Research Interests

My principal research interest lies in elucidating the genetic basis of congenital hypothyroidism (CH), the commonest neonatal endocrine disorder, due either to failure of thyroid gland development (dysgenesis) or function (dyshormonogenesis). Central hypothyroidism, a rarer entity, is due to impaired thyrotropin (TSH) production by the pituitary gland.

I use candidate gene and whole exome sequencing approaches to identify known and novel genetic causes of CH, focussing on cases which are familial, syndromic, or from a consanguineous background. My aim is to gain new insights into thyroid biology by identifying and characterising genes causing the disorder.

Selected Publications

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, AlMaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee K, Anderson CA, Schoenmakers N. 2016 Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ (2016) J Clin Endocrinol Metab. 2016 Aug 15:jc20161879

Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group. 2016 IGSF1 Deficiency: Lessons from an extensive case series and recommendations for Clinical Management  (2016) J Clin Endocrinol Metab. 101(4):1627-36.

Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N. 2016 A Novel Thyrotropin-Releasing Hormone Missense Mutation (P81R) in Central Congenital Hypothyroidism (2016) J Clin Endocrinol Metab. 101(3):847-51.

Muzza M, Rabbiosi S, Vigone M, Zamproni I, Cirello V, Maffini M, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park SM, Beck-Peccoz P, Persani L, Weber G, Fugazzola L. The Clinical and Molecular Characterization of Patients with Dyshormonogenetic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects. (2014) J Clin Endocrinol Metab. 99: E544-E553. PMID: 24423310

Schoenmakers N*, Moran C*, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geohegan F, Druce M, Beck-Peccoz P, O’Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K. (2014) A novel albumin gene mutation (R222I) in Familial Dysalbuminaemic Hyperthyroxinaemia. J Clin Endocrinol Metab. 99(7):E1381-6

Moran C*, Schoenmakers N*, Agostini M, Schoenmakers E, Offiah A, Kydd A, Kahaly G, Mohr-Kahaly S, Rajanayagam O, Lyons G, Wareham N, Halsall D, Dattani M, Hughes S, Gurnell M, Park S-M, Chatterjee VKK. An adult female with Resistance to Thyroid Hormone mediated by defective thyroid hormone receptor alpha. (2013) J. Clin. Endocrinol. Metab. 98: 4254-4261. PMID: 23940126

Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TME, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JAMJL, Endert E, Hennekam RC, Lombardi MP, Mannens MMAM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg ASP. The IGSF-1 deficiency syndrome: characteristics of male and female patients. J. Clin. Endocrinol. Metab. 2013; 98: 4942-4952. PMID: 24108313

Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, Boelaert K, Cetinkaya S, Tarim O, Bober E, Darendeliler F, Bas V, Demir D, Aydin BK, Kendall M, Cole T, Högler W, Chatterjee VK, Barrett TG, Maher ER. (2013). Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol (Oxf), 79(2):275-81. doi: 10.1111/cen.12127. PMID: 23236987

Bochukova E*, Schoenmakers N*, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe J, Bain M, Lindley K, Muntoni F, Vargha Khadem F, Dattani M, Farooqi S, Gurnell M, Chatterjee K. (2012). A Dominant Negative Mutation in the Thyroid Hormone Receptor Alpha Gene. New England Journal of Medicine, 366:243-249. PMID: 22168587. (* coequal first authors)

Sun Y*, Bak B*, Schoenmakers N*, van Trostsenburg ASP*, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SNM, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TME, Hokken-Koelega ACS, Del Blanco DG, Rangasami JJ, Ruivenkamp CAL, Laros JFJ, Kriek M, Kant SG, Bosch CAJ, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GCJ, Pereira AM, den Dunnen JT, Wade MR, Breuning MH, Hennekam RC, Chatterjee K†, Dattani MT†, Wit JM†, Bernard DJ†. (2012). Loss-of-function mutations in IGSF1 cause a X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics, 44, 1375-1381 (*coequal first authors). PMID: 23143598.

 

(* = joint first authors)