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Author/Creator O'Sullivan, James

1. 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. Issue 1 (28th November 2022)

Authors:
Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O'Sullivan, James; Clayton-Smith, Jill
Journal:
Clinical dysmorphology
Issue:
Volume 32:Issue 1(2023)
Page Start:
7
Record Type:
Journal Article
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2. A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. Issue 6 (11th September 2019)

Authors:
Beaman, Glenda M.; Galatà, Gabriella; Teik, Keng W.; Urquhart, Jill E.; Aishah, Ali; O'Sullivan, James; Bhaskar, Sanjeev S.; Wood, Katherine A.; Thomas, Huw B.; O'Keefe, Raymond T.; Woolf, Adrian S.; Stuart, Helen M.; Newman, William G.
Journal:
Clinical genetics
Issue:
Volume 96:Issue 6(2019)
Page Start:
515
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency. Issue 5 (November 2021)

Authors:
Demain, Leigh A.M.; Boetje, Eline; Edgerley, Jonathan J.; Miles, Emma; Fitzgerald, Cheryl T.; Busby, Gail; Beaman, Glenda M.; O'Sullivan, James; O'Keefe, Raymond T.; Newman, William G.
Journal:
Reproductive biomedicine online
Issue:
Volume 43:Issue 5(2021)
Page Start:
899
Record Type:
Journal Article
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8. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. (February 2020)

Authors:
Belot, Alexandre; Rice, Gillian I; Omarjee, Sulliman Ommar; Rouchon, Quentin; Smith, Eve M D; Moreews, Marion; Tusseau, Maud; Frachette, Cécile; Bournhonesque, Raphael; Thielens, Nicole; Gaboriaud, Christine; Rouvet, Isabelle; Chopin, Emilie; Hoshino, Akihiro; Latour, Sylvain; Ranchin, Bruno; Cim...
Journal:
Lancet
Issue:
Volume 2:Number 2(2020)
Page Start:
e99
Record Type:
Journal Article
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9. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. (March 2015)

Authors:
Leslie, Elizabeth J.; O'Sullivan, James; Cunningham, Michael L.; Singh, Ankur; Goudy, Steven L.; Ababneh, Faroug; Alsubaie, Lamia; Ch'ng, Gaik‐Siew; van der Laar, Ingrid M. B. H.; M. Hoogeboom, A. Jeannette; Dunnwald, Martine; Kapoor, Seema; Jiramongkolchai, Pawina; Standley, Jennifer; Manak, J. ...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
545
Record Type:
Journal Article
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