Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. PMID: 32559475.

Korula S, Danda S, Paul PG, Mathai S, Simon A. Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study. J Clin Exp Hepatol. 2020 May-Jun;10(3):222-227. doi: 10.1016/j.jceh.2019.07.007. Epub 2019 Jul 25. PMID: 32405178; PMCID: PMC7212290.

Paul PG, Rebekah G, Korula S, Kumar M, Bondu JD, Palany R, Simon A, Mathai S. Optimizing Cord Blood Thyroid Stimulating Hormone Cutoff for Screening of Congenital Hypothyroidism-Experience from Screening 164,000 Newborns in a Tertiary Hospital in India. Indian J Endocrinol Metab. 2021 Jul-Aug;25(4):348-353. doi: 10.4103/ijem.ijem_220_21. Epub 2021 Dec 15. PMID: 35136744; PMCID: PMC8793950.

Praveen Paul 1, Leena Priyambada 1, Anuja Abraham 2, Babuji Manimegalai 3, Thomas V Paul 4, Sneha Princy 5, Balevendra Antonisamy 5, Nihal Thomas 4, Hilda Yenuberi 2, Jiji E Mathews 2 Follow-up of offspring and mothers with gestational diabetes treated with metformin or glibenclamide: A randomized controlled trial Int J Gynaecol Obstet. 2021 Mar;152(3):446-447 doi: 10.1002/ijgo.13380. Epub 2020 Oct 12.

Korula S, Ravichandran L, Paul PG, Johnson J, Chapla A, Santhanam S, Simon A, Mathai S. Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India. Indian J Endocrinol Metab. 2022 Jan-Feb;26(1):79-86. doi: 10.4103/ijem.ijem_429_21. Epub 2022 Apr 27. PMID: 35662751; PMCID: PMC9162257.

van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181; PMCID: PMC8852204.

Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. PMID: 32559475.

Korula S, Danda S, Paul PG, Mathai S, Simon A. Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study. J Clin Exp Hepatol. 2020 May-Jun;10(3):222-227. doi: 10.1016/j.jceh.2019.07.007. Epub 2019 Jul 25. PMID: 32405178; PMCID: PMC7212290.

Paul PG, Rebekah G, Korula S, Kumar M, Bondu JD, Palany R, Simon A, Mathai S. Optimizing Cord Blood Thyroid Stimulating Hormone Cutoff for Screening of Congenital Hypothyroidism-Experience from Screening 164,000 Newborns in a Tertiary Hospital in India. Indian J Endocrinol Metab. 2021 Jul-Aug;25(4):348-353. doi: 10.4103/ijem.ijem_220_21. Epub 2021 Dec 15. PMID: 35136744; PMCID: PMC8793950.

Praveen Paul 1, Leena Priyambada 1, Anuja Abraham 2, Babuji Manimegalai 3, Thomas V Paul 4, Sneha Princy 5, Balevendra Antonisamy 5, Nihal Thomas 4, Hilda Yenuberi 2, Jiji E Mathews 2 Follow-up of offspring and mothers with gestational diabetes treated with metformin or glibenclamide: A randomized controlled trial Int J Gynaecol Obstet. 2021 Mar;152(3):446-447 doi: 10.1002/ijgo.13380. Epub 2020 Oct 12.

Korula S, Ravichandran L, Paul PG, Johnson J, Chapla A, Santhanam S, Simon A, Mathai S. Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India. Indian J Endocrinol Metab. 2022 Jan-Feb;26(1):79-86. doi: 10.4103/ijem.ijem_429_21. Epub 2022 Apr 27. PMID: 35662751; PMCID: PMC9162257.

van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181; PMCID: PMC8852204.

Korula S, Ravichandran L, Paul PG, Johnson J, Chapla A, Santhanam S, Simon A, Mathai S. Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India. Indian J Endocrinol Metab. 2022 Jan-Feb;26(1):79-86. doi: 10.4103/ijem.ijem_429_21. Epub 2022 Apr 27. PMID: 35662751; PMCID: PMC9162257.

Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, Subramanian GM, Szeifert L, Tonduti D, Turan S, Vanderniet J, van der Walt A, Wémeau JL, van Wermeskerken AM, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Rivadeneira F, Meima ME, Marks DS, Nicola JP, Chen CH, Medici M, Visser WE. Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. PMID: 40075072; PMCID: PMC11904026.