Publications: Dr Sasha Howard

Evans SR, d’Aniello F, Alexander EC, Dinah I, Heger S, Nordenstrom A, Rohayem J, Howard SR ( 2024 ) . Gonadotropin therapy for mini-puberty induction in male infants with hypogonadotropic hypogonadism: a systematic review . The Journal of Clinical Endocrinology & Metabolism

Dunkel L, Saengkaew T, Howard SR ( 2024 ) . Disorders of Puberty and Their Management . Paediatric Endocrinology , Springer Nature

Read JE, Vasile‐Tudorache A, Newsome A, Lorente MJ, Agustín‐Pavón C, Howard SR ( 2024 ) . Disorders of puberty and neurodevelopment: A shared etiology? . Annals of the New York Academy of Sciences vol. 1541 , ( 1 ) 83 - 99 .

d'Aniello F, Mariniello K, Al Sayed Y, Bhavsar K, Read JE, Guasti L, Howard SR ( 2024 ) . The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation . Hormone Research in Paediatrics1 - 11 .

He W, Schafer EC, Brauner R, Delaney A, Dunkel L, Grinspon R, Hall JE, Hirschhorn JN et al. ( 2024 ) . 12330 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP) . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

He W, Schafer EC, Brauner R, Delaney A, Dunkel L, Grinspon R, Hall JE, Hirschhorn JN et al. ( 2024 ) . 6846 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP) . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

Aslam AA, Lim S, Willemsen R, Koysombat K, Young M, Dhillo WS, Abbara A, Howard S et al. ( 2024 ) . 7640 The first description of an MC4R variant in a patient with Kallmann syndrome and obesity . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

A AA, Lim S, Willemsen RH, Koysombat K, Young M, Dhillo WS, Abbara A, Howard SR et al. ( 2024 ) . First description of kisspeptin unresponsive hypogonadotrophic hypogonadism, anosmia with olfactory hypoplasia (kallmann syndrome) and obesity due to an MC4R variant . Endocrine Abstracts

Castro S, Brungs R, Gevers E, Howard SR ( 2024 ) . Minipuberty: a golden phase for optimal treatment. recombinant gonadotropin therapy during minipuberty in males with hypogonadotropic hypogonadism: a case series . Endocrine Abstracts

Castro S, Laurer E, Varughese R, Bryce J, Ahmed F, Rey R, Hogler W, Heger S et al. ( 2024 ) . Towards best practice therapies for patients with gonadotropin deficiency in minipuberty and puberty . Endocrine Abstracts

De Silva N, Howard SR, O'Sullivan J, Russell J, Lee A, Duffy L, Cheetham T, Mamoojee Y et al. ( 2024 ) . Gonadotropin treatment of cryptorchidism in congenital hypogonadotropic hypogonadism—Age is no limit? . Clinical Endocrinology vol. 101 , ( 3 ) 282 - 285 .

Rhys‐Evans S, Howard SR ( 2024 ) . Combined gonadotropin therapy to replace mini‐puberty in male infants with congenital hypogonadotropic hypogonadism . Annals of the New York Academy of Sciences vol. 1537 , ( 1 ) 32 - 40 .

Tsoutsouki J, Comninos AN, Phylactou M, Young M, Mills E, Maria NA, Wynn NS, Koysombat K et al. ( 2024 ) . Making scents of hemi-anosmia in a woman presenting with secondary amenorrhoea . Endocrine Abstracts

Tsoutsouki J, N CA, Phylactou M, Patel B, Mills E, Young M, Yeung A, Koysombat K et al. ( 2024 ) . Endocrine responses to kisspeptin in an unusual case of kallmann syndrome with unilateral anosmia . Endocrine Abstracts

Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE et al. ( 2024 ) . Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism . The Journal of Clinical Endocrinology & Metabolism

Rohayem J, Alexander EC, Heger S, Nordenström A, Howard SR ( 2024 ) . Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement . Endocrine Reviews vol. 45 , ( 4 ) 460 - 492 .

Howard SR ( 2024 ) . Delayed puberty and hypogonadism; Female . Reference Module in Biomedical Sciences , Elsevier

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Yin KN, Hoskyns R, Varughese R, Howard SR ( 2023 ) . Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis . European Journal of Endocrinology vol. 190 , ( 1 ) s1 - s11 .

Hoskyns RB, Howard SR ( 2023 ) . Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review . Journal of Pediatric Endocrinology and Metabolism vol. 37 , ( 2 ) 102 - 109 .

Lettieri A, Oleari R, van den Munkhof MH, van Battum EY, Verhagen MG, Tacconi C, Spreafico M, Paganoni AJJ et al. ( 2023 ) . SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability . Nature Communications vol. 14 , ( 1 )

Howard SR, Quinton R ( 2023 ) . Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty . Journal of Pediatric Endocrinology and Metabolism vol. 37 , ( 1 ) 1 - 7 .

d'Aniello F, Aung Y, Kokotsis V, Howard SR ( 2023 ) . Can clinical, biochemical and genetic parameters help distinguish congenital hypogonadotrophic hypogonadism from self-limited delayed puberty? . Endocrine Abstracts

Read J, Guasti L, Paganoni A, Howard S ( 2023 ) . Rare variants in the MECP2 gene in girls with central precocious puberty . Endocrine Abstracts

Alexander E, Yin KN, Faruqi D, Farquhar R, Unadkat A, Varughese R, Howard S ( 2023 ) . Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism . Endocrine Abstracts

Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L et al. ( 2023 ) . Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism . Frontiers in Endocrinology vol. 14 ,

Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG et al. ( 2023 ) . Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study . The Lancet Diabetes & Endocrinology vol. 11 , ( 8 ) 545 - 554 .

Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ et al. ( 2023 ) . Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty . The Journal of Clinical Endocrinology & Metabolism vol. 108 , ( 12 ) e1580 - e1587 .

Alexander E, Rohayem J, Nordenström A, Heger S, Howard S ( 2023 ) . 286 Infants with congenital hypogonadotropic hypogonadism presenting with micropenis and/or cryptorchidism- should they be treated with gonadotropins <1 year of age? . Conference: British Society of Paediatric Endocrinology and Diabetesa248.2 - a2a249 .

Mistry JN, Silvennoinen S, Zaman F, Sävendahl L, Mariniello K, Hall C, Howard SR, Dunkel L et al. ( 2023 ) . The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants . Frontiers in Endocrinology vol. 14 ,

Alexander E, Faruqi D, Farquhar R, Unadkat A, Ng YK, Kokotsis V, Howard S ( 2023 ) . A systematic review of gonadotropin and GnRH therapy for the induction or completion of puberty in males with hypogonadotropic hypogonadism . Endocrine Abstracts

Sanpawithayakul K, Howard S, Korbonits M ( 2023 ) . Kisspeptin Kindred: Case Report and Literature Review . Endocrine Abstracts

Aung Y, Kokotsis V, Howard S ( 2023 ) . Phenotypic and genotypic variation in pubertal presentation among patients with self-limited delayed puberty and hypogonadotrophic hypogonadism . Endocrine Abstracts

Dunkel L, Saengkaew T, Howard SR ( 2023 ) . Disorders of Puberty and Their Management . Paediatric Endocrinology , Springer Nature

Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P et al. ( 2023 ) . Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease . Disease Models & Mechanisms vol. 16 , ( 3 )

Howard SR, Fanis P, Nicolaides NC, Grandone A ( 2023 ) . Editorial: Genetic, epigenetic and molecular landscaping of puberty . Frontiers in Endocrinology vol. 14 ,

Rezende R, Schafer E, Kaisinger L, Dantas N, Andrade N, Cellin L, Quedas E, He W et al. ( 2023 ) . Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing . HORMONE RESEARCH IN PAEDIATRICS . vol. 96 , 52 - 52 .

Al Sayed Y, Howard SR ( 2022 ) . Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective . European Journal of Human Genetics vol. 31 , ( 4 ) 387 - 394 .

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 , ( Supplement_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

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 .

Howard SR, Kurzawinski TR, Gaze MN ( 2022 ) . New UK guidelines for differentiated thyroid cancer in children . British Journal of Surgery vol. 109 , ( 10 ) 1021 - 1022 .

Oleari R, Lettieri A, J.J. PA, Amoruso F, Scheiffele P, Howard S, Cariboni A . 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 <i>NLGN3</i> as a new candidate gene associated to GnRH neuron development and disease . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 30 , 34 - 34 .

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 <i>MECP2</i> defects . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 363 - 364 .

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, Howard SR ( 2021 ) . Genetics of pubertal delay . Clinical Endocrinology vol. 97 , ( 4 ) 473 - 482 .

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 .

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 .

Howard S ( 2021 ) . Delayed puberty: A genetic condition? . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 7 - 7 .

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/β-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 .

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

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 , ( Supplement_1 ) mon - lb048 .

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 )

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 . Pituitary Disorders of Childhood , Springer Nature

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 .

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 β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 46 - 46 .

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 . The Journal of Clinical Endocrinology & 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 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, Heger S, Guasti L, Ojeda S, Dunkel L ( 2018 ) . <i>EAP1</i> 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, Dunkel L ( 2018 ) . Delayed Puberty and Hypogonadism, Female . Encyclopedia of Endocrine Diseases , Elsevier

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

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 SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O’Rahilly S et al. ( 2017 ) . Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty . The Journal of Clinical Endocrinology & Metabolism vol. 103 , ( 2 ) 649 - 659 .

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 .

Howard S, Dunkel L ( 2017 ) . Normal and Delayed Puberty . Male Hypogonadism , Springer Nature

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 , Elsevier

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 .

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 . 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 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 . The Lancet . vol. 387 ,

Howard S, Dunkel L ( 2015 ) . Sex Steroid and Gonadotropin Treatment in Male Delayed Puberty . Karger Publishers

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, 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 ) . Question 1 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 )

Howard S, Raine J, Dattani M ( 2009 ) . Corneal rupture in a child with Down syndrome and hyperthyroidism . BMJ Case Reports vol. 2009 , ( mar05 1 )

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