Pediatric Neuroendocrinology Group

  1. Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. 2022. Cross-sectional neuromuscular phenotyping study of patients with arhinia with SMCHD1 variants. Neurology. 98(13):e1384-e1396. doi:10.1212/WNL.0000000000200032. [Abstract Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. 2022. Cross-sectional neuromuscular phenotyping study of patients with arhinia with SMCHD1 variants. Neurology. 98(13):e1384-e1396. doi:10.1212/WNL.0000000000200032.]
  2. Calvert ME, Kalra B, Patel A, Kumar A, Shaw ND. Serum and urine profiles of TGF-β superfamily members in reproductive aged women. Clin Chim Acta. 2022;524:96-100. doi:10.1016/j.cca.2021.12.002 [Abstract Calvert ME, Kalra B, Patel A, Kumar A, Shaw ND. Serum and urine profiles of TGF-β superfamily members in reproductive aged women. Clin Chim Acta. 2022;524:96-100. doi:10.1016/j.cca.2021.12.002]
  3. Lucien JN, Ortega MT, Shaw ND. Sleep and puberty. Curr Opin Endocr Metab Res. 2021;17:1-7. doi:10.1016/j.coemr.2020.09.009 [Abstract Lucien JN, Ortega MT, Shaw ND. Sleep and puberty. Curr Opin Endocr Metab Res. 2021;17:1-7. doi:10.1016/j.coemr.2020.09.009]
  4. Ortega MT, McGrath JA, Carlson L, Flores Poccia V, Larson G, Douglas C, Sun BZ, Zhao S, Beery B, Vesper HW, Duke L, Botelho JC, Filie AC, Shaw ND. 2021. Longitudinal investigation of pubertal milestones and hormones as a function of body fat in girls. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgab092 [Online 25 February 2021]. [Abstract Ortega MT, McGrath JA, Carlson L, Flores Poccia V, Larson G, Douglas C, Sun BZ, Zhao S, Beery B, Vesper HW, Duke L, Botelho JC, Filie AC, Shaw ND. 2021. Longitudinal investigation of pubertal milestones and hormones as a function of body fat in girls. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgab092 [Online 25 February 2021].] 
  5. Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE. 2020. Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women with Hypothalamic Amenorrhea. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgaa609 [Online 1 September 2020]. [Abstract Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE. 2020. Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women with Hypothalamic Amenorrhea. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgaa609 [Online 1 September 2020].]
  6. Burkholder A, Akrobetu D, Pandiri AR, Ton K, Kim S, Labow BI, Nuzzi LC, Firriolo JM, Schneider SS, Fenton SE, Shaw ND. 2020. Investigation of the adolescent female breast transcriptome and the impact of obesity. Breast Cancer Res 22(1):44. [Abstract Burkholder A, Akrobetu D, Pandiri AR, Ton K, Kim S, Labow BI, Nuzzi LC, Firriolo JM, Schneider SS, Fenton SE, Shaw ND. 2020. Investigation of the adolescent female breast transcriptome and the impact of obesity. Breast Cancer Res 22(1):44.]
  7. Ortega MT, Carlson L, McGrath JA, Kangarloo T, Adams JM, Sluss PM, Lambert-Messerlian G, Shaw ND. 2020. AMH is Higher Across the Menstrual Cycle in Early Postmenarchal Girls than in Ovulatory Women. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgaa059 [Online 1 April 2020]. [Abstract Ortega MT, Carlson L, McGrath JA, Kangarloo T, Adams JM, Sluss PM, Lambert-Messerlian G, Shaw ND. 2020. AMH is Higher Across the Menstrual Cycle in Early Postmenarchal Girls than in Ovulatory Women. J Clin Endocrinol Metab; doi: 10.1210/clinem/dgaa059 [Online 1 April 2020].]
  8. Carlson L, Flores V, Sun BZ, Mosley B, Kirste I, Rice A, Sridhar R, Kangarloo T, Vesper HW, Duke L, Botelho JC, Termeulen DC, Adams JM, Filie AC, Shaw ND. 2019. Early breast development in overweight girls: does estrogen made by adipose tissue play a role? Int J Obes (Lond); doi: 10.1038/s41366-019-0446-5 [Online 28 August 2019]. [Abstract Carlson L, Flores V, Sun BZ, Mosley B, Kirste I, Rice A, Sridhar R, Kangarloo T, Vesper HW, Duke L, Botelho JC, Termeulen DC, Adams JM, Filie AC, Shaw ND. 2019. Early breast development in overweight girls: does estrogen made by adipose tissue play a role? Int J Obes (Lond); doi: 10.1038/s41366-019-0446-5 [Online 28 August 2019].]
  9. Carlson LJ, Shaw ND. 2019. Development of Ovulatory Menstrual Cycles in Adolescent Girls. Journal of pediatric and adolescent gynecology 32(3):249-253. [Abstract Carlson LJ, Shaw ND. 2019. Development of Ovulatory Menstrual Cycles in Adolescent Girls. Journal of pediatric and adolescent gynecology 32(3):249-253.] 
  10. Pedersen LC, Inoue K, Susan K, Perera L, Shaw N. 2019. A Ubiquitin-like Domain Is Required for Stabilizing the N-terminal Atpase Module of Human SMCHD1. Communications biology 2019 2:255 2. [Abstract Pedersen LC, Inoue K, Susan K, Perera L, Shaw N. 2019. A Ubiquitin-like Domain Is Required for Stabilizing the N-terminal Atpase Module of Human SMCHD1. Communications biology 2019 2:255 2.] 
  11. Kangarloo T, Adams JM, Sluss P, Chandler DW, Zava DT, Sun BZ, McGrath J, Umbach DM, Shaw ND. The Relationship Between Progesterone, Sleep, and LH and FSH Secretory Dynamics in Early Postmenarchal Girls. The Journal of Clinical Endocrinology and Metabolism 2019 104(6):2184-2194. 3. [Abstract Kangarloo T, Adams JM, Sluss P, Chandler DW, Zava DT, Sun BZ, McGrath J, Umbach DM, Shaw ND. The Relationship Between Progesterone, Sleep, and LH and FSH Secretory Dynamics in Early Postmenarchal Girls. The Journal of Clinical Endocrinology and Metabolism 2019 104(6):2184-2194. 3.]
  12. Carlson LJ, Shaw ND. Development of Ovulatory Menstrual Cycles in Adolescent Girls. Journal of Pediatric and Adolescent Gynecology 2019 Feb 14. pii: S1083-3188(19)30128-7. [Abstract Carlson LJ, Shaw ND. Development of Ovulatory Menstrual Cycles in Adolescent Girls. Journal of Pediatric and Adolescent Gynecology 2019 Feb 14. pii: S1083-3188(19)30128-7.]
  13. McHill AW, Klerman EB, Slater B, Kangarloo T, Mankowski PW, Shaw ND. The Relationship Between Estrogen and the Decline in Delta Power During Adolescence. Sleep. 2017 Mar 1;40(3). doi: 10.1093/sleep/zsx008. PubMed PMID: 28364433. [Abstract McHill AW, Klerman EB, Slater B, Kangarloo T, Mankowski PW, Shaw ND. The Relationship Between Estrogen and the Decline in Delta Power During Adolescence. Sleep. 2017 Mar 1;40(3). doi: 10.1093/sleep/zsx008. PubMed PMID: 28364433.] 
  14. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. PubMed PMID: 28067909. [Abstract Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. PubMed PMID: 28067909.] 
  15. Shaw ND, McHill AW, Schiavon M, Kangarloo T, Mankowski PW, Cobelli C, Klerman EB, Hall JE. Effect of Slow Wave Sleep Disruption on Metabolic Parameters in Adolescents. Sleep. 2016 Aug 1;39(8):1591-9. doi: 10.5665/sleep.6028. PubMed PMID: 27166229; PubMed Central PMCID: PMC4945319. [Abstract Shaw ND, McHill AW, Schiavon M, Kangarloo T, Mankowski PW, Cobelli C, Klerman EB, Hall JE. Effect of Slow Wave Sleep Disruption on Metabolic Parameters in Adolescents. Sleep. 2016 Aug 1;39(8):1591-9. doi: 10.5665/sleep.6028. PubMed PMID: 27166229; PubMed Central PMCID: PMC4945319.] 
  16. Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. PubMed PMID: 26207952; PubMed Central PMCID: PMC4596034. [Abstract Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. PubMed PMID: 26207952; PubMed Central PMCID: PMC4596034.] 
  17. Shaw ND, Butler JP, Nemati S, Kangarloo T, Ghassemi M, Malhotra A, Hall JE. Accumulated deep sleep is a powerful predictor of LH pulse onset in pubertal children. J Clin Endocrinol Metab. 2015 Mar;100(3):1062-70. doi: 10.1210/jc.2014-3563. Epub 2014 Dec 9. PubMed PMID: 25490277; PubMed Central PMCID: PMC4333042. [Abstract Shaw ND, Butler JP, Nemati S, Kangarloo T, Ghassemi M, Malhotra A, Hall JE. Accumulated deep sleep is a powerful predictor of LH pulse onset in pubertal children. J Clin Endocrinol Metab. 2015 Mar;100(3):1062-70. doi: 10.1210/jc.2014-3563. Epub 2014 Dec 9. PubMed PMID: 25490277; PubMed Central PMCID: PMC4333042.] 
  18. Shaw ND, Goodwin JL, Silva GE, Hall JE, Quan SF, Malhotra A. 2013. Obstructive sleep apnea (OSA) in preadolescent girls is associated with delayed breast development compared to girls without OSA. J Clin Sleep Med 9(8):813-818. [Abstract Shaw ND, Goodwin JL, Silva GE, Hall JE, Quan SF, Malhotra A. 2013. Obstructive sleep apnea (OSA) in preadolescent girls is associated with delayed breast development compared to girls without OSA. J Clin Sleep Med 9(8):813-818.] 
  19. Abel BA*, Shaw ND*, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB,Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE. 2013. Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98(2):E206-E216. [Abstract Abel BA*, Shaw ND*, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB,Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE. 2013. Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98(2):E206-E216.]
  20. Shaw ND, Butler JP, McKinney SM, Nelson SA, Ellenbogen JM, Hall JE. 2012. Insights into puberty: the relationship between sleep stages and pulsatile LH secretion. J Clin Endocrinol Metab. 97(11): E2055-2062. [Abstract Shaw ND, Butler JP, McKinney SM, Nelson SA, Ellenbogen JM, Hall JE. 2012. Insights into puberty: the relationship between sleep stages and pulsatile LH secretion. J Clin Endocrinol Metab. 97(11): E2055-2062.] 
  21. Shaw ND*, Gill S*, Lavoie HB, Marsh EE, Hall JE. 2011. Persistence of sleep-associated decrease in GnRH pulse frequency in the absence of gonadal steroids. 2011. J Clin Endocrinol Metab 96(8):2590-2595. *contributed equally as first author [Abstract Shaw ND*, Gill S*, Lavoie HB, Marsh EE, Hall JE. 2011. Persistence of sleep-associated decrease in GnRH pulse frequency in the absence of gonadal steroids. 2011. J Clin Endocrinol Metab 96(8):2590-2595. *contributed equally as first author]
  22. Shaw ND, Seminara SB, Welt CK, Au, MG, Plummer L, Hughes VA, Swyer AA, Martin KA, Quinton R, Mericq V, Merinos PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE. 2011. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab 96(3):E566-576. [Abstract Shaw ND, Seminara SB, Welt CK, Au, MG, Plummer L, Hughes VA, Swyer AA, Martin KA, Quinton R, Mericq V, Merinos PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE. 2011. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab 96(3):E566-576.]
  23. Lucien JN, Ortega MT, Calvert ME, Smith C, White X, Rogers H, Mosley B, Agrawal R, Drude A, McGee C, George M, Brown A, Downey K, Wild C, Njunge A, Kuzmiak CM, Zava D, Zava T, Pollard J, Francis J, Beery BL, Harlin M, Gonzalez GR, Shaw ND. 2022. The launch of a girl's first period study: Demystifying reproductive hormone profiles in adolescent girls. J Pediatr Adolesc Gynecol 2022 Aug;35(4):420-425. doi: 10.1016/j.jpag.2021.12.018. Epub 2022 Jan 11. [Abstract Lucien JN, Ortega MT, Calvert ME, Smith C, White X, Rogers H, Mosley B, Agrawal R, Drude A, McGee C, George M, Brown A, Downey K, Wild C, Njunge A, Kuzmiak CM, Zava D, Zava T, Pollard J, Francis J, Beery BL, Harlin M, Gonzalez GR, Shaw ND. 2022. The launch of a girl's first period study: Demystifying reproductive hormone profiles in adolescent girls. J Pediatr Adolesc Gynecol 2022 Aug;35(4):420-425. doi: 10.1016/j.jpag.2021.12.018. Epub 2022 Jan 11.]

*contributed equally as first authors