A. Dauber

发表

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

Aleksey A. Porollo, C. de Bruin, V. Mericq, 2015, The Journal of clinical endocrinology and metabolism.

Closed-Loop Insulin Therapy Improves Glycemic Control in Children Aged <7 Years

G. Steil, A. Dauber, M. Agus, 2013, Diabetes Care.

Clinical Utility of Anti-Mullerian Hormone in Pediatrics

A. Dauber, T. Dowlut-McElroy, Roopa Kanakatti Shankar, 2021, The Journal of clinical endocrinology and metabolism.

DLK1 Is a Novel Link Between Reproduction and Metabolism.

M. Lees, A. Dauber, E. Baracat, 2018, The Journal of clinical endocrinology and metabolism.

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, The Journal of pediatrics.

Application of Genomics to the Study of Human Growth Disorders

Michael H. Guo, M. Guo, A. Dauber, 2016 .

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

M. Weirauch, D. Haig, R. Carroll, 2017, The Journal of clinical endocrinology and metabolism.

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

A. Dauber, Diana S Brightman, S. Ejaz, 2018, Clinical case reports.

Whole Exome Sequencing and Large-Scale Targeted Sequencing to Identify Novel Candidate Genes in Idiopathic Short Stature

A. Dauber, 2015 .

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

Timothy C. Miller, J. Hirschhorn, Shayne F. Andrew, 2013, The Journal of clinical endocrinology and metabolism.

Decrease in nosocomial pneumonia in ventilated patients by selective oropharyngeal decontamination (SOD)

A. Dauber, A. Bauernfeind, M. Abele-Horn, 1997, Intensive Care Medicine.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

J. Hirschhorn, Z. Gucev, R. Carroll, 2014, The Journal of clinical endocrinology and metabolism.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Keith Marsolo, In-Hee Lee, Bria Morgan, 2019, Genetics in Medicine.

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness

J. Hirschhorn, Y. Meng, S. Vedantam, 2020, The Journal of clinical endocrinology and metabolism.

Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

J. Hirschhorn, S. Vedantam, C. Astley, 2020, Human molecular genetics.

Pediatrics: HbA1c levels for the diagnosis of diabetes mellitus in children

A. Dauber, J. Wolfsdorf, 2010, Nature Reviews Endocrinology.

Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome.

A. Dauber, T. Smolarek, P. Backeljauw, 2019, The Journal of pediatrics.

A randomized study comparing fluconazole with amphotericin B/5-flucytosine for the treatment of systemicCandida infections in intensive care patients

A. Dauber, A. Kopp, M. Abele-Horn, 1996, Infection.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial

A. Eliakim, M. Phillip, T. Battelino, 2020, The Journal of clinical endocrinology and metabolism.

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, Hormone Research in Paediatrics.

Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy

A. Dauber, M. McCann, L. Karlin, 2011, Canadian journal of anaesthesia = Journal canadien d'anesthesie.

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

J. Hirschhorn, Yiping Shen, A. Dauber, 2015, BMC Genomics.

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

J. Hirschhorn, S. Abrams, A. Dauber, 2012, The Journal of clinical endocrinology and metabolism.

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5‐year‐old boy—Report of the second family with B3GAT3 mutation and expansion of the phenotype

A. Dauber, J. V. von Oettingen, W. Tan, 2014, American journal of medical genetics. Part A.

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes

D. Perry, T. Foster, V. Hwa, 2020, Hormone Research in Paediatrics.

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Michael H. Guo, M. Guo, Shayne F. Andrew, 2017, Hormone Research in Paediatrics.

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

J. Hirschhorn, Yiping Shen, A. Dauber, 2014, The Journal of clinical endocrinology and metabolism.

Anthropometric and Biochemical Correlates of PAPP-A2, Free IGF-I, and IGFBP-3 in Childhood.

C. Oxvig, P. Sluss, V. Hwa, 2020, European journal of endocrinology.

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

L. Cohen, S. Radovick, A. Hoffman, 2019, Hormone Research in Paediatrics.

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

C. Gordon, V. Hwa, A. Dauber, 2017, The Journal of clinical endocrinology and metabolism.

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Michael H. Guo, H. Ostrer, Yiping Shen, 2014, The Journal of clinical endocrinology and metabolism.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

I. Temple, B. Searle, A. Dauber, 2019, Hormone Research in Paediatrics.

Association between non-cow milk beverage consumption and childhood height

A. Dauber, J. Fairchild, K. Heath, 2018 .

Longitudinal Associations between Low Serum Bicarbonate and Linear Growth in Children with CKD

A. Dauber, S. Furth, M. Melamed, 2022, Kidney360.

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

J. Hirschhorn, A. Dauber, J. Picker, 2010, Pediatrics.

Evolution of Rescue Systems: A Comparison between Cologne and Cleveland

A. Dauber, B. Bouillon, A. Lechleuthner, 1994, Prehospital and Disaster Medicine.

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene

Michael H. Guo, M. Guo, A. Dauber, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

A. Dauber, I. Bergadá, U. Kaiser, 2016, Neuroendocrinology.

Using Human Induced Pluripotent Stem Cell Derived Organoids to Identify New Pathologies in Patients with PDX1 Mutations

A. Dauber, J. Palermo, M. Collins, 2019, bioRxiv.

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

V. Hwa, A. Dauber, Z. Kuloğlu, 2015, Journal of Clinical Immunology.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

M. Losekoot, J. Wit, V. Hwa, 2022, Molecular and Cellular Endocrinology.

Report of the 94 th Annual Meeting of the Endocrine Society , Houston , TX . – JUNE 23-26 , 2012

V. Salomaa, T. Frayling, L. Vatten, 2012 .

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Gabriela A. Vasques, C. de Bruin, V. Hwa, 2016, Hormone Research in Paediatrics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Growth Hormone and Insulin-Like Growth Factor Dysregulation in Pediatric Chronic Kidney Disease

A. Dauber, Denver D. Brown, Denver D Brown, 2021, Hormone Research in Paediatrics.

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

S. Poyrazoglu, F. Baş, F. Darendeliler, 2019, Journal of clinical research in pediatric endocrinology.

Novel Insights from Clinical Practice

M. Guo, Shayne F. Andrew, V. Hwa, 2017 .

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency

Jeffery A Taylor-Haas, V. Hwa, A. Dauber, 2022, American journal of medical genetics. Part A.

Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment

J. Hirschhorn, A. Dauber, C. Hawkes, 2021, Hormone Research in Paediatrics.

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

Monitoring of therapy in congenital adrenal hyperplasia.

A. Dauber, J. Majzoub, M. Kellogg, 2010, Clinical chemistry.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

J. Hirschhorn, F. de Zegher, R. Carroll, 2013, The New England journal of medicine.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Childhood Growth Hormone Deficiency and Hypopituitarism

L. Cohen, A. Dauber, C. Romero, 2013 .

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity

J. Baron, J. Lui, A. Dauber, 2018, The Journal of clinical endocrinology and metabolism.

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Rany M Salem, Andrew Dauber, Joel N Hirschhorn, 2016, American journal of human genetics.

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

A. Dauber, L. Liang, Yongguo Yu, 2018, Cellular Physiology and Biochemistry.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

F. Faucz, C. Stratakis, I. Holm, 2014, The Journal of clinical endocrinology and metabolism.

Insights and Implications of Genome-Wide Association Studies of Height

Michael H. Guo, J. Hirschhorn, M. Guo, 2018, The Journal of clinical endocrinology and metabolism.

Genetic evaluation of short stature.

J. Hirschhorn, A. Dauber, R. Rosenfeld, 2014, The Journal of clinical endocrinology and metabolism.

Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

L. Pérez-Jurado, C. Conover, C. Oxvig, 2016, EMBO molecular medicine.

Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: One-Year Response.

V. Hwa, A. Dauber, P. Backeljauw, 2021, The Journal of clinical endocrinology and metabolism.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Genomic insights into growth and its disorders: an update

C. de Bruin, A. Dauber, 2016, Current opinion in endocrinology, diabetes, and obesity.

Short and tall stature: a new paradigm emerges

M. Phillip, J. Baron, J. Wit, 2015, Nature Reviews Endocrinology.

Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature

Timothy C. Miller, J. Hirschhorn, M. Warman, 2015, Human mutation.

Short and tall stature: a new paradigm

M. Phillip, J. Wit, A. Dauber, 2015 .

Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals

Markus Perola, Kaisa Silander, Michael Boehnke, 2011, PLoS genetics.

Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome

M. Dattani, V. Hwa, A. Dauber, 2017, Hormone Research in Paediatrics.

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

J. Hirschhorn, Eliana Hechter, J. Stoler, 2013, The Journal of pediatrics.

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

V. Hwa, A. Dauber, L. Metherell, 2018, Endocrine reviews.

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

Michael H. Guo, J. Hirschhorn, M. Guo, 2014, The Journal of clinical endocrinology and metabolism.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Allison P. Heath, Andrew Joseph Guidetti, I. Krantz, 2019, Genetics in Medicine.

Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature

Michael H. Guo, C. Acerini, M. Guo, 2016, Hormone and Metabolic Research.

[The incidence of postoperative pain on general surgical wards. Results of different evaluation procedures].

E. Neugebauer, A. Dauber, H. Troidl, 1993, Der Anaesthesist.

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

E. Demerath, J. Hirschhorn, Y. Meng, 2011, American journal of human genetics.

Procalcitonin Levels in Febrile Infants After Recent Immunization

A. Dauber, K. Becker, R. Bachur, 2008, Pediatrics.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

W. Chung, S. Saitta, J. Wynn, 2016, American journal of human genetics.

Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

A. Dauber, Jessica R. Smith, S. Roberts, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

J. Wit, A. Dauber, O. Nilsson, 2020, Hormone Research in Paediatrics.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Procalcitonin in Young Febrile Infants for the Detection of Serious Bacterial Infections

Andrew Dauber, A. Dauber, K. Becker, 2008, Pediatrics.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

Genome-Wide Association Studies in Pediatric Endocrinology

J. Hirschhorn, A. Dauber, 2011, Hormone Research in Paediatrics.

Utility of Procalcitonin to Identify Young Febrile Infants at Low Risk of Serious Bacterial Infections

A. Dauber, R. Bachur, E. Nylén, 2007 .

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

V. Hwa, A. Dauber, Z. Kuloğlu, 2015, Journal of Clinical Immunology.

Insights from exome sequencing for endocrine disorders

A. Dauber, C. Bruin, 2015, Nature Reviews Endocrinology.

Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects

A. Dauber, M. Fujimoto, M. Andrew, 2020, Molecular and Cellular Endocrinology.

Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology

J. Hirschhorn, S. Vedantam, A. Dauber, 2020, bioRxiv.

Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm?

A. Dauber, 2019, The Journal of clinical endocrinology and metabolism.

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

L. Cohen, Eliana Hechter, A. Dauber, 2013, Hormone Research in Paediatrics.

Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal Hyperplasia

A. Dauber, H. Feldman, J. Majzoub, 2010, International journal of pediatric endocrinology.

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Michael H. Guo, J. Hirschhorn, J. Stoler, 2013, American journal of medical genetics. Part A.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

J. Rosenfeld, J. Beckmann, J. Hirschhorn, 2013, American journal of human genetics.

Racial/Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency.

J. Hirschhorn, A. Dauber, C. Hawkes, 2021, The Journal of pediatrics.

Response to Letter to the Editor: “A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”

J. Hirschhorn, S. Vedantam, A. Dauber, 2020, The Journal of clinical endocrinology and metabolism.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency

C. de Bruin, V. Hwa, A. Dauber, 2016, Hormone Research in Paediatrics.

A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype

J. Hirschhorn, Shayne F. Andrew, V. Hwa, 2014, Hormone Research in Paediatrics.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

J. Hirschhorn, V. Hwa, A. Dauber, 2019, Hormone Research in Paediatrics.

New genetic tools in the diagnosis of growth defects.

A. Dauber, 2017, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

IGF-I Deficiency in the Era of Genomics: Lessons Learned

A. Dauber, 2017, Hormone Research in Paediatrics.

Whole Exome Sequencing to Identify Genetic Causes of Short Stature

Timothy C. Miller, Michael H. Guo, J. Hirschhorn, 2014, Hormone Research in Paediatrics.

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

A. Oestreich, K. Lyons, K. Sund, 2019, Molecular genetics & genomic medicine.

Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein

V. Hwa, A. Dauber, Dongsheng Zhang, 2019, Clinical endocrinology.

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.

J. Hirschhorn, A. Dauber, P. Nigrovic, 2014, Human molecular genetics.

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

J. Hirschhorn, T. Pers, J. Baron, 2012, The Journal of clinical endocrinology and metabolism.

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

V. Hwa, A. Dauber, P. Backeljauw, 2020, Journal of Clinical Immunology.

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

V. Hwa, A. Dauber, P. Backeljauw, 2020, Journal of Clinical Immunology.

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

V. Hwa, A. Dauber, L. Metherell, 2017, Journal of the Endocrine Society.

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency.

L. Pérez-Jurado, C. Oxvig, A. Dauber, 2016, The Journal of clinical endocrinology and metabolism.

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2

V. Hwa, A. Dauber, M. Fujimoto, 2017, Journal of clinical research in pediatric endocrinology.

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.

P. Sluss, V. Hwa, A. Dauber, 2019, Endocrinology.

PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence

V. Hwa, A. Dauber, J. Khoury, 2018, Journal of the Endocrine Society.

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

V. Mericq, A. Dauber, M. Yau, 2023, Endocrine reviews.

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

Yiping Shen, A. Dauber, Thutrang T. Nguyen, 2013, Clinical genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders.

A. Dauber, Nadia Merchant, 2023, Pediatric clinics of North America.

Multicenter, Randomized Trial of a Bionic Pancreas in Type 1 Diabetes.

Kristen M. Williams, J. Keith Jones, P. Raskin, 2022, The New England journal of medicine.

The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes

A. Dauber, N. Zelinska, E. Globa, 2018, Case reports in endocrinology.

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Michael H. Guo, J. Hirschhorn, R. Salem, 2016, American journal of human genetics.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

J. Hirschhorn, F. de Zegher, R. Carroll, 2013, The New England journal of medicine.

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

Timothy C. Miller, J. Hirschhorn, Shayne F. Andrew, 2013, The Journal of clinical endocrinology and metabolism.

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5‐year‐old boy—Report of the second family with B3GAT3 mutation and expansion of the phenotype

A. Dauber, J. V. von Oettingen, W. Tan, 2014, American journal of medical genetics. Part A.

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Michael H. Guo, J. Hirschhorn, J. Stoler, 2013, American journal of medical genetics. Part A.