Works by Roscioli, Tony

Results: 61

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Published in:

Cerebellum, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s12311-018-0969-7

By:

Kang, Ce;
Liang, Christina;
Ahmad, Kate E.;
Gu, Yufan;
Siow, Sue-Faye;
Colebatch, James G.;
Whyte, Scott;
Ng, Karl;
Cremer, Philip D.;
Corbett, Alastair J.;
Davis, Ryan L.;
Roscioli, Tony;
Cowley, Mark J.;
Park, Jin-Sung;
Sue, Carolyn M.;
Kumar, Kishore R.

Publication type:

Article

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203

By:

Thomas‐Wilson, Amanda;
Schacht, John P.;
Chitayat, David;
Blaser, Susan;
Santos, Francis Jeshira Reynoso;
Glaser, Kimberly;
Caffo, Alesky;
Wentzensen, Ingrid M.;
Henderson, Lindsay B.;
Zhang, Futao;
Zhu, Ying;
Di Corleto, Ellen;
da Silva Costa, Fabricio;
Vink, Rebecca;
Alkhunaizi, Ebba;
Russell, Laura;
Buckley, Michael F.;
Roscioli, Tony;
Pereira, Elaine Maria;
Ganapathi, Mythily

Publication type:

Article

Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.

Published in:

2017

By:

Yanes, Tatiane;
Meiser, Bettina;
Young, Mary-Anne;
Kaur, Rajneesh;
Mitchell, Gillian;
Barlow-Stewart, Kristine;
Roscioli, Tony;
Halliday, Jane;
James, Paul

Publication type:

journal article

BCAS3‐Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.

Published in:

Movement Disorders, 2022, v. 37, n. 4, p. 870, doi. 10.1002/mds.28915

By:

Wong, Wui‐Kwan;
Troedson, Christopher;
Damme, Markus;
Goetti, Robert;
Temple, Suzanna E.L.;
Schöls, Ludger;
Balousha, Ghassan;
Prelog, Kristina;
Buckley, Michael;
Roscioli, Tony;
Hengel, Holger;
Mohammad, Shekeeb S.

Publication type:

Article

Analysis of Intracranial Volume in Apert Syndrome Genotypes.

Published in:

Pediatric Neurosurgery, 2004, v. 40, n. 4, p. 161, doi. 10.1159/000081933

By:

Anderson, Peter J.;
Netherway, David J.;
Abbott, Amanda H.;
Cox, Timothy;
Roscioli, Tony;
David, David J.

Publication type:

Article

Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58343-w

By:

Musolf, Anthony M.;
Justice, Cristina M.;
Erdogan-Yildirim, Zeynep;
Goovaerts, Seppe;
Cuellar, Araceli;
Shaffer, John R.;
Marazita, Mary L.;
Claes, Peter;
Weinberg, Seth M.;
Li, Jae;
Senders, Craig;
Zwienenberg, Marike;
Simeonov, Emil;
Kaneva, Radka;
Roscioli, Tony;
Di Pietro, Lorena;
Barba, Marta;
Lattanzi, Wanda;
Cunningham, Michael L.;
Romitti, Paul A.

Publication type:

Article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Published in:

Nature Genetics, 2012, v. 44, n. 12, p. 1360, doi. 10.1038/ng.2463

By:

Justice, Cristina M;
Yagnik, Garima;
Kim, Yoonhee;
Peter, Inga;
Jabs, Ethylin Wang;
Erazo, Monica;
Ye, Xiaoqian;
Ainehsazan, Edmond;
Shi, Lisong;
Cunningham, Michael L;
Kimonis, Virginia;
Roscioli, Tony;
Wall, Steven A;
Wilkie, Andrew O M;
Stoler, Joan;
Richtsmeier, Joan T;
Heuzé, Yann;
Sanchez-Lara, Pedro A;
Buckley, Michael F;
Druschel, Charlotte M

Publication type:

Article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253

By:

Roscioli, Tony;
Kamsteeg, Erik-Jan;
Buysse, Karen;
Maystadt, Isabelle;
van Reeuwijk, Jeroen;
van den Elzen, Christa;
van Beusekom, Ellen;
Riemersma, Moniek;
Pfundt, Rolph;
Vissers, Lisenka E L M;
Schraders, Margit;
Altunoglu, Umut;
Buckley, Michael F;
Brunner, Han G;
Grisart, Bernard;
Zhou, Huiqing;
Veltman, Joris A;
Gilissen, Christian;
Mancini, Grazia M S;
Delrée, Paul

Publication type:

Article

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

Published in:

Nature Genetics, 2006, v. 38, n. 6, p. 620, doi. 10.1038/ng1780

By:

Roscioli, Tony;
Cliffe, Simon T.;
Bloch, Donald B.;
Bell, Christopher G.;
Mullan, Glenda;
Taylor, Peter J.;
Sarris, Maria;
Wang, Joanne;
Donald, Jennifer A.;
Kirk, Edwin P.;
Ziegler, John B.;
Salzer, Ulrich;
McDonald, George B.;
Wong, Melanie;
Lindeman, Robert;
Buckley, Michael F.

Publication type:

Article

Krogh's principle for a new era.

Published in:

2003

By:

Vaingankar, Sucheta;
Toliat, Mohammad R.;
Suk, Anita;
Höhne, Wolfgang;
Schauer, Galen;
Lehmann, Mandy;
Roscioli, Tony;
Schnabel, Dirk;
Epplen, Jörg T.;
Knisley, Alex;
Superti-Furga, Andrea;
McGill, James;
Filippone, Marco;
Sinaiko, Alan R.;
Vallance, Hillary;
Hinrichs, Bernd;
Smith, Wendy

Publication type:

Editorial

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Published in:

Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221

By:

Rutsch, Frank;
Ruf, Nico;
Vaingankar, Sucheta;
Toliat, Mohammed R.;
Suk, Anita;
Höhne, Wolfgang;
Schauer, Galen;
Lehmann, Mandy;
Roscioli, Tony;
Schnabel, Dirk;
Epplen, Jörg T.;
Knisely, Alex;
Superti-Furga, Andrea;
McGill, James;
Filippone, Marco;
Sinaiko, Alan R.;
Vallance, Hillary;
Hinrichs, Bernd;
Smith, Wendy

Publication type:

Article

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Published in:

Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040391

By:

Selvanathan, Arthavan;
Nixon, Cheng Yee;
Ying Zhu;
Scietti, Luigi;
Forneris, Federico;
Uribe, Lina M. Moreno;
Lidral, Andrew C.;
Jezewski, Peter A.;
Mulliken, John B.;
Murray, Jeffrey C.;
Buckley, Michael F.;
Cox, Timothy C.;
Roscioli, Tony

Publication type:

Article

Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 11213, doi. 10.3390/ijms241311213

By:

Mattoteia, Daiana;
Chiapparino, Antonella;
Fumagalli, Marco;
De Marco, Matteo;
De Giorgi, Francesca;
Negro, Lisa;
Pinnola, Alberta;
Faravelli, Silvia;
Roscioli, Tony;
Scietti, Luigi;
Forneris, Federico

Publication type:

Article

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Published in:

Birth Defects Research, 2017, v. 109, n. 1, p. 27, doi. 10.1002/bdra.23596

By:

Liu, Huan;
Busch, Tamara;
Eliason, Steven;
Anand, Deepti;
Bullard, Steven;
Gowans, Lord J.J;
Nidey, Nichole;
Petrin, Aline;
Augustine-Akpan, Eno-Abasi;
Saadi, Irfan;
Dunnwald, Martine;
Lachke, Salil A.;
Zhu, Ying;
Adeyemo, Adebowale;
Amendt, Brad;
Roscioli, Tony;
Cornell, Robert;
Murray, Jeffrey;
Butali, Azeez

Publication type:

Article

Atypical Skin Manifestations in FGFR2 - Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Published in:

Molecular Syndromology, 2018, v. 9, n. 3, p. 149, doi. 10.1159/000488439

By:

LeBlanc, Shannon;
David, David;
Colley, Alison;
Buckley, Michael;
Roscioli, Tony;
Barnett, Christopher

Publication type:

Article

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 265, doi. 10.1007/s10048-016-0495-z

By:

Kumar, Kishore;
Wali, G.M.;
Kamate, Mahesh;
Wali, Gautam;
Minoche, André;
Puttick, Clare;
Pinese, Mark;
Gayevskiy, Velimir;
Dinger, Marcel;
Roscioli, Tony;
Sue, Carolyn;
Cowley, Mark

Publication type:

Article

Seave: a comprehensive web platform for storing and interrogating human genomic variation.

Published in:

Bioinformatics, 2019, v. 35, n. 1, p. 122, doi. 10.1093/bioinformatics/bty540

By:

Gayevskiy, Velimir;
Roscioli, Tony;
Dinger, Marcel E;
Cowley, Mark J

Publication type:

Article

Prioritising the application of genomic medicine.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0037-0

By:

Doble, Brett;
Schofield, Deborah J.;
Roscioli, Tony;
Mattick, John S.

Publication type:

Article

IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability.

Published in:

International Journal of Microsimulation, 2020, v. 13, n. 1, p. 52, doi. 10.34196/ijm.00212

By:

Schofield, Deborah J.;
Tan, Owen;
Shrestha, Rupendra N.;
Rajkumar, Radhika;
West, Sarah;
Rice, Morgan;
Kasparian, Nadine;
Boyle, Jackie;
Christie, Louise;
Leffler, Melanie;
Murray, Lucinda;
Tanton, Robert;
Jinjing Li;
Roscioli, Tony;
Field, Michael

Publication type:

Article

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Published in:

FEBS Letters, 2012, v. 586, n. 10, p. 1516, doi. 10.1016/j.febslet.2012.04.010

By:

Kim, Sun-Don;
Liu, Jia Lie;
Roscioli, Tony;
Buckley, Michael F.;
Yagnik, Garima;
Boyadjiev, Simeon A.;
Kim, Jinoh

Publication type:

Article

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 261, doi. 10.1007/s10545-016-0010-6

By:

Riley, Lisa;
Cowley, Mark;
Gayevskiy, Velimir;
Roscioli, Tony;
Thorburn, David;
Prelog, Kristina;
Bahlo, Melanie;
Sue, Carolyn;
Balasubramaniam, Shanti;
Christodoulou, John

Publication type:

Article

The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.

Published in:

2007

By:

Cliffe, Simon T.;
Wong, Melanie;
Taylor, Peter J.;
Ruga, Ezia;
Wilcken, Bridget;
Lindeman, Robert;
Buckley, Michael F.;
Roscioli, Tony

Publication type:

journal article

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 204, doi. 10.1002/humu.20825

By:

Bochukova, Elena G.;
Roscioli, Tony;
Hedges, Dale J.;
Taylor, Indira B.;
Johnson, David;
David, David J.;
Deininger, Prescott L.;
Wilkie, Andrew O.M.

Publication type:

Article

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.

Published in:

Australasian Journal of Dermatology, 2006, v. 47, n. 4, p. 274, doi. 10.1111/j.1440-0960.2006.00294.x

By:

Varol, Alexandra;
Stapleton, Karen;
Roscioli, Tony

Publication type:

Article

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Published in:

Nature Communications, 2015, v. 6, n. 6, p. 7199, doi. 10.1038/ncomms8199

By:

Tomas-Roca, Laura;
Tsaalbi-Shtylik, Anastasia;
Jansen, Jacob G.;
Singh, Manvendra K.;
Epstein, Jonathan A.;
Altunoglu, Umut;
Verzijl, Harriette;
Soria, Laura;
van Beusekom, Ellen;
Roscioli, Tony;
Iqbal, Zafar;
Gilissen, Christian;
Hoischen, Alexander;
de Brouwer, Arjan P. M.;
Erasmus, Corrie;
Schubert, Dirk;
Brunner, Han;
Pérez Aytés, Antonio;
Marin, Faustino;
Aroca, Pilar

Publication type:

Article

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.

Published in:

Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x

By:

Minoche, Andre E.;
Lundie, Ben;
Peters, Greg B.;
Ohnesorg, Thomas;
Pinese, Mark;
Thomas, David M.;
Zankl, Andreas;
Roscioli, Tony;
Schonrock, Nicole;
Kummerfeld, Sarah;
Burnett, Leslie;
Dinger, Marcel E.;
Cowley, Mark J.

Publication type:

Article

PHENOTYPIC VARIABILITY IN MABRY SYNDROME: EVIDENCE FOR GENETIC HETEROGENEITY.

Published in:

Bulletin du Girso, 2012, v. 51, n. 1, p. e31

By:

Thompson, Miles D.;
Roscioli, Tony;
Nezarati, Marjan M.;
Phillips, John A.;
Krawitz, Peter;
Horn, Denise;
Brunner, Han G.;
Robinson, Peter;
Cole, David E. C.

Publication type:

Article

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 7, p. 604, doi. 10.1007/s10875-015-0194-9

By:

Gray, Paul;
O'Brien, Tracey;
Wagle, Mayura;
Tangye, Stuart;
Palendira, Umaimainthan;
Roscioli, Tony;
Choo, Sharon;
Sutton, Rosemary;
Ziegler, John;
Frith, Katie

Publication type:

Article

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 240, doi. 10.1007/s10897-018-0298-5

By:

Roscioli, Tony;
Josephi‐Taylor, Sarah;
Kirk, Edwin P.;
Barlow‐Stewart, Kristine;
Selvanathan, Arthavan;
Worgan, Lisa;
Rajagopalan, Sulekha;
Colley, Alison;
Bittles, Alan;
Meiser, Bettina

Publication type:

Article

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

Published in:

European Journal of Endocrinology, 2017, v. 176, n. 5, p. 635, doi. 10.1530/EJE-16-0944

By:

De Sousa, Sunita M. C.;
McCabe, Mark J.;
Kathy Wu;
Roscioli, Tony;
Gayevskiy, Velimir;
Brook, Katelyn;
Rawlings, Lesley;
Scott, Hamish S.;
Thompson, Tanya J.;
Earls, Peter;
Gill, Anthony J.;
Cowley, Mark J.;
Dinger, Marcel E.;
McCormack, Ann I.

Publication type:

Article

The Healthcare and Societal Costs of Familial Intellectual Disability.

Published in:

International Journal of Environmental Research & Public Health, 2024, v. 21, n. 3, p. 299, doi. 10.3390/ijerph21030299

By:

Schofield, Deborah;
Shrestha, Rupendra;
Tan, Owen;
Lim, Katherine;
Rajkumar, Radhika;
West, Sarah;
Boyle, Jackie;
Murray, Lucinda;
Leffler, Melanie;
Christie, Louise;
Rice, Morgan;
Hart, Natalie;
Li, Jinjing;
Tanton, Robert;
Roscioli, Tony;
Field, Mike

Publication type:

Article

Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.

Published in:

Familial Cancer, 2019, v. 18, n. 2, p. 147, doi. 10.1007/s10689-018-0104-4

By:

Kaur, Rajneesh;
Meiser, Bettina;
Yanes, Tatiane;
Young, Mary-Anne;
Barlow-Stewart, Kristine;
Roscioli, Tony;
Smith, Sian;
James, Paul A.

Publication type:

Article

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Published in:

Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7

By:

Smits, Daphne J.;
Schot, Rachel;
Popescu, Cristiana A.;
Dias, Kerith-Rae;
Ades, Lesley;
Briere, Lauren C.;
Sweetser, David A.;
Kushima, Itaru;
Aleksic, Branko;
Khan, Suliman;
Karageorgou, Vasiliki;
Ordonez, Natalia;
Sleutels, Frank J. G. T.;
van der Kaay, Daniëlle C. M.;
Van Mol, Christine;
Van Esch, Hilde;
Bertoli-Avella, Aida M.;
Roscioli, Tony;
Mancini, Grazia M. S.

Publication type:

Article

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.

Published in:

Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538

By:

Wong, Wui‐Kwan;
Troedson, Christopher;
Dale, Russell C.;
Roscioli, Tony;
Field, Michael;
Palmer, Elizabeth;
Martin, Ellenore M.;
Kumar, Kishore R.;
Mohammad, Shekeeb S.

Publication type:

Article

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.

Published in:

Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538

By:

Wong, Wui‐Kwan;
Troedson, Christopher;
Dale, Russell C.;
Roscioli, Tony;
Field, Michael;
Palmer, Elizabeth;
Martin, Ellenore M.;
Kumar, Kishore R.;
Mohammad, Shekeeb S.

Publication type:

Article

CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1780, doi. 10.1002/ajmg.a.61601

By:

LeBlanc, Shannon;
Naveen, Dildeepa;
Haan, Eric;
Barnett, Christopher;
Rawlings, Lesley;
Roscioli, Tony;
Poplawski, Nicola

Publication type:

Article

Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2152, doi. 10.1002/ajmg.a.61295

By:

Evans, Carey‐Anne;
Pinner, Jason;
Chan, Cheng Y.;
Bowyer, Lucy;
Mowat, David;
Buckley, Michael F.;
Roscioli, Tony

Publication type:

Article

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200

By:

Ma, Alan;
Gurnasinghani, Sunita;
Kirk, Edwin P.;
McClenaghan, Conor;
Singh, Gautam K.;
Grange, Dorothy K.;
Pandit, Chetan;
Zhu, Yung;
Roscioli, Tony;
Elakis, George;
Buckley, Michael;
Mehta, Bhavesh;
Roberts, Philip;
Mervis, Jonathan;
Biggin, Andrew;
Nichols, Colin G.

Publication type:

Article

Schaaf‐Yang syndrome overview: Report of 78 individuals.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650

By:

McCarthy, John;
Lupo, Philip J.;
Kovar, Erin;
Rech, Megan;
Bostwick, Bret;
Scott, Daryl;
Kraft, Katerina;
Roscioli, Tony;
Charrow, Joel;
Schrier Vergano, Samantha A.;
Lose, Edward;
Smiegel, Robert;
Lacassie, Yves;
Schaaf, Christian P.

Publication type:

Article

KBG syndrome: An Australian experience.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121

By:

Murray, Natalia;
Burgess, Bronwyn;
Hay, Robin;
Colley, Alison;
Rajagopalan, Sulekha;
McGaughran, Julie;
Patel, Chirag;
Enriquez, Annabelle;
Goodwin, Linda;
Stark, Zornitza;
Tan, Tiong;
Wilson, Meredith;
Roscioli, Tony;
Tekin, Mustafa;
Goel, Himanshu

Publication type:

Article

Muenke syndrome: An international multicenter natural history study.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528

By:

Kruszka, Paul;
Addissie, Yonit A.;
Yarnell, Colin M. P.;
Hadley, Donald W.;
Guillen Sacoto, Maria J.;
Platte, Petra;
Paelecke, Yvonne;
Collmann, Hartmut;
Snow, Nicole;
Schweitzer, Tilmann;
Boyadjiev, Simeon A.;
Aravidis, Christos;
Hall, Samantha E.;
Mulliken, John B.;
Roscioli, Tony;
Muenke, Maximilian

Publication type:

Article

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202

By:

Thompson, Miles D.;
Roscioli, Tony;
Marcelis, Carlo;
Nezarati, Marjan M.;
Stolte-Dijkstra, Irene;
Sharom, Frances J.;
Lu, Peihua;
Phillips, John A.;
Sweeney, Elizabeth;
Robinson, Peter N.;
Krawitz, Peter;
Yntema, Helger G.;
Andrade, Danielle M.;
Brunner, Han G.;
Cole, David E.C.

Publication type:

Article

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 233, doi. 10.1002/ajmg.a.33776

By:

Rieubland, Claudine;
Holmes, Anthony D.;
Caramins, Melody;
Roscioli, Tony;
Amor, David J.

Publication type:

Article

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Published in:

2016

By:

Farrar, Michelle A;
Teoh, Hooi Ling;
Brammah, Susan;
Roscioli, Tony;
Cardamone, Michael

Publication type:

Letter

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

Published in:

Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477

By:

Helman, Guy;
Zarekiani, Parand;
Tromp, Samantha A.M.;
Andrews, Ashley;
Botto, Lorenzo D.;
Bonkowsky, Joshua L.;
Chassevent, Anna;
Giorgio, Elisa;
Pippucci, Tommaso;
Wei, Shen;
Smith‐Hicks, Constance;
Vaula, Giovanna;
Willemsen, Michèl A.A.P;
Schimmel, Mareike;
Vollert, Kurt;
Shimizu, Fumitaka;
Kanda, Takashi;
Lynch, Matthew;
Roscioli, Tony;
Taft, Ryan J.

Publication type:

Article

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study.

Published in:

Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 533, doi. 10.1002/gcc.20661

By:

James, Paul A.;
Culling, Bronwyn;
Mullan, Glenda;
Jenkins, Mark;
Elakis, George;
Turner, Anne M.;
Mowat, David M.;
Wilson, Meredith;
Anderson, Peter;
Savarirayan, Ravi;
Cliffe, Simon T.;
Caramins, Melody;
Buckley, Michael F.;
Tucker, Kathy;
Roscioli, Tony

Publication type:

Article

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32056

By:

Forwood, Caitlin;
Ashton, Katie;
Zhu, Ying;
Zhang, Futao;
Dias, Kerith‐Rae;
Standen, Krystle;
Evans, Carey‐Anne;
Carey, Louise;
Cardamone, Michael;
Shalhoub, Carolyn;
Katf, Hala;
Riveros, Carlos;
Hsieh, Tzung‐Chien;
Krawitz, Peter;
Robinson, Peter N;
Dudding‐Byth, Tracy;
Sadikovic, Bekim;
Pinner, Jason;
Buckley, Michael F.;
Roscioli, Tony

Publication type:

Article

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989

By:

Dhombres, Ferdinand;
Morgan, Patricia;
Chaudhari, Bimal P.;
Filges, Isabel;
Sparks, Teresa N.;
Lapunzina, Pablo;
Roscioli, Tony;
Agarwal, Umber;
Aggarwal, Shagun;
Beneteau, Claire;
Cacheiro, Pilar;
Carmody, Leigh C.;
Collardeau‐Frachon, Sophie;
Dempsey, Esther A.;
Dufke, Andreas;
Duyzend, Michael Henri;
el Ghosh, Mirna;
Giordano, Jessica L.;
Glad, Ragnhild;
Grinfelde, Ieva

Publication type:

Article

Genomic approaches for studying craniofacial disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 4, p. 218, doi. 10.1002/ajmg.c.31379

By:

Khandelwal, Kriti D.;
van Bokhoven, Hans;
Roscioli, Tony;
Carels, Carine E.L.;
Zhou, Huiqing

Publication type:

Article

Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1678, doi. 10.1002/pd.6471

By:

Seed, Emma;
Noon, Fallon;
Milnes, Di;
Roscioli, Tony;
Kristensen, Karl;
Ellwood, David;
DaSilva Costa, Fabricio

Publication type:

Article