Items where authors include "Johnson, D.S."

Article

Bowen, J.M. orcid.org/0000-0002-3292-2582, Hernandez, M. orcid.org/0000-0003-4474-5883, Johnson, D.S. et al. (9 more authors) (2023) Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield. European Journal of Human Genetics, 31 (7). pp. 749-760. ISSN 1018-4813

Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825

Abbott, B.P., Abbott, R., Abbott, T.D. et al. (1197 more authors) (2020) GW190425: observation of a compact binary coalescence with total mass ∼ 3.4 M⊙. The Astrophysical Journal Letters, 892 (1). L3. ISSN 2041-8205

Abbott, B.P., Abbott, R., Abbott, T.D. et al. (1193 more authors) (2019) Search for gravitational-wave signals associated with gamma-ray bursts during the second observing run of Advanced LIGO and Advanced Virgo. The Astrophysical Journal, 886 (1). 75. ISSN 0004-637X

Abbott, B.P., Abbott, R., Abbott, T.D. et al. (1129 more authors) (2019) Low-latency gravitational-wave alerts for multimessenger astronomy during the second Advanced LIGO and Virgo observing run. The Astrophysical Journal, 875 (2). 161. ISSN 0004-637X

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Johnson, D.S. and DDD Study (2019) MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. European Journal of Medical Genetics, 62 (2). pp. 109-114.

Yates, T.M., Ng, O.-H., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (4 more authors) (2019) Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant. American Journal of Medical Genetics Part A, 179 (1). pp. 43-49. ISSN 1552-4825

Burns, E., Goldstein, A., Hui, C.M. et al. (1158 more authors) (2019) A Fermi gamma-ray burst monitor search for electromagnetic signals coincident with gravitational-wave candidates in Advanced LIGO's first observing run. The Astrophysical Journal, 871 (1). 90. ISSN 0004-637X

Albert, A., André, M., Anghinolfi, M. et al. (1587 more authors) (2019) Search for multimessenger sources of gravitational waves and high-energy neutrinos with Advanced LIGO during its first observing run, ANTARES, and IceCube. The Astrophysical Journal, 870 (2). 134. ISSN 0004-637X

Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075

Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Lord, H., Levesque, S. et al. (14 more authors) (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. ISSN 0022-2593