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1.

Genomic newborn screening for rare diseases.

Stark, Zornitza; Scott, Richard H.

Nat Rev Genet ; 24(11): 755-766, 2023 Nov.

Article in English | MEDLINE | ID: mdl-37386126

2.

Role of CAMK2D in neurodevelopment and associated conditions.

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M.

Am J Hum Genet ; 111(2): 364-382, 2024 Feb 01.

Article in English | MEDLINE | ID: mdl-38272033

3.

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana.

Am J Hum Genet ; 111(5): 863-876, 2024 May 02.

Article in English | MEDLINE | ID: mdl-38565148

4.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Smallwood, Kelly; Watt, Kristin E N; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P; Begtrup, Amber; Bertola, Debora R; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R; Guillen Sacoto, Maria J; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L; Slavotinek, Anne; Sullivan, Bonnie R; Stark, Zornitza; Symonds, Joseph D; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W; Trainor, Paul A; Weaver, K Nicole.

Am J Hum Genet ; 110(5): 809-825, 2023 05 04.

Article in English | MEDLINE | ID: mdl-37075751

5.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L; Goranitis, Ilias; Spurdle, Amanda B; Hansen, David P; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J; Scott, Hamish S; Thorne, Natalie; Ward, Robyn L; Dinger, Marcel E; Best, Stephanie; Long, Janet C; Grimmond, Sean M; Pearson, John; Waddell, Nicola; Barnett, Christopher P; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J; Lockhart, Paul J; Lunke, Sebastian; Mallett, Andrew J; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E; Semsarian, Christopher; Simons, Cas; Thomas, David M; Thorburn, David R; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael Cj; Mattiske, Tessa.

Am J Hum Genet ; 110(3): 419-426, 2023 03 02.

Article in English | MEDLINE | ID: mdl-36868206

6.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Amarasekera, Sumudu S C; Hock, Daniella H; Lake, Nicole J; Calvo, Sarah E; Grønborg, Sabine W; Krzesinski, Emma I; Amor, David J; Fahey, Michael C; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; Østergaard, Elsebet; Christodoulou, John; Thorburn, David R; Stroud, David A; Compton, Alison G.

Hum Mol Genet ; 32(15): 2441-2454, 2023 07 20.

Article in English | MEDLINE | ID: mdl-37133451

7.

Australian public perspectives on genomic newborn screening: which conditions should be included?

Lynch, Fiona; Best, Stephanie; Gaff, Clara; Downie, Lilian; Archibald, Alison D; Gyngell, Christopher; Goranitis, Ilias; Peters, Riccarda; Savulescu, Julian; Lunke, Sebastian; Stark, Zornitza; Vears, Danya F.

Hum Genomics ; 18(1): 45, 2024 May 08.

Article in English | MEDLINE | ID: mdl-38720401

8.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Del Bigio, Marc R; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D.

Hum Mol Genet ; 31(4): 614-624, 2022 02 21.

Article in English | MEDLINE | ID: mdl-34542157

9.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, Kym M; Geraghty, Michael T; van Klinken, Jan Bert; Ferdinandusse, Sacha; Zhou, Ying; Walsh, Rebecca; Marcellin, Esteban; Thorburn, David R; Rosciolli, Tony; Fletcher, Janice; Rackham, Oliver; Vaz, Frédéric M; Reid, Gavin E; Filipovska, Aleksandra.

Hum Mol Genet ; 31(21): 3597-3612, 2022 10 28.

Article in English | MEDLINE | ID: mdl-35147173

10.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T.

Am J Hum Genet ; 108(9): 1692-1709, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34375587

11.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M.

Am J Hum Genet ; 108(9): 1551-1557, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34329581

12.

Determining priority indicators of utility for genomic testing in rare disease: A Delphi study.

Fehlberg, Zoe; Goranitis, Ilias; Mallett, Andrew J; Stark, Zornitza; Best, Stephanie.

Genet Med ; 26(6): 101116, 2024 Mar 06.

Article in English | MEDLINE | ID: mdl-38459833

13.

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.

Mordaunt, Dylan A; Gonzalez, Francisco Santos; Lunke, Sebastian; Eggers, Stefanie; Sadedin, Simon; Chong, Belinda; Dalziel, Kim; Stark, Zornitza; Goranitis, Ilias.

Genet Med ; 26(4): 101058, 2024 Apr.

Article in English | MEDLINE | ID: mdl-38164890

14.

Gene selection for genomic newborn screening: Moving toward consensus?

Downie, Lilian; Bouffler, Sophie E; Amor, David J; Christodoulou, John; Yeung, Alison; Horton, Ari E; Macciocca, Ivan; Archibald, Alison D; Wall, Meghan; Caruana, Jade; Lunke, Sebastian; Stark, Zornitza.

Genet Med ; 26(5): 101077, 2024 May.

Article in English | MEDLINE | ID: mdl-38275146

15.

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.

Roberts, Angharad M; DiStefano, Marina T; Riggs, Erin Rooney; Josephs, Katherine S; Alkuraya, Fowzan S; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L; McDonagh, Ellen M; Perrett, Daniel; Ramos, Erin M; Robinson, Peter N; Rath, Ana; Sant, David W; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L; Ware, James S.

Genet Med ; 26(2): 101029, 2024 Feb.

Article in English | MEDLINE | ID: mdl-37982373

16.

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

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; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-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.

Genet Med ; 26(5): 101076, 2024 May.

Article in English | MEDLINE | ID: mdl-38258669

17.

Determining the utility of diagnostic genomics: a conceptual framework.

Mallett, Andrew; Stark, Zornitza; Fehlberg, Zoe; Best, Stephanie; Goranitis, Ilias.

Hum Genomics ; 17(1): 75, 2023 08 16.

Article in English | MEDLINE | ID: mdl-37587497

18.

The application of long-read sequencing in clinical settings.

Oehler, Josephine B; Wright, Helen; Stark, Zornitza; Mallett, Andrew J; Schmitz, Ulf.

Hum Genomics ; 17(1): 73, 2023 08 08.

Article in English | MEDLINE | ID: mdl-37553611

19.

Microcosting diagnostic genomic sequencing: A systematic review.

Santos Gonzalez, Francisco; Mordaunt, Dylan; Stark, Zornitza; Dalziel, Kim; Christodoulou, John; Goranitis, Ilias.

Genet Med ; 25(6): 100829, 2023 06.

Article in English | MEDLINE | ID: mdl-36939042

20.

Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.

Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Mallawaarachchi, Amali C; Kerr, Peter G; Alexander, Stephen; Mallett, Andrew J; Goranitis, Ilias.

Genet Med ; 25(11): 100942, 2023 11.

Article in English | MEDLINE | ID: mdl-37489581

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