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Author/Creator Arndt, Kelly

1. Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. (21st April 2015)

Authors:
Li, Mindy H; Arndt, Kelly; Das, Soma; Weiss, Elliott M; Wu, Yaning; Gwal, Kriti; Shekdar, Karuna V; Zackai, Elaine H
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1414
Record Type:
Journal Article
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2. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Issue 2 (14th November 2013)

Authors:
Cheng, Yu‐Wei; Tan, Christopher A.; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K.; Kozel, Beth A.; Robin, Nathaniel H.; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Gaudio, Daniela del
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 2(2014:Mar.)
Page Start:
115
Record Type:
Journal Article
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3. Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Issue 7 (14th April 2022)

Authors:
DeRoin, Lia; Cavalcante de Andrade Silva, Marcela; Petras, Kristin; Arndt, Kelly; Phillips, Nathaniel; Wanjari, Pankhuri; Subramanian, Hari Prasanna; Montes, David; McElherne, James; Theissen, Megan; Briese, Renee; Das, Soma; Godley, Lucy A.; Segal, Jeremy; del Gaudio, Daniela; Fitzpatrick, Carri...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
950
Record Type:
Journal Article
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4. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants. Issue 3 (23rd December 2020)

Authors:
Gileta, Alexander F.; Helgeson, Maria L.; Leonard, Jacqueline M. M.; Pyle, Louise C.; Subramanian, Hari P.; Arndt, Kelly; Hawkes, Colin P.; del Gaudio, Daniela
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
889
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗