Omnia F, Grochowski, Christopher M, Carvalho, Claudia M B, Jhangiani, Shalini N, Bi, Weimin, Du, Haowei, Gibbs, Richard A, Posey, Jennifer E, Calame, Daniel G, Zaki, Maha S, Lupski, James R
Published in European journal of human genetics : EJHG (10.09.2024)
Published in European journal of human genetics : EJHG (10.09.2024)
Get full text
Journal Article
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
Get full text
Journal Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
Get full text
Journal Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
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.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
Get full text
Journal Article
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Mitani, Tadahiro, Punetha, Jaya, Akalin, Ibrahim, Pehlivan, Davut, Dawidziuk, Mateusz, Coban Akdemir, Zeynep, Yilmaz, Sarenur, Aslan, Ezgi, Hunter, Jill V., Hijazi, Hadia, Grochowski, Christopher M., Jhangiani, Shalini N., Karaca, Ender, Fatih, Jawid M., Iwanowski, Piotr, Gambin, Tomasz, Wlasienko, Pawel, Goszczanska-Ciuchta, Alicja, Bekiesinska-Figatowska, Monika, Hosseini, Masoumeh, Arzhangi, Sanaz, Najmabadi, Hossein, Rosenfeld, Jill A., Du, Haowei, Marafi, Dana, Blaser, Susan, Teitelbaum, Ronni, Silver, Rachel, Posey, Jennifer E., Ropers, Hans-Hilger, Gibbs, Richard A., Wiszniewski, Wojciech, Lupski, James R., Chitayat, David, Kahrizi, Kimia, Gawlinski, Pawel
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
Get full text
Journal Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Dardas, Zain, Fatih, Jawid M, Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M, Jones, Edward G, Jhangiani, Shalini N, Wehrens, Xander H T, Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Coban-Akdemir, Zeynep, Morris, Shaine A
Published in Genome medicine (03.04.2024)
Published in Genome medicine (03.04.2024)
Get full text
Journal Article
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
Get full text
Journal Article
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C, Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S, Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M, Smaldone, Silvia, Schlesinger, Alan E, Ramírez, Norman, Cornier, Alberto S, Kelly, Melissa A, Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V Reid, Williams, Marc S, Posey, Jennifer E, Gibbs, Richard A, Carlo, Simon, Tegay, David H, Economides, Aris N, Lupski, James R
Published in European journal of human genetics : EJHG (01.09.2020)
Published in European journal of human genetics : EJHG (01.09.2020)
Get full text
Journal Article
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
Calame, Daniel G., Wong, Jovi Huixin, Panda, Puravi, Nguyen, Dat Tuan, Leong, Nancy C.P., Sangermano, Riccardo, Patankar, Sohil G., Abdel-Hamid, Mohamed S., AlAbdi, Lama, Safwat, Sylvia, Flannery, Kyle P., Dardas, Zain, Fatih, Jawid M., Murali, Chaya, Kannan, Varun, Lotze, Timothy E., Herman, Isabella, Ammouri, Farah, Rezich, Brianna, Efthymiou, Stephanie, Alavi, Shahryar, Murphy, David, Firoozfar, Zahra, Nasab, Mahya Ebrahimi, Bahreini, Amir, Ghasemi, Majid, Haridy, Nourelhoda A., Goldouzi, Hamid Reza, Eghbal, Fatemeh, Karimiani, Ehsan Ghayoor, Begtrup, Amber, Elloumi, Houda, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Du, Haowei, Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Marafi, Dana, Rodan, Lance, Isikay, Sedat, Rosenfeld, Jill A., Ramanathan, Subhadra, Staton, Michael, Oberg, Kerby C., Clark, Robin D., Wenman, Catharina, Loughlin, Sam, Saad, Ramy, Ashraf, Tazeen, Male, Alison, Tadros, Shereen, Boostani, Reza, Abdel-Salam, Ghada M.H., Zaki, Maha, Mardi, Ali, Hashemi-Gorji, Farzad, Abdalla, Ebtesam, Manzini, M. Chiara, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Houlden, Henry, Alkuraya, Fowzan S., Bujakowska, Kinga, Maroofian, Reza, Lupski, James R., Nguyen, Long Nam
Published in Genetics in medicine (19.09.2024)
Published in Genetics in medicine (19.09.2024)
Get full text
Journal Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Du, Haowei, Rafat, Karima, Fatih, Jawid M., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep, Gibbs, Richard A., Pehlivan, Davut, Hunter, Jill V., Posey, Jennifer E., Zaki, Maha S., Lupski, James R.
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Journal Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei
Published in Genome medicine (27.10.2022)
Published in Genome medicine (27.10.2022)
Get full text
Journal Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
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.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
Get full text
Journal Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Calame, Daniel G., Herman, Isabella, Maroofian, Reza, Marshall, Aren E., Donis, Karina Carvalho, Fatih, Jawid M., Mitani, Tadahiro, Du, Haowei, Grochowski, Christopher M., Sousa, Sergio B., Gijavanekar, Charul, Bakhtiari, Somayeh, Ito, Yoko A., Rocca, Clarissa, Hunter, Jill V., Sutton, V. Reid, Emrick, Lisa T., Boycott, Kym M., Lossos, Alexander, Fellig, Yakov, Prus, Eugenia, Kalish, Yosef, Meiner, Vardiella, Suerink, Manon, Ruivenkamp, Claudia, Muirhead, Kayla, Saadi, Nebal W., Zaki, Maha S., Bouman, Arjan, Barakat, Tahsin Stefan, Skidmore, David L., Osmond, Matthew, Silva, Thiago Oliveira, Murphy, David, Karimiani, Ehsan Ghayoor, Jamshidi, Yalda, Jaddoa, Asaad Ghanim, Tajsharghi, Homa, Jin, Sheng Chih, Abbaszadegan, Mohammad Reza, Ebrahimzadeh‐Vesal, Reza, Hosseini, Susan, Alavi, Shahryar, Bahreini, Amir, Zarean, Elahe, Salehi, Mohammad Mehdi, Al‐Sannaa, Nouriya Abbas, Zifarelli, Giovanni, Bauer, Peter, Robson, Simon C., Coban‐Akdemir, Zeynep, Travaglini, Lorena, Nicita, Francesco, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Kruer, Michael C., Kernohan, Kristin D., Morales Saute, Jonas A., Houlden, Henry, Vanderver, Adeline, Elsea, Sarah H., Pehlivan, Davut, Marafi, Dana, Lupski, James R.
Published in Annals of neurology (01.08.2022)
Published in Annals of neurology (01.08.2022)
Get full text
Journal Article