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L. Karaviti · SciRah

Researcher profile · Semantic Scholar

L. Karaviti

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L. Karaviti — researcher profile on SciRah

h-index: 21
Works: 96
Citations: 1,588

Most-cited papers

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
S. Nagamani, A. Erez, Joseph J. Shen, Chu-Mei Li +10 more
2010European Journal of Human Genetics151 citations Open access
Semantic Scholar
State of the art review in gonadal dysgenesis: challenges in diagnosis and management
Bonnie McCann-Crosby, R. Mansouri, J. E. Dietrich, L. McCullough +8 more
2014International Journal of Pediatric Endocrinology132 citations Open access
Semantic Scholar
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
David S. Geller, Jun-Hui Zhang, M. Zennaro, Alberto Vallo-Boado +11 more
2006Journal of the American Society of Nephrology120 citations
Semantic Scholar
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary E. Hackbarth, Alissa J. Becerril +264 more
2019American Journal of Human Genetics84 citations Open access
Semantic Scholar
Insulin Pump Therapy in Preschool Children with Type 1 Diabetes Mellitus Improves Glycemic Control and Decreases Glucose Excursions and the Risk of Hypoglycemia
George S. Jeha, L. Karaviti, B. Anderson, E. Smith +3 more
2005Diabetes Technology & Therapeutics68 citations
Semantic Scholar
Continuous glucose monitoring and the reality of metabolic control in preschool children with type 1 diabetes.
George S. Jeha, L. Karaviti, B. Anderson, E. Smith +3 more
2004Diabetes Care66 citations
Semantic Scholar
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF
Linda Z. Rossetti, Kevin E. Glinton, Bo Yuan, Peng-Fei Liu +8 more
2019American Journal of Medical Genetics. Part A64 citations Open access
Semantic Scholar
Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it.
Alexander S. Karageorgiadis, G. Papadakis, J. Biró, M. Keil +12 more
2015Journal of Clinical Endocrinology and Metabolism58 citations Open access
Semantic Scholar
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation
Meenal Mendiratta, Ya-Ping Yang, A. Balazs, Alecia Willis +3 more
2011International Journal of Pediatric Endocrinology58 citations Open access
Semantic Scholar
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
M. Almeida, M. Azevedo, P. Xekouki, Eirini I. Bimpaki +10 more
2012Journal of Clinical Endocrinology and Metabolism56 citations Open access
Semantic Scholar
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team
G. Douglas, M. Axelrad, M. Brandt, Elizabeth Crabtree +9 more
2010International Journal of Pediatric Endocrinology42 citations Open access
Semantic Scholar
Pituitary and systemic autoimmunity in a case of intrasellar germinoma
A. Gutenberg, J. Bell, I. Lupi, Shey-Cherng Tzou +6 more
2009Pituitary38 citations Open access
Semantic Scholar
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Lindsay C. Burrage, J. Reynolds, N. Baratang, J. Phillips +54 more
2019American Journal of Human Genetics35 citations Open access
Semantic Scholar
Neonatal Diabetes Mellitus: Patient Reports and Review of Current Knowledge and Clinical Practice
George S. Jeha, M. Venkatesh, Rachel C. Edelen, K. Kienstra +2 more
2005Journal of Pediatric Endocrinology & Metabolism (JPEM)30 citations
Semantic Scholar
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
Kathleen M. Kayes-Wandover, G. Tannin, D. Shulman, Dror Peled +3 more
2001Journal of Clinical Endocrinology and Metabolism29 citations Open access
Semantic Scholar
Intrauterine growth restriction and hypospadias: is there a connection?
Min-Jye Chen, C. Macias, S. Gunn, J. Dietrich +3 more
2014International Journal of Pediatric Endocrinology28 citations Open access
Semantic Scholar
Rapid resolution of consumptive hypothyroidism in a child with hepatic hemangioendothelioma following liver transplantation.
A. Balazs, Ioanna D. Athanassaki, S. Gunn, N. Tatevian +3 more
2007Annals of Clinical and Laboratory Science25 citations
Semantic Scholar
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis.
George S. Jeha, E. Lowenthal, W. Chan, Shao-Ming Wu +1 more
2006Jornal de Pediatria23 citations
Semantic Scholar
Type 1 Doing Well: Pilot Feasibility and Acceptability Study of a Strengths-Based mHealth App for Parents of Adolescents with Type 1 Diabetes
M. Hilliard, Viena T. Cao, S. S. Eshtehardi, C. Minard +4 more
2020Diabetes Technology & Therapeutics22 citations Open access
Semantic Scholar
Challenges in Prenatal Treatment with Dexamethasone
Bonnie McCann-Crosby, F. Placencia, O. Adeyemi, J. Dietrich +7 more
2018Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism22 citations
Semantic Scholar
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Min-Jye Chen, B. K. Vu, M. Axelrad, J. Dietrich +7 more
2015Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism22 citations
Semantic Scholar
Birth prevalence of hypospadias and hypospadias risk factors in newborn males in the United States from 1997 to 2012.
Min-Jye Chen, L. Karaviti, David R. Roth, B. Schlomer
2018Journal of Pediatric Urology21 citations
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Diagnosis and management of precocious puberty in atypical presentations of McCune-Albright syndrome: a case series review.
Jennifer L. Bercaw-Pratt, Tracy Patel Moorjani, X. Santos, L. Karaviti +1 more
2012Journal of Pediatric and Adolescent Gynecology19 citations
Semantic Scholar
A Multicenter Retrospective Review of Pediatric Leydig Cell Tumor of the Testis
Taylor M. Luckie, M. Danzig, Sheng-Mei Zhou, Hao Wu +3 more
2019Journal of pediatric hematology/oncology17 citations
Semantic Scholar
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor
Helen Hooper, B. C. Figueiredo, Carla C. Pavan-Senn, L. D. de Lacerda +4 more
2004Clinical Genetics16 citations
Semantic Scholar
First STEPS: Primary Outcomes of a Randomized, Stepped-Care Behavioral Clinical Trial for Parents of Young Children With New-Onset Type 1 Diabetes.
M. Hilliard, Carrie B. Tully, M. Monaghan, Tom Hildebrandt +9 more
2022Diabetes Care15 citations Open access
Semantic Scholar
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
J. Newman, Aaron C. Shaver, Jonathan H. Sheehan, S. Mallal +208 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Ethical and legal implications of genetic testing in androgen insensitivity syndrome.
J. Berg, Shannon French, L. McCullough, Soledad Kleppe +3 more
2007Jornal de Pediatria15 citations
Semantic Scholar
Papillary thyroid cancer: a pediatric perspective.
Timothy K Flannery, J. L. Kirkland, Kenneth C. Copeland, Alison A. Bertuch +2 more
1996Pediatrics15 citations
Semantic Scholar
Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess
Fady Hannah-Shmouni, G. Trivellin, P. Beckers, L. Karaviti +8 more
2022Journal of Clinical Medicine14 citations Open access
Semantic Scholar
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
Bonnie McCann-Crosby, Min-Jye Chen, Sarah K. Lyons, Yue-Zhen Lin +6 more
2014Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism14 citations
Semantic Scholar
Guidelines for evaluating and managing children born with disorders of sexual development.
G. Douglas, M. Axelrad, M. Brandt, Elizabeth Crabtree +10 more
2012Pediatric annals14 citations
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students
Megan E. Grove, Shana White, D. Fisk, Shannon Rego +200 more
2019Journal of Genetic Counseling12 citations Open access
Semantic Scholar
Thyroid surgery outcomes at a Children's Hospital: The value of a multidisciplinary team approach.
D. Wesson, Brittany L. Johnson, Charlene Barclay, A. Vogel +10 more
2021Journal of Pediatric Surgery11 citations
Semantic Scholar
Strengths-Based Behavioral Intervention for Parents of Adolescents With Type 1 Diabetes Using an mHealth App (Type 1 Doing Well): Protocol for a Pilot Randomized Controlled Trial
M. Hilliard, S. S. Eshtehardi, C. Minard, R. Saber +4 more
2018JMIR Research Protocols11 citations Open access
Semantic Scholar
Fluidity models in ancient Greece and current practices of sex assignment
Min-Jye Chen, Bonnie McCann-Crosby, S. Gunn, Paraskevi Georgiadis +5 more
2017Seminars in Perinatology11 citations Open access
Semantic Scholar
Selective Serotonin Reuptake Inhibitors Reduce Longitudinal Growth in Risperidone‐Treated Boys
Chadi A. Calarge, J. Mills, L. Karaviti, A. Teixeira +2 more
2018Jornal de Pediatria10 citations Open access
Semantic Scholar
Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis
Bonnie McCann-Crosby, S. Gunn, E. O. Smith, L. Karaviti +1 more
2015International Journal of Pediatric Endocrinology10 citations Open access
Semantic Scholar
Osteopenic Effects of MgS04 in Multiple Pregnancies
Walid Kaplan, Morey W. Haymond, S. McKay, L. Karaviti
2006Journal of Pediatric Endocrinology & Metabolism (JPEM)10 citations
Semantic Scholar
Bringing Back the Term “Intersex”
Johanna M Viau-Colindres, M. Axelrad, L. Karaviti
2017Pediatrics9 citations
Semantic Scholar
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.
Johanna Viau Colindres, M. Axelrad, L. McCullough, E. O. Smith +9 more
2016Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism9 citations
Semantic Scholar
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
N. Brunetti-Pierri, R. Mendoza-Londono, Maulik R. Shah, L. Karaviti +1 more
2004American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Parent Perspectives of School/Daycare Experiences in Young Children Newly Diagnosed With Diabetes.
Alexa Stern, Brenda Duran, R. Streisand, Christine H. Wang +7 more
2023Journal of Pediatric Psychology8 citations Open access
Semantic Scholar
Patients' and Caregivers' Attitudes toward 'Disorders of Sex Development' Nomenclature.
A. D'Oro, I. Rosoklija, D. Jacobson, C. Finlayson +14 more
2020Journal of Urology8 citations
Semantic Scholar
Up all night? Sleep disruption in parents of young children newly diagnosed with type 1 diabetes
Iman S. Al-Gadi, R. Streisand, Carrie B. Tully, M. Monaghan +3 more
2022Pediatric Diabetes7 citations
Semantic Scholar
The gender medicine team: "it takes a village".
M. Axelrad, J. Berg, L. Coker, J. Dietrich +7 more
2009Advances in Pediatrics7 citations
Semantic Scholar
FSH Injections and Ultrasonography Determine Presence of Ovarian Components in the Evaluation of Ovotesticular Disorders of Sex Development
Shannon French, L. Rodriguez, A. Schlesinger, L. McCullough +3 more
2009International Journal of Pediatric Endocrinology7 citations Open access
Semantic Scholar
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report
Brady A Slater, Kevin E. Glinton, Hongzheng Dai, Erica Lay +6 more
2020American Journal of Medical Genetics. Part A6 citations
Semantic Scholar

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