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A. Dauber · SciRah

Researcher profile · Semantic Scholar

A. Dauber

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A. Dauber — researcher profile on SciRah

h-index: 41
Works: 163
Citations: 5,851

Most-cited papers

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective
P. Collett-Solberg, G. Ambler, P. Backeljauw, M. Bidlingmaier +31 more
2019Hormone Research in Paediatrics316 citations Open access
Semantic Scholar
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
A. Dauber, Marina Cunha-Silva, D. Macedo, V. Brito +15 more
2017Journal of Clinical Endocrinology and Metabolism176 citations Open access
Semantic Scholar
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood
A. Hokken-Koelega, Manouk van der Steen, M. Boguszewski, S. Cianfarani +22 more
2023Endocrine reviews170 citations Open access
Semantic Scholar
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
A. Dauber, M. Muñoz-Calvo, V. Barrios, H. Domené +17 more
2016EMBO Molecular Medicine155 citations Open access
Semantic Scholar
Multicenter, Randomized Trial of a Bionic Pancreas in Type 1 Diabetes
S. Russell, R. Beck, E. Damiano, F. El-Khatib +75 more
2022New England Journal of Medicine142 citations Open access
Semantic Scholar
Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
P. Heyn, Clare V. Logan, Adeline Fluteau, R. Challis +19 more
2018Nature Genetics132 citations Open access
Semantic Scholar
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
A. Gkourogianni, M. Andrew, Leah Tyzinski, M. Crocker +32 more
2017Journal of Clinical Endocrinology and Metabolism131 citations Open access
Semantic Scholar
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
V. Salpietro, Nancy T. Malintan, Isabel Llano-Rivas, C. Spaeth +30 more
2019American Journal of Human Genetics119 citations Open access
Semantic Scholar
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
J. Klammt, D. Neumann, E. Gevers, Shayne F. Andrew +12 more
2018Nature Communications98 citations Open access
Semantic Scholar
DLK1 Is a Novel Link Between Reproduction and Metabolism.
L. Gomes, Marina Cunha-Silva, Raiane P Crespo, C. Ramos +13 more
2018Journal of Clinical Endocrinology and Metabolism98 citations Open access
Semantic Scholar
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
D. Bessa, D. Macedo, V. Brito, M. França +11 more
2016Neuroendocrinology66 citations Open access
Semantic Scholar
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
T. Homma, B. L. Freire, Rachel Sayuri Honjo Kawahira, A. Dauber +12 more
2019Jornal de Pediatria56 citations
Semantic Scholar
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
J. Lui, K. Barnes, Li-Jin Dong, Shan-Na L. Yue +5 more
2018Journal of Clinical Endocrinology and Metabolism51 citations Open access
Semantic Scholar
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
I. Diets, R. van der Donk, Kristina Baltrunaite, E. Waanders +34 more
2019American Journal of Human Genetics46 citations Open access
Semantic Scholar
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Lia Boyle, M. Wamelink, G. Salomons, B. Roos +14 more
2016American Journal of Human Genetics45 citations Open access
Semantic Scholar
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.
M. Muñoz-Calvo, V. Barrios, J. Pozo, J. Chowen +10 more
2016Journal of Clinical Endocrinology and Metabolism44 citations Open access
Semantic Scholar
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
H. Storr, Sumana Chatterjee, L. Metherell, Corinne L Foley +5 more
2018Endocrine reviews41 citations Open access
Semantic Scholar
The Genomics Research and Innovation Network Creating an Interoperable, Federated, Genomics Learning System
K. Mandl, Tracy Glauser, Ian D. Krantz, P. Avillach +28 more
2019Genetics in Medicine40 citations Open access
Semantic Scholar
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study
Zhuo Huang, Yu Sun, Yan-Jie Fan, Li-Li Wang +16 more
2018Cellular Physiology and Biochemistry36 citations Open access
Semantic Scholar
Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2
M. Fujimoto, V. Hwa, A. Dauber
2017Journal of Clinical Research in Pediatric Endocrinology36 citations Open access
Semantic Scholar
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.
Michael H. Guo, A. Dauber, M. Lippincott, Yee-Ming Chan +2 more
2016American Journal of Human Genetics35 citations Open access
Semantic Scholar
Insights and Implications of Genome-Wide Association Studies of Height
Michael H. Guo, J. Hirschhorn, A. Dauber
2018Journal of Clinical Endocrinology and Metabolism33 citations Open access
Semantic Scholar
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Péter Gergics, Cathy Smith, H. Bando, A. Jorge +30 more
2021medRxiv31 citations Open access
Semantic Scholar
Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm?
A. Dauber
2019Journal of Clinical Endocrinology and Metabolism31 citations Open access
Semantic Scholar
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret G Au +51 more
2020Genetics in Medicine30 citations Open access
Semantic Scholar
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Kanimozhi Vairamani, L. Merjaneh, Paula Casano-Sancho, M. Şanlı +9 more
2017Journal of the Endocrine Society29 citations Open access
Semantic Scholar
PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence
M. Andrew, Li-Hong Liao, M. Fujimoto, J. Khoury +2 more
2018Journal of the Endocrine Society28 citations Open access
Semantic Scholar
Clinical Utility of Anti-Mullerian Hormone in Pediatrics
Roopa Kanakatti Shankar, Tazim Dowlut-McElroy, A. Dauber, V. Gomez-Lobo
2021Journal of Clinical Endocrinology and Metabolism27 citations Open access
Semantic Scholar
Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants
W. Gerver, A. Gkourogianni, A. Dauber, O. Nilsson +1 more
2020Hormone Research in Paediatrics27 citations Open access
Semantic Scholar
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density
Catalina Cabrera-Salcedo, T. Mizuno, Leah Tyzinski, M. Andrew +7 more
2017Journal of Clinical Endocrinology and Metabolism27 citations Open access
Semantic Scholar
Two Patients with Severe Short Stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of Acromicric Dysplasia
C. de Bruin, C. Finlayson, M. A. Funari, Gabriela A. Vasques +6 more
2016Hormone Research in Paediatrics27 citations Open access
Semantic Scholar
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness
A. Dauber, Y. Meng, L. Audı́, S. Vedantam +10 more
2020Journal of Clinical Endocrinology and Metabolism21 citations Open access
Semantic Scholar
Using Human Induced Pluripotent Stem Cell Derived Organoids to Identify New Pathologies in Patients with PDX1 Mutations
M. Krishnamurthy, Daniel O. Kechele, Taylor R. Broda, Xinghao Zhang +12 more
2021bioRxiv20 citations Open access
Semantic Scholar
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Paula Ocaranza, Marjorie C. Golekoh, Shayne F. Andrew, Michael H. Guo +7 more
2017Hormone Research in Paediatrics20 citations Open access
Semantic Scholar
Growth hormone stimulation testing patterns contribute to sex differences in pediatric growth hormone treatment
Camilia Kamoun, C. Hawkes, Hareesh Gunturi, A. Dauber +2 more
2021Hormone Research in Paediatrics19 citations Open access
Semantic Scholar
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
E. Globa, N. Zelinska, A. Dauber
2018Case Reports in Endocrinology18 citations Open access
Semantic Scholar
Racial/Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency
C. Hawkes, Hareesh Gunturi, A. Dauber, J. Hirschhorn +1 more
2021Jornal de Pediatria16 citations Open access
Semantic Scholar
Developmental adaptive immune defects associated with STAT5B deficiency in three young siblings
Corinne L Foley, Sareea Alremeithi, C. Towe, A. Dauber +4 more
2020Journal of Clinical Immunology16 citations Open access
Semantic Scholar
Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.
M. Fujimoto, M. Andrew, Li-Hong Liao, Dongsheng Zhang +7 more
2019Endocrinology16 citations Open access
Semantic Scholar
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
T. Homma, B. L. Freire, R. Honjo, A. Dauber +8 more
2019Hormone Research in Paediatrics16 citations
Semantic Scholar
Growth Hormone and Insulin-Like Growth Factor Dysregulation in Pediatric Chronic Kidney Disease
Denver D. Brown, A. Dauber
2021Hormone Research in Paediatrics15 citations
Semantic Scholar
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
Diana S Brightman, Sehar Ejaz, A. Dauber
2018Clinical Case Reports15 citations Open access
Semantic Scholar
Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: One-Year Response.
G. Muthuvel, A. Dauber, Eirene Alexandrou, Leah Tyzinski +3 more
2021Journal of Clinical Endocrinology and Metabolism14 citations Open access
Semantic Scholar
Longitudinal Associations between Low Serum Bicarbonate and Linear Growth in Children with CKD
Denver D. Brown, M. Carroll, Derek K. Ng, Rebecca V. Levy +6 more
2022Kidney36013 citations Open access
Semantic Scholar
Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood
M. Fujimoto, J. Khoury, P. Khoury, B. Kalra +5 more
2020European Journal of Endocrinology13 citations Open access
Semantic Scholar
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.
Catalina Cabrera-Salcedo, Priya Kumar, V. Hwa, A. Dauber
2017Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism13 citations
Semantic Scholar
Genomic Insights into Growth and Its Disorders: An Update
C. de Bruin, A. Dauber
2016Current Opinion in Endocrinology, Diabetes & Obesity13 citations Open access
Semantic Scholar
Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.
M. Fujimoto, M. Andrew, A. Dauber
2020Molecular and Cellular Endocrinology12 citations Open access
Semantic Scholar
Adrenal Insufficiency, Sex Reversal and Angelman Syndrome Due to Uniparental 1 Disomy Unmasking a Mutation in CYP11A1
Ahlee Kim, M. Fujimoto, V. Hwa, P. Backeljauw +1 more
2018Hormone Research in Paediatrics12 citations Open access
Semantic Scholar
Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders.
Nadia Merchant, A. Dauber
2023The Pediatric clinics of North America11 citations
Semantic Scholar

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