Publications:  Dr Sasha Howard

Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJ, Leprovots M, Hadjidemetriou I et al.(2020). LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling. JCI insight vol. 5, (11)

Howard S, de Roux N, Leger J, Carel J-C, Dunkel L(2019). Puberty and its disorders. Brook's Clinical Pediatric Endocrinology, Editors: Dattani, M, Brook, C, John Wiley & Sons

Howard SR(2019). Genetic regulation in pubertal delay. Journal of Molecular Endocrinology vol. 63, (3) R37-R49.

Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera C, Barnes M, Dunkel L, Guasti L, Howard S (2019). Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 67-67.

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassart G, Cariboni A et al. (2019). LGR 4-Wnt beta-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 46-46.

Howard SR(2019). The Genetic Basis of Delayed Puberty. Frontiers in Endocrinology vol. 10,

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Heger S, Lomniczi A et al.(2019). EAP1 regulation of GnRH promoter activity is important for human pubertal timing. Human Molecular Genetics vol. 28, (8) 1357-1368.

Howard SR, Dunkel L(2019). Delayed Puberty – Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries. Endocrine Reviews

Howard S, Dunkel L(2019). Genetics of Delayed Puberty. Contemporary Endocrinology,

Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al.(2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast with Other GnRH Deficiency Genes. Journal of Clinical Endocrinology and Metabolism vol. 103, (9) 3420-3429.

Howard S, Dunkel L(2018). ‘Management of Hypogonadism From Birth to Adolescence’ for Best Practice and Research Clinical Endocrinology and Metabolism. Best Practice & Research Clinical Endocrinology & Metabolism

HOWARD - HALL SRR(2018). Genes underlying delayed puberty. Molecular and Cellular Endocrinology

Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S et al.(2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European Journal of Endocrinology vol. 178, (4) 377-388.

Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S et al.(2018). Contributions of function-Altering variants in genes implicated in pubertal timing and body mass for self-limited delayed puberty. Journal of Clinical Endocrinology and Metabolism vol. 103, (2) 649-659.

Howard S, Dunkel L(2018). Delayed puberty and hypogonadism; female. Encyclopedia of Endocrine Diseases,

Dunkel L, Howard S(2017). The Genetic Basis of Delayed Puberty. Neuroendocrinology vol. 106, (3) 283-291.

Poliandri A, Miller D, Howard S, Nobles M, Ruiz-Babot G, Harmer S, Tinker A, McKay T et al.(2017). Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells. Molecular and Cellular Endocrinology vol. 447, 12-22.

Quinton R, Mamoojee Y, Jayasena CN, Young J, Howard S, Dunkel L, Cheetham T, Smith N et al.(2017). Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty. Clin Endocrinol (Oxf) vol. 86, (2) 305-306.

Howard SR, Andre V, Guasti L, Cabrera CP, Barnes MR, Cariboni A, Dunkel L (2017). DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY. HORMONE RESEARCH IN PAEDIATRICS. vol. 88, 59-59.

Howard S, Dunkel L(2017). Normal and delayed puberty. Contemporary Endocrinology,

Huhtaniemi I, Howard S, Dunkel L, Anderson R(2016). The Gonadal Axis: A life perspective. Hormones, Brain and Behavior, Editors: Pfaff, DW, Joels, M, Academic Press

HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al.(2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. EMBO Molecular Medicine vol. 8, (6) 626-42.

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. (2016). Role of IGSF10 mutations in self-limited delayed puberty. LANCET. vol. 387, 14-14.

Mancini A, Howard SR, Ruiz-Babot G, Cabrera CP, Barnes MR, Guasti L, Dunkel L (2016). LGR4 and EAP1 Mutations are Implicated in the Phenotype of Self-limited Delayed Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 86, 58-58.

Howard S, Dunkel L(2016). Sex steroid and gonadotropin treatment in male delayed puberty.

Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM et al.(2015). IGSF1 variants in boys with familial delayed puberty. European Journal of Pediatrics vol. 174, (5) 687-692.

Howard S, Dunkel L(2014). Delayed Puberty and Hypogonadism, Female. Reference Module in Biomedical Research,

Joustra SD, Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ et al.(2014). IGSF1 variants in boys with familial delayed puberty. European Journal of Pediatrics

Howard SR, Butler GE(2013). An Analysis of the Clinical and Cost Effectiveness of Growth Hormone Replacement Therapy before and during Puberty: Should We Increase the Dose?. Hormone Research in Paediatrics vol. 79, (2) 75-82.

Howard S, Lyder G, Allgrove J, Shaw N(2009). Case histories. Endocr Dev vol. 16, 246-280.