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Author/Creator Sinclair, Andrew H.

1. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46, XY disorders of sex development. Issue 3 (21st January 2020)

Authors:
van den Bergen, Jocelyn A.; Robevska, Gorjana; Eggers, Stefanie; Riedl, Stefan; Grover, Sonia R.; Bergman, Philip B.; Kimber, Chris; Jiwane, Ashish; Khan, Sophy; Krausz, Csilla; Raza, Jamal; Atta, Irum; Davis, Susan R.; Ono, Makato; Harley, Vincent; Faradz, Sultana M. H.; Sinclair, Andrew H.; Aye...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 3(2020)
Page Start:
n/a
Record Type:
Journal Article
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4. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Issue 10 (29th July 2022)

Authors:
Tucker, Elena J.; Gutfreund, Niklas; Belaud‐Rotureau, Marc‐Antoine; Gilot, David; Brun, Tiffany; Kline, Brianna L.; Bell, Katrina M.; Domin‐Bernhard, Mathilde; Théard, Camille; Touraine, Philippe; Robevska, Gorjana; van van den Bergen, Jocelyn; Ayers, Katie L.; Sinclair, Andrew H.; Dötsch, Volker...
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1443
Record Type:
Journal Article
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5. FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination. Issue 3 (28th November 2022)

Authors:
Croft, Brittany; Bird, Anthony D.; Ono, Makoto; Eggers, Stefanie; Bagheri‐Fam, Stefan; Ryan, Janelle M.; Reyes, Alejandra P.; van den Bergen, Jocelyn; Baxendale, Anne; Thompson, Elizabeth M.; Kueh, Andrew J.; Stanton, Peter; Thomas, Tim; Sinclair, Andrew H.; Harley, Vincent R.
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
277
Record Type:
Journal Article
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6. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Issue 1 (2nd November 2017)

Authors:
Robevska, Gorjana; van den Bergen, Jocelyn A.; Ohnesorg, Thomas; Eggers, Stefanie; Hanna, Chloe; Hersmus, Remko; Thompson, Elizabeth M.; Baxendale, Anne; Verge, Charles F.; Lafferty, Antony R.; Marzuki, Nanis S.; Santosa, Ardy; Listyasari, Nurin A.; Riedl, Stefan; Warne, Garry; Looijenga, Leender...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
124
Record Type:
Journal Article
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7. Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. Issue 2 (7th February 2021)

Authors:
Listyasari, Nurin A.; Robevska, Gorjana; Santosa, Ardy; Bouty, Aurore; Juniarto, AZ; van den Bergen, Jocelyn; Ayers, Katie L.; Sinclair, Andrew H.; Faradz, Sultana MH
Journal:
Journal of investigative surgery
Issue:
Volume 34:Issue 2(2021)
Page Start:
227
Record Type:
Journal Article
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8. Mutant NR5A1/SF‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. Issue 12 (22nd August 2018)

Authors:
Sreenivasan, Rajini; Ludbrook, Louisa; Fisher, Brett; Declosmenil, Faustine; Knower, Kevin C.; Croft, Brittany; Bird, Anthony D.; Ryan, Janelle; Bashamboo, Anu; Sinclair, Andrew H.; Koopman, Peter; McElreavey, Ken; Poulat, Francis; Harley, Vincent R.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1861
Record Type:
Journal Article
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9. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. (November 2020)

Authors:
Jaillard, Sylvie; Bell, Katrina; Akloul, Linda; Walton, Kelly; McElreavy, Kenneth; Stocker, William A.; Beaumont, Marion; Harrisson, Craig; Jääskeläinen, Tiina; Palvimo, Jorma J.; Robevska, Gorjana; Launay, Erika; Satié, Anne-Pascale; Listyasari, Nurin; Bendavid, Claude; Sreenivasan, Rajini; Duro...
Journal:
Maturitas
Issue:
Volume 141(2020)
Page Start:
9
Record Type:
Journal Article
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10. NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46, XX disorders of sex development patients. Issue 2 (30th November 2018)

Authors:
Knarston, Ingrid M.; Robevska, Gorjana; van den Bergen, Jocelyn A; Eggers, Stefanie; Croft, Brittany; Yates, Jason; Hersmus, Remko; Looijenga, Leendert H. J.; Cameron, Fergus J.; Monhike, Klaus; Ayers, Katie L.; Sinclair, Andrew H.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
207
Record Type:
Journal Article
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