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- Genetic testing in patients with possible foetal alcohol spectrum disorderZena Lam, Kathryn Johnson, Rosalyn JewellArchives of Disease in Childhood Nov 2020, archdischild-2020-319572; DOI: 10.1136/archdischild-2020-319572
- ‘Next Generation Sequencing’ as a diagnostic tool in paediatricsDiana Baralle, Vardha IsmailArchives of Disease in Childhood Oct 2020, archdischild-2020-320251; DOI: 10.1136/archdischild-2020-320251
- Unexpected ventricular tachycardia following acoustic provocation during electroencephalographyHannes Sallmon, Sven C Weber, Felix Berger, Joachim C WillArchives of Disease in Childhood Oct 2020, archdischild-2020-320420; DOI: 10.1136/archdischild-2020-320420
- Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypesHeming Wei, Angeline Lai, Ee Shien Tan, Mark Jean Aan Koh, Ivy Ng, Teck Wah Ting, Terrence Thomas, Breana Cham, Jiin Ying Lim, Sylvia Kam, Chew Yin Jasmine Goh, Grace Lin, Maggie Brett, Derrick Chan, Saumya Shekhar Jamuar, Ene-Choo TanArchives of Disease in Childhood Sep 2020, archdischild-2020-319177; DOI: 10.1136/archdischild-2020-319177
- Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?Katrina Andrews, Matina Prapa, Elizabeth Radford, Ingrid Simonic, Simon Holden, Gusztav BeltekiArchives of Disease in Childhood Oct 2020, 105 (10) 1021-1022; DOI: 10.1136/archdischild-2019-317966
- Achondroplasia Foramen Magnum Score: screening infants for stenosisMoira S Cheung, Melita Irving, Alessandra Cocca, Rui Santos, Meera Shaunak, Harry Dougherty, Ata Siddiqui, Paul Gringras, Dominic ThompsonArchives of Disease in Childhood Sep 2020, archdischild-2020-319625; DOI: 10.1136/archdischild-2020-319625
- Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementNeha S Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin, Celia Bosso-Lefevre, Perumal Dharuman, Nathalie Escande-Beillard, Arun George Devasia, Chew Yin Jasmine Goh, Sylvia Kam, Wendy Kein-Meng Liew, Woei Kang Liew, Grace Lin, Kanika Jain, Alvin Yu-Jin Ng, Deepa Subramanian, Min Xie, Yuen-Ming Tan, Nilesh R Tawari, Zenia Tiang, Teck Wah Ting, Sumanty Tohari, Cheuk Ka Tong, Alexander Lezhava, Sarah B Ng, Hai Yang Law, Byrappa Venkatesh, Swati Tomar, Raman Sethi, Grace Tan, Arthi Shanmugasundaram, Denise Li-Meng Goh, Poh San Lai, Angeline Lai, Ee Shien Tan, Ivy Ng, Bruno Reversades, Ene Choo Tan, Roger Foo, Saumya Shekhar JamuarArchives of Disease in Childhood Aug 2020, archdischild-2020-319180; DOI: 10.1136/archdischild-2020-319180
- Decision to reject screening for familial hypercholesterolaemia is flawedDavid S Wald, Andrew C MartinArchives of Disease in Childhood Jun 2020, archdischild-2020-319168; DOI: 10.1136/archdischild-2020-319168
- Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infantGerarda Mastrogiorgio, Paola Sabrina Buonuomo, Ippolita Rana, Marina Macchiaiolo, Paola Marchetti, Francesco De Peppo, Martina Rinelli, Michaela Veronika Gonfiantini, Antonio Novelli, Andrea BartuliArchives of Disease in Childhood Jun 2020, archdischild-2020-319229; DOI: 10.1136/archdischild-2020-319229
- Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, Charulata Deshpande, Pradeep Vasudevan, Ingrid Scurr, John Dean, Nora Shannon, Jonathon Berg, Susan Holder, Diana Baralle, Jill Clayton-SmithArchives of Disease in Childhood Apr 2020, 105 (4) 384-389; DOI: 10.1136/archdischild-2018-316547
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