Birth incidence, deaths and hospitalisations of children and young people with Down syndrome, 1990–2015: birth cohort study von Hughes-McCormack, Laura Anne, McGowan, Ruth, Pell, J P, Mackay, Daniel, Henderson, Angela, O'Leary, Lisa, Cooper, Sally-Ann

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Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies von Jacobs, Myrthe, Cooper, Sally-Ann, McGowan, Ruth, Nelson, Scott M, Pell, Jill P

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Diagnostic pitfalls in a young adult with new diabetes von Below, Natalie, Morrison, Deborah, McGowan, Ruth, Jones, Gregory C

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Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease von Simpson, Joanne, Anusas, Joan, Oxnard, Denise, Wright, Sylvia, McGowan, Ruth, Coats, Caroline

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DNA copy number variations are important in the complex genetic architecture of müllerian disorders von McGowan, Ruth, M.B.Ch.B, Tydeman, Graham, B.Sc, Shapiro, David, Ph.D, Craig, Tracey, M.Sc, Morrison, Norma, Ph.D, Logan, Susan, M.D, Balen, Adam H., M.D, Ahmed, S. Faisal, M.D, Deeny, Miriam, B.Sc, Tolmie, John, B.Sc, Tobias, Edward S., Ph.D

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Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study von Norrish, Gabrielle, Kolt, Gali, Cervi, Elena, Field, Ella, Dady, Kathleen, Ziółkowska, Lidia, Olivotto, Iacopo, Favilli, Silvia, Passantino, Silvia, Limongelli, Giuseppe, Caiazza, Martina, Rubino, Marta, Baban, Anwar, Drago, Fabrizio, Mcleod, Karen, Ilina, Maria, McGowan, Ruth, Stuart, Graham, Bhole, Vinay, Uzun, Orhan, Wong, Amos, Lazarou, Laz, Brown, Elspeth, Daubeney, Piers E.F., Lota, Amrit, Delle Donne, Grazia, Linter, Katie, Mathur, Sujeev, Bharucha, Tara, Adwani, Satish, Searle, Jon, Popoiu, Anca, Jones, Caroline B., Reinhardt, Zdenka, Kaski, Juan Pablo

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Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life von Çizmecioğlu, Filiz Mine, Jones, Jeremy Huw, Paterson, Wendy Forsyth, Kherra, Sakina, Kourime, Mariam, McGowan, Ruth, Shaikh, M. Guftar, Donaldson, Malcolm

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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres von Persani, Luca, Cools, Martine, Ioakim, Stamatina, Faisal Ahmed, S, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T, Davies, Justin H, De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H, Hiort, Olaf, Holterhus, Paul-Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella

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Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome von Patterson, Jenny, Coats, Caroline, McGowan, Ruth

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Evidence for 28 genetic disorders discovered by combining healthcare and research data von Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘... von Audí, L, Ahmed, S F, Krone, N, Cools, M, McElreavey, K, Holterhus, P M, Greenfield, A, Bashamboo, A, Hiort, O, Wudy, S A, McGowan, R

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Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades? von McGowan, Ruth, Challoner, Benjamin R., Ross, Sarah, Holloway, Susan, Joss, Shelagh, Wilcox, Douglas, Holden, Simon T., Tolmie, John, Longman, Cheryl

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Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort von Pearson, Madeline, McGowan, Ruth, Greene, Philip, Lam, Wayne, Miedzybrodzka, Zofia, Berg, Jonathan

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data von Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021) von Ahmed, S. Faisal, Achermann, John, Alderson, Julie, Crouch, Naomi S., Elford, Sue, Hughes, Ieuan A., Krone, Nils, McGowan, Ruth, Mushtaq, Talat, O’Toole, Stuart, Perry, Leslie, Rodie, Martina E., Skae, Mars, Turner, Helen E.

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Genetic testing of XY newborns with a suspected disorder of sex development von Alimussina, Malika, Diver, Louise Ann, McGowan, Ruth, Ahmed, Syed Faisal

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Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child von Spentzou, Georgia, McGowan, Ruth, Hares, Dominic, McLeod, Karen

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The contribution of X-linked coding variation to severe developmental disorders von Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder von Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

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A De Novo Loss-of-Function Mutation in KCNJ6 Associated with Idiopathic Ventricular Tachycardia von Potet, Franck, McGowan, Ruth, McLeod, Karen, Jr George, Alfred L.

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