Lacey Plummer
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View article: OR26-05 Non-Reproductive Features are Widespread and Occur in Phenotypic Clusters in Patients with Isolated Hypogonadotropic Hypogonadism (IHH)
OR26-05 Non-Reproductive Features are Widespread and Occur in Phenotypic Clusters in Patients with Isolated Hypogonadotropic Hypogonadism (IHH) Open
Disclosure: A. Goel: None. S. Shekhar: None. J. Priest: None. S.B. Seminara: None. L. Plummer: None. W.F. Crowley: None. A. Delaney: None. J.E. Hall: None. Introduction: Isolated hypogonadotropic hypogonadism (IHH) is a syndrome characteri…
View article: SUN-162 The Contribution Of Rare Non-coding 5’UTR Variants In The Genetic Architecture Of Isolated Hypogonadotropic Hypogonadism
SUN-162 The Contribution Of Rare Non-coding 5’UTR Variants In The Genetic Architecture Of Isolated Hypogonadotropic Hypogonadism Open
Disclosure: G. Markantes: None. J. Fu: None. M.B. Campbell: None. H. Brand: None. M. Talkowski: None. L. Plummer: None. S.B. Seminara: None. R. Balasubramanian: None. M.I. Stamou: None. Introduction: Isolated hypogonadotropic hypogonadism …
View article: SUN-148 Successful Development of Gonadotropin-releasing Hormone Neurons from Human Pluripotent Stem Cells
SUN-148 Successful Development of Gonadotropin-releasing Hormone Neurons from Human Pluripotent Stem Cells Open
Disclosure: M. Campbell: None. L. Plummer: None. S. Koli: None. R. Balasubramanian: None. S.B. Seminara: None. Background: Gonadotropin-releasing hormone (GnRH)-secreting neurons in the hypothalamus are central to the neuroendocrine regula…
View article: 9242 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits
9242 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits Open
Disclosure: B. Sun: None. S. Stockman: None. M. Stamou: None. L. Plummer: None. K. Salnikov: None. D. Kotan: None. K. Topaloglu: None. S.B. Seminara: None. R. Balasubramanian: None. AbstractPurpose: Human SOX11 mutations cause Coffin-Siris…
View article: 8474 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits
8474 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits Open
Disclosure: B. Sun: None. S. Stockman: None. M. Stamou: None. L. Plummer: None. K. Salnikov: None. D. Kotan: None. K. Topaloglu: None. S.B. Seminara: None. R. Balasubramanian: None. Purpose: Human SOX11 mutations cause Coffin-Siris Syndrom…
View article: 8474 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits
8474 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits Open
Disclosure: B. Sun: None. S. Stockman: None. M. Stamou: None. L. Plummer: None. K. Salnikov: None. D. Kotan: None. K. Topaloglu: None. S.B. Seminara: None. R. Balasubramanian: None. AbstractPurpose: Human SOX11 mutations cause Coffin-Siris…
View article: 8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism Open
Disclosure: M. Stamou: None. M. Tompkin: None. H. Bow: None. H. Brand: None. L. Plummer: None. M. Talkowski: None. Y. Shen: None. D. Wu: None. R. Balasubramanian: None. S. Wray: None. S.B. Seminara: None. The genetic etiology of infertilit…
View article: 9242 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits
9242 SOX11 mutations cause hypogonadotropic hypogonadism through both hypothalamic and pituitary level deficits Open
Disclosure: B. Sun: None. S. Stockman: None. M. Stamou: None. L. Plummer: None. K. Salnikov: None. D. Kotan: None. K. Topaloglu: None. S.B. Seminara: None. R. Balasubramanian: None. AbstractPurpose: Human SOX11 mutations cause Coffin-Siris…
View article: 8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism Open
Disclosure: M. Stamou: None. M. Tompkin: None. H. Bow: None. H. Brand: None. L. Plummer: None. M. Talkowski: None. Y. Shen: None. D. Wu: None. R. Balasubramanian: None. S. Wray: None. S.B. Seminara: None. The genetic etiology of infertilit…
View article: Expanding the Spectrum of Endocrine Abnormalities Associated With <i>SOX11</i>-related Disorders
Expanding the Spectrum of Endocrine Abnormalities Associated With <i>SOX11</i>-related Disorders Open
Context SOX11 variants cause Coffin-Siris syndrome, characterized by developmental delay, hypogonadotropic hypogonadism, and skeletal and facial defects. Objective To examine the contribution of SOX11 variants to the pathogenesis of idiopa…
View article: Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism
Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism Open
Pubertal timing is a highly heritable trait in the general population. Recently, a large‐scale exome‐wide association study has implicated rare variants in six genes ( KDM4C , MC3R , MKRN3 , PDE10A , TACR3 , and ZNF483 ) as genetic determi…
View article: Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With <i>FGFR1</i> Mutations
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With <i>FGFR1</i> Mutations Open
Context Activation of fibroblast growth factor receptor 1 (FGFR1) signaling improves the metabolic health of animals and humans, while inactivation leads to diabetes in mice. Direct human genetic evidence for the role of FGFR1 signaling in…
View article: FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypogonadotropic Hypogonadism With Phenotypic Pleiotropic Intersection With Cerebellar Malformation
FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypogonadotropic Hypogonadism With Phenotypic Pleiotropic Intersection With Cerebellar Malformation Open
Disclosure: J. Cassin: None. D.L. Keefe: None. K.E. Sung: None. C.C. Bojo: None. G. Santiago: None. L. Plummer: None. K.B. Salnikov: None. S.B. Seminara: None. R. Balasubramania: None. P.L. Mellon: None. Isolated Hypogonadotropic Hypogonad…
View article: OR34-04 Defective FGFR1 Signaling Disrupts Glucose Regulation In Humans: Evidence From Patients With Isolated Hypogonadotropic Hypogonadism Harboring FGFR1 Mutations
OR34-04 Defective FGFR1 Signaling Disrupts Glucose Regulation In Humans: Evidence From Patients With Isolated Hypogonadotropic Hypogonadism Harboring FGFR1 Mutations Open
Disclosure: M. Stamou: None. C.J. Chiu: None. S. Jadhav: None. K. Salnikov: None. L. Plummer: None. S.B. Seminara: None. R. Balasubramanian: None. Introduction: Recent studies have shown that antibody-mediated activation of FGFR1 receptor …
View article: Prevalence of Deleterious Variants in <i>MC3R</i> in Patients With Constitutional Delay of Growth and Puberty
Prevalence of Deleterious Variants in <i>MC3R</i> in Patients With Constitutional Delay of Growth and Puberty Open
Context The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In population-based studies, heterozygous carriers of deleterio…
View article: A functional spectrum of <i>PROKR2</i> mutations identified in isolated hypogonadotropic hypogonadism
A functional spectrum of <i>PROKR2</i> mutations identified in isolated hypogonadotropic hypogonadism Open
Isolated hypogonadotropic hypogonadism (IHH) is a rare disease with hypogonadism and infertility caused by the defects in embryonic migration of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, hypothalamic GnRH secretion or GnR…
View article: Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms Open
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped co…
View article: <b>Defective FGFR1 signaling disrupts glucose regulation: Evidence from humans with </b><b><i>FGFR1</i></b><b> mutations. </b>Maria I. Stamou, Crystal J. Chiu, Shreya V. Jadhav, Vanessa Ferreira Lopes, Kathryn B. Salnikov, Lacey Plummer, Margaret F. Lippincott, Hang Lee, Stephanie B. Seminara, Ravikumar Balasubramanian
<b>Defective FGFR1 signaling disrupts glucose regulation: Evidence from humans with </b><b><i>FGFR1</i></b><b> mutations. </b>Maria I. Stamou, Crystal J. Chiu, Shreya V. Jadhav, Vanessa Ferreira Lopes, Kathryn B. Salnikov, Lacey Plummer, Margaret F. Lippincott, Hang Lee, Stephanie B. Seminara, Ravikumar Balasubramanian Open
Supplemental Tables 1-3 for the manuscript entitled "Defective FGFR1 signaling disrupts glucose regulation: Evidence from humans with FGFR1 mutations."
View article: Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study Open
Congenital hypogonadotropic hypogonadism (HH) is a heterogeneous genetic disorder characterized by disrupted puberty and infertility. In most cases, HH is abiding yet 10-15% undergo reversal. Men with HH and absent and partial puberty (i.e…
View article: LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea
LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea Open
Introduction Functional hypothalamic amenorrhea (HA) is commonly associated with increased exercise or decreased caloric intake and often with stress. We have previously demonstrated an increased burden of rare sequence variants (RSVs) in …
View article: Reproductive Phenotypes and Genotypes in Men With IHH
Reproductive Phenotypes and Genotypes in Men With IHH Open
Context Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. Objective This work aimed to determine the correlation between genotypic severity with pubertal and neuroendocrine phenotypes in IHH men.…
View article: Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism Open
Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. Objective To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. Met…
View article: Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Idiopathic Hypogonadotropic Hypogonadism.
Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Idiopathic Hypogonadotropic Hypogonadism. Open
Supplemental Material (Tables 1-7) and Supplemental References.
View article: Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Idiopathic Hypogonadotropic Hypogonadism.
Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Idiopathic Hypogonadotropic Hypogonadism. Open
Supplemental Material (Tables 1-7) and Supplemental References.
View article: Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Supplemental Material_Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism. Open
Supplemental Material (Tables 1-7) and Supplemental References.
View article: Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism
Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism Open
Introduction: While the role of single nucleotide variants (SNVs) in causal genes for Idiopathic Hypogonadotropic hypogonadism (IHH) is known, the contribution of copy number variants (CNVs) to IHH has not been systematically studied. Here…