| Year |
Citation |
Score |
| 2023 |
Lofrano-Porto A, Pereira SA, Dauber A, Bloom JC, Fontes AN, Asimow N, de Moraes OL, Araujo PAT, Abreu AP, Guo MH, De Oliveira SF, Liu H, Lee C, Kuohung W, Coelho MS, et al. OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity. The Journal of Clinical Investigation. PMID 37847567 DOI: 10.1172/JCI161701 |
0.607 |
|
| 2021 |
Kamoun C, Hawkes CP, Gunturi H, Dauber A, Hirschhorn JN, Grimberg A. Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment. Hormone Research in Paediatrics. 275-285. PMID 34662877 DOI: 10.1159/000520250 |
0.428 |
|
| 2021 |
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, ... ... Dauber A, et al. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency. American Journal of Human Genetics. PMID 34270938 DOI: 10.1016/j.ajhg.2021.06.013 |
0.636 |
|
| 2021 |
Hawkes CP, Gunturi H, Dauber A, Hirschhorn JN, Grimberg A. Racial/Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency. The Journal of Pediatrics. PMID 33901521 DOI: 10.1016/j.jpeds.2021.04.034 |
0.44 |
|
| 2020 |
Hirschhorn JN, Dauber A, Audi L, Vedantam S, Ranke MB, Jorge AAL, Lindberg A, Camacho-Hübner C, Wajnrajch MP. Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness". The Journal of Clinical Endocrinology and Metabolism. PMID 33174594 DOI: 10.1210/clinem/dgaa735 |
0.454 |
|
| 2020 |
Dauber A, Meng Y, Audi L, Vedantam S, Weaver B, Carrascosa A, Albertsson-Wikland K, Ranke MB, Jorge AAL, Cara J, Wajnrajch MP, Lindberg A, Camacho-Hübner C, Hirschhorn JN. A Genomewide Pharmacogenetic Study of Growth Hormone Responsiveness. The Journal of Clinical Endocrinology and Metabolism. PMID 32652002 DOI: 10.1210/Clinem/Dgaa443 |
0.535 |
|
| 2020 |
Bartell E, Fujimoto M, Khoury JC, Khoury PR, Vedantam S, Astley CM, Hirschhorn JN, Dauber A. Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology. Human Molecular Genetics. 29: 2625-2636. PMID 32484228 DOI: 10.1093/Hmg/Ddaa103 |
0.744 |
|
| 2020 |
Dauber A. Response to Letter to the Editor: Genetic testing for the child with short stature - Has the time come to change our diagnostic paradigm? The Journal of Clinical Endocrinology and Metabolism. 105. PMID 31689347 DOI: 10.1210/Clinem/Dgz178 |
0.302 |
|
| 2019 |
Cabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Feld A, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Hormone Research in Paediatrics. 1-10. PMID 31865343 DOI: 10.1159/000504884 |
0.529 |
|
| 2019 |
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, et al. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31772351 DOI: 10.1038/s41436-019-0711-y |
0.401 |
|
| 2019 |
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL. Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature. Hormone Research in Paediatrics. 1-9. PMID 31715605 DOI: 10.1159/000503782 |
0.334 |
|
| 2019 |
Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, et al. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. The Journal of Pediatrics. PMID 31630891 DOI: 10.1016/J.Jpeds.2019.08.024 |
0.426 |
|
| 2019 |
Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, et al. Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. Hormone Research in Paediatrics. 1-14. PMID 31514194 DOI: 10.1159/000502231 |
0.382 |
|
| 2019 |
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, et al. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31481752 DOI: 10.1038/S41436-019-0646-3 |
0.465 |
|
| 2019 |
Fujimoto M, Andrew M, Liao L, Zhang D, Yildirim G, Sluss P, Kalra B, Kumar A, Yakar S, Hwa V, Dauber A. Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation. Endocrinology. PMID 30977789 DOI: 10.1210/En.2018-00755 |
0.367 |
|
| 2019 |
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, ... ... Dauber A, et al. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. American Journal of Human Genetics. PMID 30929742 DOI: 10.1016/J.Ajhg.2019.02.016 |
0.381 |
|
| 2019 |
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, ... ... Dauber A, et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. American Journal of Human Genetics. PMID 30929739 DOI: 10.1016/J.Ajhg.2019.02.023 |
0.387 |
|
| 2019 |
Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A. Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. Hormone Research in Paediatrics. 1-7. PMID 30836360 DOI: 10.1159/000496700 |
0.388 |
|
| 2019 |
Dauber A. Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm? The Journal of Clinical Endocrinology and Metabolism. 104: 2766-2769. PMID 30753512 DOI: 10.1210/Jc.2019-00019 |
0.303 |
|
| 2019 |
Poyrazoğlu Ş, Hwa V, Baş F, Dauber A, Rosenfeld R, Darendeliler F. A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent Journal of Clinical Research in Pediatric Endocrinology. 11: 432-438. PMID 30717585 DOI: 10.4274/Jcrpe.Galenos.2019.2018.0301 |
0.406 |
|
| 2018 |
Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, et al. DLK1 is a novel link between reproduction and metabolism. The Journal of Clinical Endocrinology and Metabolism. PMID 30462238 DOI: 10.1210/Jc.2018-02010 |
0.314 |
|
| 2018 |
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Non-classical growth hormone insensitivity (GHI): characterization of mild abnormalities of GH action. Endocrine Reviews. PMID 30265312 DOI: 10.1210/Er.2018-00146 |
0.427 |
|
| 2018 |
Brightman DS, Ejaz S, Dauber A. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing Clinical Case Reports. 6: 1531-1534. PMID 30147898 DOI: 10.1002/Ccr3.1655 |
0.439 |
|
| 2018 |
Huang Z, Sun Y, Fan Y, Wang L, Liu H, Gong Z, Wang J, Yan H, Wang Y, Hu G, Wang R, Ye J, Han L, Qiu W, Zhang H, ... ... Dauber A, et al. Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study. Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology. 49: 295-305. PMID 30138938 DOI: 10.1159/000492879 |
0.36 |
|
| 2018 |
Globa E, Zelinska N, Dauber A. The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. Case Reports in Endocrinology. 2018: 8212417. PMID 30057829 DOI: 10.1155/2018/8212417 |
0.43 |
|
| 2018 |
Guo MH, Hirschhorn JN, Dauber A. Insights and implications of genome wide association studies of height. The Journal of Clinical Endocrinology and Metabolism. PMID 29982553 DOI: 10.1210/Jc.2018-01126 |
0.694 |
|
| 2018 |
Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, et al. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nature Communications. 9: 2105. PMID 29844444 DOI: 10.1038/S41467-018-04521-0 |
0.403 |
|
| 2018 |
Kim A, Fujimoto M, Hwa V, Backeljauw P, Dauber A. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. Hormone Research in Paediatrics. PMID 29566378 DOI: 10.1159/000487638 |
0.364 |
|
| 2018 |
Fujimoto M, Hwa V, Dauber A. Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2. Journal of Clinical Research in Pediatric Endocrinology. 9: 1-8. PMID 29280739 DOI: 10.4274/Jcrpe.2017.S001 |
0.342 |
|
| 2017 |
Lui JC, Barnes KM, Dong L, Yue S, Graber E, Rapaport R, Dauber A, Nilsson O, Baron J. Ezh2 mutations found in the Weaver overgrowth syndrome cause a partial loss of H3K27 histone methyltransferase activity. The Journal of Clinical Endocrinology and Metabolism. PMID 29244146 DOI: 10.1210/Jc.2017-01948 |
0.372 |
|
| 2017 |
Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS, Backeljauw PF, Rosenfeld RG, Aisenberg J, Dauber A, Hwa V. Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency. Journal of the Endocrine Society. 1: 345-358. PMID 29188236 DOI: 10.1210/Js.2016-1119 |
0.43 |
|
| 2017 |
Dauber A. New genetic tools in the diagnosis of growth defects. Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. PMID 29157920 DOI: 10.1016/J.Ghir.2017.11.002 |
0.423 |
|
| 2017 |
Cabrera-Salcedo C, Mizuno T, Tyzinski L, Andrew M, Vinks AA, Frystyk J, Wasserman H, Gordon CM, Hwa V, Backeljauw P, Dauber A. Pharmacokinetics of IGF-I in PAPP-A2 Deficient Patients, Growth Response, and Effects on Glucose and Bone Density. The Journal of Clinical Endocrinology and Metabolism. PMID 29029190 DOI: 10.1210/Jc.2017-01411 |
0.324 |
|
| 2017 |
Liao L, Gan HW, Hwa V, Dattani M, Dauber A. Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. Hormone Research in Paediatrics. PMID 28675896 DOI: 10.1159/000477907 |
0.405 |
|
| 2017 |
Cabrera-Salcedo C, Shah AS, Andrew M, Tyzinski L, Hwa V, Gutmark-Little I, Backeljauw P, Dauber A. Isolated Growth Hormone Deficiency due to the R183H Mutation in GH1: Clinical Analysis of a Four-Generation Family. Clinical Endocrinology. PMID 28626954 DOI: 10.1111/Cen.13400 |
0.418 |
|
| 2017 |
Cabrera-Salcedo C, Kumar P, Hwa V, Dauber A. IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations. Pediatric Endocrinology Reviews : Per. 14: 289-297. PMID 28508599 DOI: 10.17458/Per.Vol14.2017.Skhd.Imageandrelatedundergrowth |
0.39 |
|
| 2017 |
Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V. Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies. Hormone Research in Paediatrics. PMID 28395282 DOI: 10.1159/000464143 |
0.65 |
|
| 2017 |
Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, et al. Paternally Inherited DLK1 Deletion Associated with Familial Central Precocious Puberty. The Journal of Clinical Endocrinology and Metabolism. PMID 28324015 DOI: 10.1210/Jc.2016-3677 |
0.437 |
|
| 2017 |
Roberts SA, Moon JE, Dauber A, Smith JR. Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 28195550 DOI: 10.1515/Jpem-2016-0185 |
0.403 |
|
| 2016 |
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, ... ... Dauber A, et al. Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations. The Journal of Clinical Endocrinology and Metabolism. jc20163313. PMID 27870580 DOI: 10.1210/Jc.2016-3313 |
0.422 |
|
| 2016 |
Teresa Muñoz-Calvo M, Barrios V, Pozo J, Chowen JA, Martos-Moreno GÁ, Hawkins F, Dauber A, Domené HM, Yakar S, Rosenfeld RG, Pérez-Jurado LA, Oxvig C, Frystyk J, Argente J. Treatment with recombinant human insulin-like growth factor-I improves growth in patients with PAPP-A2 deficiency. The Journal of Clinical Endocrinology and Metabolism. jc20162751. PMID 27648969 DOI: 10.1210/Jc.2016-2751 |
0.342 |
|
| 2016 |
Nilsson O, Isoherranen N, Guo MH, Lui JC, Jee YH, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski JA, Dauber A, Baron J. Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. PMID 27589347 DOI: 10.1055/S-0042-114038 |
0.657 |
|
| 2016 |
Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. American Journal of Human Genetics. PMID 27545677 DOI: 10.1016/J.Ajhg.2016.06.031 |
0.758 |
|
| 2016 |
Boyle L, Wamelink MM, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, et al. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. American Journal of Human Genetics. 98: 1235-1242. PMID 27259054 DOI: 10.1016/J.Ajhg.2016.03.030 |
0.391 |
|
| 2016 |
de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. Hormone Research in Paediatrics. PMID 27245183 DOI: 10.1159/000446476 |
0.388 |
|
| 2016 |
Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Silva MC, Silveira LG, Hummel T, Bergadá I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology. PMID 27225315 DOI: 10.1159/000446963 |
0.359 |
|
| 2016 |
Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GÁ, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. Embo Molecular Medicine. 8: 363-74. PMID 26902202 DOI: 10.15252/Emmm.201506106 |
0.417 |
|
| 2016 |
De Bruin C, Dauber A. Genomic insights into growth and its disorders: An update Current Opinion in Endocrinology, Diabetes and Obesity. 23: 51-56. DOI: 10.1097/Med.0000000000000209 |
0.466 |
|
| 2015 |
Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O. Short and tall stature: a new paradigm emerges. Nature Reviews. Endocrinology. PMID 26437621 DOI: 10.1038/Nrendo.2015.165 |
0.402 |
|
| 2015 |
Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. Bmc Genomics. 16: 701. PMID 26376624 DOI: 10.1186/S12864-015-1898-1 |
0.611 |
|
| 2015 |
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E789-98. PMID 25742519 DOI: 10.1210/Jc.2015-1098 |
0.374 |
|
| 2015 |
Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. Journal of Pediatric Endocrinology and Metabolism. 28: 927-932. PMID 25741789 DOI: 10.1515/Jpem-2014-0450 |
0.673 |
|
| 2015 |
Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human Mutation. 36: 474-81. PMID 25703509 DOI: 10.1002/Humu.22773 |
0.581 |
|
| 2015 |
De Bruin C, Dauber A. Insights from exome sequencing for endocrine disorders Nature Reviews Endocrinology. 11: 455-464. DOI: 10.1038/Nrendo.2015.72 |
0.346 |
|
| 2014 |
Swartz JM, Akinci A, Andrew SF, Si?irci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. Hormone Research in PæDiatrics. 82: 344-52. PMID 25376329 DOI: 10.1159/000368192 |
0.56 |
|
| 2014 |
Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. The Journal of Clinical Endocrinology and Metabolism. 99: E2117-22. PMID 25057881 DOI: 10.1210/Jc.2014-1949 |
0.669 |
|
| 2014 |
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Hormone Research in Pã¦Diatrics. 82: 44-52. PMID 24970356 DOI: 10.1159/000360857 |
0.726 |
|
| 2014 |
Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. The Journal of Clinical Endocrinology and Metabolism. 99: 3080-92. PMID 24915122 DOI: 10.1210/Jc.2014-1506 |
0.562 |
|
| 2014 |
Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. The Journal of Clinical Endocrinology and Metabolism. 99: E1510-8. PMID 24762113 DOI: 10.1210/Jc.2014-1332 |
0.682 |
|
| 2014 |
Oettingen JEv, Tan W, Dauber A. 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. American Journal of Medical Genetics Part A. 164: 1580-1586. PMID 24668659 DOI: 10.1002/Ajmg.A.36487 |
0.419 |
|
| 2014 |
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. The Journal of Clinical Endocrinology and Metabolism. 99: E1097-103. PMID 24628548 DOI: 10.1210/Jc.2013-3126 |
0.541 |
|
| 2014 |
Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Human Molecular Genetics. 23: 2880-7. PMID 24403049 DOI: 10.1093/Hmg/Ddu001 |
0.533 |
|
| 2014 |
Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. The Journal of Clinical Endocrinology and Metabolism. 99: E153-9. PMID 24243634 DOI: 10.1210/Jc.2013-3106 |
0.591 |
|
| 2014 |
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, et al. Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. The Journal of Clinical Endocrinology and Metabolism. 99: E183-8. PMID 24170103 DOI: 10.1210/Jc.2013-3159 |
0.397 |
|
| 2013 |
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. American Journal of Human Genetics. 93: 798-811. PMID 24140112 DOI: 10.1016/J.Ajhg.2013.09.010 |
0.605 |
|
| 2013 |
Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. American Journal of Medical Genetics. Part A. 161: 2519-27. PMID 23956117 DOI: 10.1002/Ajmg.A.36128 |
0.74 |
|
| 2013 |
Wang SR, Carmichael H, Andrew SF, Miller TC, Moon JE, Derr MA, Hwa V, Hirschhorn JN, Dauber A. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. The Journal of Clinical Endocrinology and Metabolism. 98: E1428-37. PMID 23771920 DOI: 10.1210/Jc.2013-1534 |
0.569 |
|
| 2013 |
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. The New England Journal of Medicine. 368: 2467-75. PMID 23738509 DOI: 10.1056/Nejmoa1302160 |
0.595 |
|
| 2013 |
Wassner AJ, Cohen LE, Hechter E, Dauber A. Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing. Hormone Research in Pã¦Diatrics. 79: 379-86. PMID 23652424 DOI: 10.1159/000350013 |
0.348 |
|
| 2013 |
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases. 8: 63. PMID 23621943 DOI: 10.1186/1750-1172-8-63 |
0.374 |
|
| 2013 |
Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. The Journal of Pediatrics. 162: 202-4.e1. PMID 22974575 DOI: 10.1016/J.Jpeds.2012.07.055 |
0.581 |
|
| 2013 |
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJM, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. Erratum: SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant (The American Journal of Human Genetics (2013) 93(5) (798–811) (S0002929713004230) (10.1016/j.ajhg.2013.09.010)) American Journal of Human Genetics. 93. DOI: 10.1016/J.Ajhg.2013.10.018 |
0.526 |
|
| 2012 |
Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. Clinical Genetics. 84: 213-22. PMID 23167750 DOI: 10.1111/Cge.12064 |
0.577 |
|
| 2012 |
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. The Journal of Clinical Endocrinology and Metabolism. 97: E2140-51. PMID 22933543 DOI: 10.1210/Jc.2012-2150 |
0.587 |
|
| 2012 |
Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B. 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. European Journal of Human Genetics : Ejhg. 20: 534-9. PMID 22166941 DOI: 10.1038/Ejhg.2011.239 |
0.527 |
|
| 2012 |
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. The Journal of Clinical Endocrinology and Metabolism. 97: E268-74. PMID 22112808 DOI: 10.1210/Jc.2011-1972 |
0.503 |
|
| 2011 |
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, et al. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. Plos Genetics. 7: e1002439. PMID 22242009 DOI: 10.1371/Journal.Pgen.1002439 |
0.504 |
|
| 2011 |
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. American Journal of Human Genetics. 89: 751-9. PMID 22118881 DOI: 10.1016/J.Ajhg.2011.10.014 |
0.65 |
|
| 2011 |
Dauber A, Hirschhorn JN. Genome-wide association studies in pediatric endocrinology. Hormone Research in PæDiatrics. 75: 322-8. PMID 21464565 DOI: 10.1159/000326684 |
0.521 |
|
| 2010 |
Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 126: e1594-8. PMID 21041284 DOI: 10.1542/Peds.2010-0164 |
0.599 |
|
| 2010 |
Dauber A, Kellogg M, Majzoub JA. Monitoring of therapy in congenital adrenal hyperplasia. Clinical Chemistry. 56: 1245-51. PMID 20558634 DOI: 10.1373/Clinchem.2010.146035 |
0.305 |
|
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