1. Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Issue 4 (October 2016) Authors: Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; Yau, Shu; Lillis, Suzanne; Hurst, Jane A.; Clement, Emma; Reardon, William; Joss, Shelagh; Hobson, Emma; Blyth, Moira; Al-Shehhi, Maryam; Lynch, Sally A.; Suri, Mohnish Journal: Clinical dysmorphology Issue: Volume 25:Issue 4(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. Issue 12 (1st December 2001) Authors: Reardon, William; Zhou, Xiao-Ping; Eng, Charis Journal: Journal of medical genetics Issue: Volume 38:Issue 12(2001) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. Issue 8 (1st August 1999) Authors: Reardon, William; Coffey, Rebecca; Chowdhury, Tanzina; Grossman, Ashley; Jan, Hikmat; Britton, Keith; Kendall-Taylor, Pat; Trembath, Richard Journal: Journal of medical genetics Issue: Volume 36:Issue 8(1999) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. GP75 Case of a lifetime – how mosaicism may mislead. (June 2019) Authors: Sasaki, Erina; McArdle, Linda; Adamson, Zephra; Hegarty, Ann Marie; Carty, Paula; Betts, David; Reardon, William Journal: Archives of disease in childhood Issue: Volume 104:Supplement 3(2019) Page Start: A60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Issue 2 (9th November 2020) Authors: Tripolszki, Kornelia; Sasaki, Erina; Hotakainen, Ronja; Kassim, Abdul Halim; Pereira, Catarina; Rolfs, Arndt; Bauer, Peter; Reardon, William; Bertoli‐Avella, Aida M. Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. Issue 5 (20th March 2017) Authors: O'Byrne, James J.; Laffan, Eoghan; Murray, Dylan J.; Reardon, William Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding. Issue 1 (January 2016) Authors: Al-Shehhi, Maryam; Betts, David; Mc Ardle, Linda; Donoghue, Veronica; Reardon, William Journal: Clinical dysmorphology Issue: Volume 25:Issue 1(2016:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Essential Medical Genetics. Issue 5 (May 1991) Authors: Reardon, William Journal: Journal of medical genetics Issue: Volume 28:Issue 5(1991) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Issue 1 (1st January 2000) Authors: Reardon, William; Smith, Anne; Honour, John W; Hindmarsh, Peter; Das, Debipriya; Rumsby, Gill; Nelson, Isabelle; Malcolm, Sue; Adès, Lesley; Sillence, David; Kumar, Dhavendra; DeLozier-Blanchet, Celia; McKee, Shane; Kelly, Thaddeus; McKeehan, Wallace L; Baraitser, Michael; Winter, Robin M Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. Issue 3 (1st March 1999) Authors: Papapetrou, Charalambos; Drummond, Felicity; Reardon, William; Winter, Robin; Spitz, Lewis; Edwards, Yvonne H Journal: Journal of medical genetics Issue: Volume 36:Issue 3(1999) Page Start: 208 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗