Search Results - "Fatih, Jawid"

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles by 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.

“…Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However,…”
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data 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

“…Abstract Homozygous duplications contribute to genetic disease by altering gene dosage or disrupting gene regulation and can be more deleterious to organismal…”
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population by 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

“…Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or…”
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance by 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.

“…Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian…”
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode by 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

“…The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central…”
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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient by 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

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 by 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

“…Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female…”
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease by 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.

“…DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes…”
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability by 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

“…The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23…”
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A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy 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.

“…Biallelic loss‐of‐function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal…”
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders by 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

“…Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each…”
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy by 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

“…NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the…”
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions by 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.

“…An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that…”
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide by 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

“…Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico…”
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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant by 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.

“…Alkylated DNA repair protein AlkB homolog 8 (ALKBH8) is a member of the AlkB family of dioxygenases. ALKBH8 is a methyltransferase of the highly variable…”
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum by 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

“…FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1−/− mice exhibit skeletal malformations and…”
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation by 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

“…The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently…”
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses 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.

“…Genomic sequencing and clinical genomics have demonstrated that substantial subsets of atypical and/or severe disease presentations result from multilocus…”
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia by 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.

“…Objective Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is…”
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Risk of sudden cardiac death in EXOSC5‐related disease 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.

“…The RNA exosome is a multi‐subunit complex involved in the processing, degradation, and regulated turnover of RNA. Several subunits are linked to Mendelian…”
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