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1 . Academic Journal
A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach
저자
by
Namrata Setia
;
Daniela delGaudio
;
Priscilla Kandikatla
;
Kelly Arndt
;
Melissa Tjota
, et al.
소스
The Journal of Pathology: Clinical Research, Vol 10, Iss 1, Pp n/a-n/a (2024)
Open Access (Wiley)
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Web of Science
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7 .
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders
저자
by
Lia DeRoin
;
Marcela Cavalcante de Andrade Silva
;
Kristin Petras
;
Kelly Arndt
;
Nathaniel Phillips
, et al.
소스
Human mutation
. 43(7)
Open Access (OpenAIRE)
Scopus
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7 .
Further delineation of a recognizable type of syndromic short stature caused by biallelic
SEMA3A
loss‐of‐function variants
저자
by
Maria Helgeson
;
Hari Prasanna Subramanian
;
Alexander F. Gileta
;
Louise C. Pyle
;
Colin P. Hawkes
, et al.
소스
Am J Med Genet A
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
저자
by
Zejuan Li
;
Erin Sandford
;
Viswateja Nelakuditi
;
Miao Sun
;
Kym M. Boycott
, et al.
소스
Genetics in Medicine
. 21:195-206
Open Access (OpenAIRE)
Full Text (ScienceDirect O/A)
Web of Science
Scopus
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7 .
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA
저자
by
Mark A. Atkinson
;
Ying Ying Hu
;
Desmond A. Schatz
;
Martha Campbell-Thompson
;
Kelly Arndt
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. 103:35-45
Full Text (OUP)
Full Text (OUP Near Archive)
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7 .
Assessing the Feasibility and Limitations of Cultured Skin Fibroblasts for Germline Genetic Testing in Hematologic Disorders
저자
by
Soma Das
;
Pankhuri Wanjari
;
Hari Prasanna Subramanian
;
Lia DeRoin
;
Carrie Fitzpatrick
, et al.
소스
Blood
. 136:35-36
Open Access (OpenAIRE)
Full Text (ScienceDirect O/A)
Web of Science
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7 .
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes
저자
by
Soma Das
;
N. S. Young
;
Viswateja Nelakuditi
;
Gorka Alkorta-Aranburu
;
Jane E. Churpek
, et al.
소스
Leukemia
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Assessment of FcgRIIIA single nucleotide polymorphisms (SNPs) on the efficacy of IgG1 monoclonal antibodies (mAbs) in PANGEA study patients (pts) with advanced gastroesophageal adenocarcinoma (aGEA)
저자
by
Anthony Serritella
;
Daniela del Gaudio
;
Ping Liu
;
Bryan Peterson
;
Nicole Arndt
, et al.
소스
Journal of Clinical Oncology
. 38:4526-4526
Web of Science
Scopus
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7 .
Compound heterozygoteCDK5RAP2mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay
저자
by
Elliott Mark Weiss
;
Karuna Shekdar
;
Kriti Gwal
;
Soma Das
;
Elaine H. Zackai
, et al.
소스
American Journal of Medical Genetics Part A
. 167:1414-1417
Web of Science
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7 .
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis
저자
by
N. Meeks
;
Soma Das
;
Kelly Arndt
;
S. Sastry
;
Viswateja Nelakuditi
, et al.
소스
Clinical Genetics
. 89:478-483
Web of Science
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