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PreviewIssue DateTitleAuthor(s)
2016Stillbirths: recall to action in high-income countriesFlenady, V.; Wojcieszek, A.; Middleton, P.; Ellwood, D.; Erwich, J.; Coory, M.; Khong, T.; Silver, R.; Smith, G.; Boyle, F.; Lawn, J.; Blencowe, H.; Leisher, S.; Gross, M.; Horey, D.; Farrales, L.; Bloomfield, F.; McCowan, L.; Brown, S.; Joseph, K.; et al.
2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortEggers, S.; Sadedin, S.; van den Bergen, J.; Robevska, G.; Ohnesorg, T.; Hewitt, J.; Lambeth, L.; Bouty, A.; Knarston, I.; Tan, T.; Cameron, F.; Werther, G.; Hutson, J.; O'Connell, M.; Grover, S.; Heloury, Y.; Zacharin, M.; Bergman, P.; Kimber, C.; Brown, J.; et al.
2016The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantKoolen, D.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.; Conta, E.; Fortuna, A.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.; Winesett, H.; Chung, W.; Dalton, M.; Dimova, P.; Mattina, T.; Prescott, K.; Zhang, H.; Saal, H.; Hehir-Kwa, J.; et al.
2016Nifedipine versus atosiban for threatened preterm birth (APOSTEL III): a multicentre, randomised controlled trialVan Vliet, E.; Nijman, T.; Schuit, E.; Heida, K.; Opmeer, B.; Kok, M.; Gyselaers, W.; Porath, M.; Woiski, M.; Bax, C.; Bloemenkamp, K.; Scheepers, H.; Jacquemyn, Y.; Beek, E.; Duvekot, J.; Franssen, M.; Papatsonis, D.; Kok, J.; Van Der Post, J.; Franx, A.; et al.
2016De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformationsReijnders, M.; Zachariadis, V.; Latour, B.; Jolly, L.; Mancini, G.; Pfundt, R.; Wu, K.; Van Ravenswaaij-Arts, C.; Veenstra-Knol, H.; Anderlid, B.; Wood, S.; Cheung, S.; Barnicoat, A.; Probst, F.; Magoulas, P.; Brooks, A.; Malmgren, H.; Harila-Saari, A.; Marcelis, C.; Vreeburg, M.; et al.
2016Dietary interventions in overweight and obese pregnant women: a systematic review of the content, delivery, and outcomes of randomized controlled trialsFlynn, A.; Dalrymple, K.; Barr, S.; Poston, L.; Goff, L.; Rogozińska, E.; Poppel, M.; Rayanagoudar, G.; Yeo, S.; Carballo, R.; Perales, M.; Bogaerts, A.; Cecatti, J.; Dodd, J.; Owens, J.; Devlieger, R.; Teede, H.; Haakstad, L.; Motahari-Tabari, N.; Tonstad, S.; et al.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.; Coe, B.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.; Scheffer, I.; Gecz, J.; et al.