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Author/Creator Dauber, Andrew

2. Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant. (1st January 2023)

Authors:
Catli, Gonul; Gao, Wen; Foley, Corinne; Özyilmaz, Berk; Edeer, Neslihan; Diniz, Gulden; Losekoot, Monique; van Doorn, Jaap; Dauber, Andrew; Dundar, Bumin N.; Wit, Jan M.; Hwa, Vivian
Journal:
Molecular and cellular endocrinology
Issue:
Volume 559(2023)
Page Start:
Record Type:
Journal Article
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3. Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency. Issue 4 (9th January 2022)

Authors:
Alexandrou, Eirene; Dauber, Andrew; Tyzinski, Leah; Hwa, Vivian; Andrew, Melissa; Kim, Hee; Elangovan, Stacey; Gubanich, Paul; Taylor‐Haas, Jeffery A.; Paterno, Mark; Backeljauw, Philippe
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 4(2022)
Page Start:
1193
Record Type:
Journal Article
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4. Cross‐sectional Evaluation Of Musculoskeletal Outcomes & Physical Activity Levels In Patients With Aggrecan Deficiency: 2492 May 29 9:45 AM ‐ 10:00 AM. (July 2020)

Authors:
Gubanich, Paul J.; Alexandrou, Eirene; Kim, Hee; Tyzinski, Leah; Hwa, Vivian; Dauber, Andrew; Backeljauw, Philippe
Journal:
Medicine and science in sports and exercise
Issue:
Volume 52(2020)Supplement 7
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Record Type:
Journal Article
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6. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. (January 2019)

Authors:
Heyn, Patricia; Logan, Clare; Fluteau, Adeline; Challis, Rachel; Auchynnikava, Tatsiana; Martin, Carol-Anne; Marsh, Joseph; Taglini, Francesca; Kilanowski, Fiona; Parry, David; Cormier-Daire, Valerie; Fong, Chin-To; Gibson, Kate; Hwa, Vivian; Ibáñez, Lourdes; Robertson, Stephen; Sebastiani, Giorg...
Journal:
Nature genetics
Issue:
Volume 51:Number 1(2019)
Page Start:
96
Record Type:
Journal Article
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8. Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature. Issue 4 (16th March 2015)

Authors:
Wang, Sophie R.; Jacobsen, Christina M.; Carmichael, Heather; Edmund, Aaron B.; Robinson, Jerid W.; Olney, Robert C.; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Veronica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
474
Record Type:
Journal Article
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9. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Issue 11 (7th September 2019)

Authors:
Russell, Bianca E.; Rigueur, Diana; Weaver, Kathryn N.; Sund, Kristen; Basil, Janet S.; Hufnagel, Robert B.; Prows, Cynthia A.; Oestreich, Alan; Al‐Gazali, Lihadh; Hopkin, Robert J; Saal, Howard M.; Lyons, Karen; Dauber, Andrew
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 11(2019)
Page Start:
n/a
Record Type:
Journal Article
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