American Journal of Medical Genetics. Part A, 1552-4825
Journal
Publications
- 2020
- E-pub ahead of print
Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review
14 Oct 2020, In: American Journal of Medical Genetics Part A.Research output: Contribution to journal › Article › peer-review
- E-pub ahead of print
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia
9 Aug 2020, In: American Journal of Medical Genetics. Part A.Research output: Contribution to journal › Article › peer-review
- 2018
- E-pub ahead of print
The Characteristics of Temper Outbursts in Prader-Willi Syndrome: Characteristics of PWS outbursts
Kate Woodcock, 5 Oct 2018, In: American Journal of Medical Genetics. Part A. 10 p.Research output: Contribution to journal › Article › peer-review
- 2017
- Published
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature
Grant Stewart, Jun 2017, In: American Journal of Medical Genetics. Part A. 173, 6, p. 1514-1520 7 p.Research output: Contribution to journal › Article › peer-review
- E-pub ahead of print
Phenotypes and genotypes in individuals with SMC1A variants
& 28 others, , 26 May 2017, In: American Journal of Medical Genetics. Part A.Research output: Contribution to journal › Article › peer-review
- E-pub ahead of print
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age
Joanna Moss & Chris Oliver, 19 Apr 2017, In: American Journal of Medical Genetics. Part A.Research output: Contribution to journal › Article › peer-review
- 2016
- Published
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
Emma Webb, Dec 2016, In: American Journal of Medical Genetics. Part A. 170, 12, p. 3150-6Research output: Contribution to journal › Article › peer-review
- Published
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
Caroline M Gorvin, 1 Nov 2016, In: American Journal of Medical Genetics. Part A. 170, 11, p. 2988-2992 5 p.Research output: Contribution to journal › Article › peer-review
- 2015
- Published
The behavioral characteristics of Sotos syndrome
Krupa Sheth, Joanna Moss, Chris Stinton & Chris Oliver, Dec 2015, In: American Journal of Medical Genetics. Part A. 167, 12, p. 2945-2956 12 p.Research output: Contribution to journal › Article › peer-review
- Published
Behavioral characteristics associated with 19p13.2 microdeletions
Alice Welham, Joanna Moss, Krupa Sheth, Lucy Wilde & Chris Oliver, 1 Oct 2015, In: American Journal of Medical Genetics. Part A. 167, 10, p. 2334-2343 10 p.Research output: Contribution to journal › Article › peer-review