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- 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
- Joining the hidden revolution in rare diseases: working with family support groupsBrian T Wilson, Jayne HughesArchives of Disease in Childhood Feb 2020, 105 (2) 107-108; DOI: 10.1136/archdischild-2019-317227
- Professionals’ accounts of genetic testing in adoption: a qualitative studyMichael Arribas-Ayllon, Angus Clarke, Katherine SheltonArchives of Disease in Childhood Jan 2020, 105 (1) 74-79; DOI: 10.1136/archdischild-2019-316911
- Thyroid scintigraphy differentiates subtypes of congenital hypothyroidismChris Worth, Beverly Hird, Lesley Tetlow, Neville Wright, Leena Patel, Indraneel BanerjeeArchives of Disease in Childhood Nov 2019, archdischild-2019-317665; DOI: 10.1136/archdischild-2019-317665
- HLA-DQ2/DQ8 typing for non-biopsy diagnosis of coeliac disease: is it necessary?Siba Prosad Paul, Jagrati Chopra, Camelia Laura Vaina, Akshatha Mallikarjuna, Dharamveer BasudeArchives of Disease in Childhood Nov 2019, 104 (11) 1119-1120; DOI: 10.1136/archdischild-2019-317297
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