檢索結果 - Du, Haowei

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome 由 Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.

獲取全文 獲取全文 獲取全文

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome 由 Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

獲取全文 獲取全文 獲取全文

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy 由 Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.

獲取全文 獲取全文 獲取全文

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant 由 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.

獲取全文 獲取全文 獲取全文

A novel homozygous whole-gene deletion of SLC13A5 mediated by Alu-Alu mediated rearrangement in an Iraqi family with epileptic encephalopathy 由 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.

獲取全文 獲取全文 獲取全文

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy 由 Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R

獲取全文 獲取全文 獲取全文

Risk of sudden cardiac death in EXOSC5-related disease 由 Calame, Daniel G., Herman, Isabella, Fatih, Jawid M., Du, Haowei, Tayfun, Gulsen Akay, 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.

獲取全文 獲取全文 獲取全文

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family 由 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

獲取全文 獲取全文 獲取全文

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses 由 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.

獲取全文 獲取全文 獲取全文

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant 由 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.

獲取全文 獲取全文 獲取全文

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy 由 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., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.

獲取全文 獲取全文 獲取全文

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease 由 Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin, Tomasz, Jhangiani, Shalini N., Coban Akdemir, Zeynep, Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A., Shaw, Chad, Jankovic, Joseph, Bi, Weimin, Posey, Jennifer E., Lupski, James R., Shulman, Joshua M.

獲取全文 獲取全文 獲取全文

Breast Tumors Maintain a Reservoir of Subclonal Diversity During Expansion 由 Minussi, Darlan Conterno, Nicholson, Michael D., Ye, Hanghui, Davis, Alexander, Wang, Kaile, Baker, Toby, Tarabichi, Maxime, Sei, Emi, Du, Haowei, Rabbani, Mashiat, Peng, Cheng, Hu, Min, Bai, Shanshan, Lin, Yu-wei, Schalck, Aislyn, Multani, Asha, Ma, Jin, McDonald, Thomas O., Casasent, Anna, Barrera, Angelica, Chen, Hui, Lim, Bora, Arun, Banu, Meric-Bernstam, Funda, Van Loo, Peter, Michor, Franziska, Navin, Nicholas E.

獲取全文 獲取全文 獲取全文

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy 由 Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

獲取全文 獲取全文 獲取全文

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies 由 Chen, Chun-An, Lattier, John, Zhu, Wenmiao, Rosenfeld, Jill, Wang, Lei, Scott, Tiana M., Du, Haowei, Patel, Vipulkumar, Dang, Anh, Magoulas, Pilar, Streff, Haley, Sebastian, Jessica, Svihovec, Shayna, Curry, Kathryn, Delgado, Mauricio R., Hanchard, Neil, Lalani, Seema, Marom, Ronit, Madan-Khetarpal, Suneeta, Saenz, Margarita, Dai, Hongzheng, Meng, Linyan, Xia, Fan, Bi, Weimin, Liu, Pengfei, Posey, Jennifer E., Scott, Daryl A., Lupski, James R., Eng, Christine M., Xiao, Rui, Yuan, Bo

獲取全文 獲取全文 獲取全文

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders 由 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

獲取全文 獲取全文 獲取全文

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities 由 Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo

獲取全文 獲取全文 獲取全文

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population 由 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

獲取全文 獲取全文 獲取全文

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy 由 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, Subhi, Alaa A, Mullegama, Sureni V, Torti, Erin, Sebastin, Monisha, Breilyn, Margo Sheck, Duberstein, Susan, Abdel-Hamid, Mohamed S, Mitani, Tadahiro, Du, Haowei, Rosenfeld, Jill A, Jhangiani, Shalini N, Coban Akdemir, Zeynep, Gibbs, Richard A, Taylor, Jenny C, Fakhro, Khalid A, Hunter, Jill V, Pehlivan, Davut, Zaki, Maha S, Gleeson, Joseph G, Maroofian, Reza, Houlden, Henry, Posey, Jennifer E, Sutton, V Reid, Alkuraya, Fowzan S, Elsea, Sarah H, Lupski, James R

獲取全文 獲取全文 獲取全文

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability 由 Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.

獲取全文 獲取全文 獲取全文