A case of Aromatase deficiency due to a novel CYP19A1 mutation

por Gagliardi, Lucia, Scott, Hamish S, Feng, Jinghua, Torpy, David J
Publicado 2014

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing’s disease

por De Sousa, Sunita M. C., Manavis, Jim, Feng, Jinghua, Wang, Paul, Schreiber, Andreas W., Scott, Hamish S., Torpy, David J.
Publicado 2020

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms

por Mu, Yafei, Chen, Yuxin, Meng, Yuhuan, Chen, Tao, Fan, Xijie, Yuan, Jiecheng, Lin, Junwei, Pan, Jianhua, Li, Guibin, Feng, Jinghua, Diao, Kaiyuan, Li, Yinghua, Yu, Shihui, Liu, Lingling
Publicado 2023

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

por Venugopal, Parvathy, Gagliardi, Lucia, Forsyth, Cecily, Feng, Jinghua, Phillips, Kerry, Babic, Milena, Poplawski, Nicola K., Rienhoff, Hugh Young, Schreiber, Andreas W., Hahn, Christopher N., Brown, Anna L., Scott, Hamish S.
Publicado 2020

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

por De Angelis, Carla, Byrne, Alicia B., Morrow, Rebecca, Feng, Jinghua, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Schwarz, Quenten, Arts, Peer, Scott, Hamish S., Barnett, Christopher
Publicado 2021

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

por Byrne, Alicia B., Arts, Peer, Polyak, Steven W., Feng, Jinghua, Schreiber, Andreas W., Kassahn, Karin S., Hahn, Christopher N., Mordaunt, Dylan A., Fletcher, Janice M., Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W., Smith, Nicholas J., Scott, Hamish S.
Publicado 2019

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

por Arts, Peer, Garland, Jessica, Byrne, Alicia B., Hardy, Tristan S.E., Babic, Milena, Feng, Jinghua, Wang, Paul, Ha, Thuong, King‐Smith, Sarah L., Schreiber, Andreas W., Crawford, April, Manton, Nick, Moore, Lynette, Barnett, Christopher P., Scott, Hamish S.
Publicado 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

por Byrne, Alicia B, Mizumoto, Shuji, Arts, Peer, Yap, Patrick, Feng, Jinghua, Schreiber, Andreas W, Babic, Milena, King-Smith, Sarah L, Barnett, Christopher P, Moore, Lynette, Sugahara, Kazuyuki, Mutlu-Albayrak, Hatice, Nishimura, Gen, Liebelt, Jan E, Yamada, Shuhei, Savarirayan, Ravi, Scott, Hamish S
Publicado 2020

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas

por De Sousa, Sunita M C, Toubia, John, Hardy, Tristan S E, Feng, Jinghua, Wang, Paul, Schreiber, Andreas W, Geoghegan, Joel, Hall, Rachel, Rawlings, Lesley, Buckland, Michael, Luxford, Catherine, Novos, Talia, Clifton-Bligh, Roderick J, Poplawski, Nicola K, Scott, Hamish S, Torpy, David J
Publicado 2020

Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention

por Shanmuganathan, Naranie, Wadham, Carol, Shahrin, NurHezrin, Feng, Jinghua, Thomson, Daniel, Wang, Paul, Saunders, Verity, Kok, Chung Hoow, King, Rob M., Kenyon, Rosalie R., Lin, Ming, Pagani, Ilaria S., Ross, David M., Yong, Agnes S.M., Grigg, Andrew P., Mills, Anthony K., Schwarer, Anthony P., Braley, Jodi, Altamura, Haley, Yeung, David T., Scott, Hamish S., Schreiber, Andreas W., Hughes, Timothy P., Branford, Susan
Publicado 2023

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations

por Drazer, Michael W., Homan, Claire C., Yu, Kai, Cavalcante de Andrade Silva, Marcela, McNeely, Kelsey E., Pozsgai, Matthew J., Acevedo-Mendez, Maria G., Segal, Jeremy P., Wang, Peng, Feng, Jinghua, King-Smith, Sarah L., Kim, Erika, Korotev, Sophia, Lawrence, David M., Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Sood, Raman, Velloso, Elvira D.R.P., Brown, Anna L., Liu, Paul P., Godley, Lucy A.
Publicado 2022

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

por Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.
Publicado 2023

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

por Homan, Claire C., King-Smith, Sarah L., Lawrence, David M., Arts, Peer, Feng, Jinghua, Andrews, James, Armstrong, Mark, Ha, Thuong, Dobbins, Julia, Drazer, Michael W., Yu, Kai, Bödör, Csaba, Cantor, Alan, Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Fitzgibbon, Jude, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Liu, Paul, Godley, Lucy A., Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Brown, Anna L.
Publicado 2021

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

por Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., Brown, Anna L.
Publicado 2023