Natasha J. Brown

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

IF8.1

2025-02-010

PRE

Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle

澳大利亚第一个以成人为重点的未确诊疾病计划 (aha-udp) 的经验: 解决罕见和令人困惑的遗传疾病是永恒的

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-08-021

OAAI

Wallis, Mathew; Bodek, Simon D.; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F.; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y.; John, Tom; Mullen, Saul; White, Susan M.; Brown, Natasha J.; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S.; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

IF8.1

2024-08-014

PRE

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

IF6.2

2024-05-012

PRE

Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-02-152

OAAI

Szot, Justin O.; Cuny, Hartmut; Martin, Ella M. M. A.; Sheng, Delicia Z.; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M.; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M.; Vincent-Delorme, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S.; Tan, Tiong Y.; Pitt, James; Wise, Cheryl A.; Wright, Helen; Andrews, Israel D.; Pruniski, Brianna; Grebe, Theresa A.; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J.; Hunter, Matthew F.; Heath, Oliver; Lakhani, Saquib A.; McDermott, John H.; Ascher, David B.; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L.

Endophenotyping social cognition in the broader autism phenotype

更广泛的自闭症表型中的内表型社会认知

AUTISM RESEARCH

IF5.6

2023-11-301

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

结节性硬化症的镶嵌性: 降低临床报告的阈值

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

IF3.7

2022-09-0612

OAAI

Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F.; Brown, Natasha J.; Wallis, Mathew; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom; Gardiner, Fiona; Stutterd, Chloe; Duan, Jing; Mullen, Saul A.; McGillivray, George; Bodek, Simon; Valente, Giulia; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N.; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Liao, Jianxiang; Hildebrand, Michael S.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

IF6.2

2022-06-0114

van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

IF8.1

2022-04-0131

OAAI

Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R.

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

IF6.2

2022-01-0157

PRE

Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T.

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

IF3.7

2021-12-1115

Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-11-0515

Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S.; Tan, Natalie B.; Yeung, Alison; Stark, Zornitza; Brown, Natasha J.; McGillivray, George; Delatycki, Martin B.; de Silva, Michelle G.; Downie, Lilian; Stutterd, Chloe A.; Elliott, Justine; Compton, Alison G.; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M.; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G.; Thorburn, David R.; O'Donnell-Luria, Anne H.; Christodoulou, John; White, Susan M.; Tan, Tiong Yang

A family study implicates GBE1 in the etiology of autism spectrum disorder

一项家庭研究表明GBE1与自闭症谱系障碍的病因有关

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

IF3.7

2021-10-212

OAAI

HUMAN MOLECULAR GENETICS

IF3.2

2021-09-099

OAAI

Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane

Genome sequencing in congenital cataracts improves diagnostic yield

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

IF3.7

2021-06-1514

OAAI

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

IF8.1

2021-05-0120

OAAI

Voisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre

在复杂儿科患者的前瞻性与历史队列中进行基因组测序的成本效益分析

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

IF6.2

2020-12-0124

OAAI