Skip to main content
Research

Publications: Dr Sasha Howard

Howard SR, Freeston S, Harrison B, Izatt L, Natu S, Newbold K, Pomplun S, Spoudeas HA et al. ( 2022 ) . Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline . Endocrine-related cancer vol. 29 , ( 11 ) G1 - G33 .
Canton A, Tinano F, Guasti L, Montenegro L, Argente J, Ryan F, Shears D, Melo ME et al. ( 2022 ) . RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects . Journal of the Endocrine Society vol. 6 , ( Suppl 1 ) a643 - a644 .
E RJ, Pinheiro-Machado CA, Tinano F, Guasti L, Ribeiro ML, Ryan F, Shears D, Paganoni A et al. ( 2022 ) . Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty . Endocrine Abstracts
Kokotsis V, Burchett C, Butler G, Dattani M, Hughes C, McGuigan M, Shah P, Willemsen R et al. ( 2022 ) . Central Delayed Puberty in Adolescence: Differentiating the phenotypes of Congenital Hypogonadotropic Hypogonadism and Self-Limited Delayed Puberty . Endocrine Abstracts
Dunkel L, Prasad R, Martin L, Senniappan S, Butler G, Howard S ( 2022 ) . UK protocol for induction of puberty with gonadotropins in males with hypogonadotropic hypogonadism . Endocrine Abstracts
Saengkaew T, Howard SR ( 2022 ) . Genetics of pubertal delay . Clinical Endocrinology vol. 97 , ( 4 ) 473 - 482 .
T S, HR P, K B, G B, MT D, M M, HL S, RH W et al. ( 2022 ) . Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty .
T S, G R-B, A D, A M, K M, CP C, MR B, L D et al. ( 2022 ) . Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty .
Howard SR, Kurzawinski TR, Gaze MN ( 2022 ) . New UK guidelines for differentiated thyroid cancer in children . Br J Surg vol. 109 , ( 10 ) 1021 - 1022 .
Martin BS, Howard SR, Hughes CR, Storr HL, Willemsen RH ( 2022 ) . Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 379 - 379 .
Howard S ( 2022 ) . Differential diagnosis of pubertal delay in girls What's new? . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 19 - 19 .
Canton A, Tinano F, Guasti L, Montenegro L, Ryan F, Shears D, Melo ME, Gomes L et al. ( 2022 ) . X-Linked Central Precocious Puberty Associated with MECP2 defects . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 363 - 364 .
Oleari R, Lettieri A, J.J. PA, Amoruso F, Scheiffele P, Howard S, Cariboni A ( 2022 ) . Combined omic analysis revealed autism-linked NLGN3as new candidate gene associated to GnRH neuron development and disease . Endocrine Abstracts .
Oleari R, Lettieri A, Manzini S, Paganoni AJJ, Grazioli P, Busnelli M, Storr HL, Massa V et al. ( 2022 ) . A combined omic analysis revealed autism-linked NLGN3 as a new candidate gene associated to GnRH neuron development and disease . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 30 , 34 - 34 .
Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L et al. ( 2021 ) . Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty . npj Genomic Medicine vol. 6 , ( 1 )
Howard S, Saengkaew T, Dunkel L, Guasti L ( 2021 ) . Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty . Endocrine Abstracts
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH et al. ( 2021 ) . Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty . European Journal of Endocrinology vol. 185 , ( 5 ) 617 - 627 .
Howard SR ( 2021 ) . Interpretation of reproductive hormones before, during and after the pubertal transition—Identifying health and disordered puberty . Clinical Endocrinology vol. 95 , ( 5 ) 702 - 715 .
Howard S ( 2021 ) . Delayed puberty: A genetic condition? . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 7 - 7 .
Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard S ( 2021 ) . Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a665 - a666 .
Saengkaew T, Dunkel L, Howard SR ( 2021 ) . Role of Genetic Analysis for the Differential Diagnosis of Delayed Puberty from the UK Puberty Cohort . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a669 - a669 .
Saengkaew T, Howard SR ( 2020 ) . Next-generation sequencing approach in the diagnosis of delayed puberty . Current Opinion in Endocrine and Metabolic Research vol. 14 , 59 - 64 .
Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJE, Leprovots M, Hadjidemetriou I et al. ( 2020 ) . LGR4 deficiency results in delayed puberty through impaired Wnt/Ī²-catenin signaling . JCI Insight vol. 5 , ( 11 )
Phylactou M, Abbara A, Eng PC, Clarke S, Izzi-Engbeaya C, Jayasena C, Comninos A, Howard S et al. ( 2020 ) . Should SHBG be measured in every patient before diagnosing hypogonadotrophic hypogonadism? . Endocrine Abstracts
Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassert G, Cariboni A et al. ( 2019 ) . Defects in LGR4 Wnt-[beta]-catenin signalling impair GnRH network development, leading to delayed puberty . Endocrine Abstracts
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 .
A M, SR H, CP C, MR B, A D, K W, S H, A L et al. ( 2019 ) . EAP1 regulation of GnRH promoter activity is important for human pubertal timing .
SR H, R O, A P, V C, A F, G R-B, LA M, CP C et al. ( 2019 ) . HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes .
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 .
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 S, Cabrera C, Barnes M, Dunkel L ( 2019 ) . MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort . Journal of the Endocrine Society vol. 3 , ( Suppl 1 ) mon - lb048 .
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 ( 2019 ) . The genetic basis of delayed puberty . Frontiers in Endocrinology vol. 10 , ( JUN )
Howard SR, Cabrera CP, Barnes MR, Dunkel L ( 2018 ) . Delayed or Absent? - use of next generation sequencing diagnostic tools in a UK puberty cohort . Endocrine Abstracts
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 ,
Mancini A, Howard SR, Cabrera CP, Barnes MR, Heger S, Guasti L, Ojeda S, Dunkel L ( 2018 ) . EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 20 - 20 .
Howard S, Newbold K, Freeston S, Natu S, Pomplun S, Izatt L, Gaze M, Barney H et al. ( 2018 ) . Guidelines for the Management of Paediatric Differentiated Thyroid Carcinoma; A UK Endeavour . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 42 - 43 .
Howard S, Oleari R, Mancini A, Poliandri A, Saengkaew T, Guasti L, Cariboni A, Dunkel L ( 2018 ) . Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 68 - 68 .
Howard S, Andre V, Guasti L, Cabrera C, Barnes M, Cariboni A, Dunkel L ( 2017 ) . Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development . Endocrine Abstracts
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 .
Huhtaniemi IT, Howard S, Dunkel L, Anderson RA ( 2017 ) . 4.01 The Gonadal Axis: A Life Perspective . Hormones, Brain and Behavior ,
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 SR, Newbold K, Izatt L, Beale T, Gaze M, Pomplun S, Natu S, Freeston S et al. ( 2017 ) . NATIONAL UK GUIDELINES FOR THE INVESTIGATION, TREATMENT AND LONG- TERM FOLLOW- UP OF PAEDIATRIC DIFFERENTIATED THYROID CARCINOMA . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 385 - 385 .
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
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 . Endocrine Abstracts .
HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al. ( 2016 ) . IGSF10 mutations dysregulate gonadotropinā€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 . The Lancet . vol. 387 ,
Howard S, Dunkel L ( 2016 ) . Sex steroid and gonadotropin treatment in male delayed puberty .
Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH) . Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty . Endocrine Abstracts
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al. ( 2015 ) . Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism . Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. ( 2015 ) . Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration . Endocrine Abstracts
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 S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K et al. ( 2014 ) . A novel gene affecting the timing of puberty . Endocrine Abstracts
Katugampola H, Howard S, Allgrove J ( 2014 ) . PTEN hamartoma syndrome: unravelling the complexities of childhood surveillance . Endocrine Abstracts
Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L, Dunkel L ( 2013 ) . Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population . Endocrine Abstracts1 - 1 .
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 .
Hyams C, Day TG, Ramroop S, Paget S, Howard S, McMillan M, Vora S, De Keyser P ( 2012 ) . An unusual case of incomplete kawasaki disease in an adolescent returning from holiday in montana . Pediatric Cardiology vol. 33 , ( 7 ) 1196 - 1199 .
Howard S ( 2010 ) . Does oral ondansetron reduce vomiting and the need for intravenous fluids and hospital admission in children presenting with vomiting secondary to gastroenteritis? . Archives of Disease in Childhood vol. 95 , ( 11 ) 945 - 947 .
Howard S, Raine J, Dattani M ( 2009 ) . Corneal rupture in a child with Down syndrome and hyperthyroidism . BMJ Case Reports
Howard S, Lyder G, Allgrove J, Shaw N ( 2009 ) . Case histories . Endocr Dev vol. 16 , 246 - 280 .