RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Published in Clinical case reports (01.04.2023)
Published in Clinical case reports (01.04.2023)
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Journal Article
Dual role of hematopoietic progenitor kinase 1 (HPK1) as a positive regulator of 1α,25-dihydroxyvitamin D-induced differentiation and cell cycle arrest of AML cells and as a mediator of vitamin D resistance
Chen-Deutsch, Xiangwen, Studzinski, George P.
Published in Cell cycle (Georgetown, Tex.) (01.04.2012)
Published in Cell cycle (Georgetown, Tex.) (01.04.2012)
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Journal Article
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
Kanavy, Dona, Goldstein, Jenny, Pinto e Vairo, Filippo, Bali, Deeksha, Chen-Deutsch, Xiangwen, Donti, Taraka, Goomber, Shelly, McGlaughon, Jennifer, Pan, Yinghong, Seifert, Bryce, Fernandez, Raquel, Kyle, Emily, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
Goldstein, Jenny, Waddell, Amber, Aschoff, Carlos, Chen-Deutsch, Xiangwen, Ellinwood, Matthew, Mendez, Roberto, Fernandez, Raquel, Bali, Deeksha, Lund, Troy, Pollard, Laura, Steet, Richard, Pinto e Vairo, Filippo, Wood, Timothy, Clarke, Lorne, Rehder, Catherine
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Eprem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, Collins, Christin, da Silva, Cristina, Kirmse, Brian, Bleyl, Steven, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test
Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin D., Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Balciuniene, Jorune, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
Balciuniene, Jorune, Liu, Ruby, Collins, Christin, Bean, Lora, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
Bean, Lora, Collins, Christin, Guo, Fen, Balciuniene, Jorune, Chen-Deutsch, Xiangwen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Yousaf, Rizwan, Fura, Kristina, Woodman, Amber, Liu, Ruby, Zhang, Jenny, Liebmann, Kate, Gerow, Julia, Chin, Ephrem, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
eP331: Next-generation sequencing testing in identification and differential diagnosis of hereditary anemia due to erythrocyte membrane disorders, enzymopathies and related disorders
Chen-Deutsch, Xiangwen, Collins, Christin, Mathur, Abhinav, Hegde, Madhuri
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin, Bean, Lora, Ma, Zeqiang, Mathur, Abhinav, Da Silva, Cristina, Nallamilli, Babi, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, Balciuniene, Jorune, Hegde, Madhuri
Published in Genetics in medicine (01.01.2024)
Published in Genetics in medicine (01.01.2024)
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Journal Article
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent
Duraisamy, Arul J., Liu, Ruby, Sureshkumar, Shruti, Rose, Rajiv, Jagannathan, Lakshmanan, da Silva, Cristina, Coovadia, Adam, Ramachander, Vinish, Chandrasekar, Sathyapriya, Raja, Indu, Sajnani, Manisha, Selvaraj, Sreekanth M., Narang, Bhuvandeep, Darvishi, Katayoon, Bhayal, Amar C., Katikala, Lavanya, Guo, Fen, Chen-Deutsch, Xiangwen, Balciuniene, Jorune, Ma, Zeqiang, Nallamilli, Babi R.R., Bean, Lora, Collins, Christin, Hegde, Madhuri
Published in The Journal of molecular diagnostics : JMD (01.06.2024)
Published in The Journal of molecular diagnostics : JMD (01.06.2024)
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Journal Article
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri
Published in JAMA network open (03.07.2023)
Published in JAMA network open (03.07.2023)
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Journal Article
Focused Exome Sequencing Gives a High Diagnostic Yield in The Indian Sub-Continent
Duraisamy, Arul Joseph, Liu, Ruby, Sureshkumar, Shruti, Rose, Rajiv, Jagannathan, Lakshmanan, da Silva, Cristina, Coovadia, Adam, Ramachander, Vinish, Chandrasekar, Sathyapriya, Raja, Indu, Sajnani, Manisha, Selvaraj, Sreekanth Muthu, Narang, Bhuvandeep, Darvishi, Katayoon, Bhayal, Amar Chand, Katikala, Lavanya, Guo, Fen, Chen-Deutsch, Xiangwen, Balciuniene, Jorune, Ma, Zeqiang, Nallamilli, Babi Ramesh Reddy, Bean, Lora, Collins, Christin, Hegde, Madhuri
Published in The Journal of molecular diagnostics : JMD (04.04.2024)
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Published in The Journal of molecular diagnostics : JMD (04.04.2024)
Journal Article
Abstract 2287: Inhibition of microRNA-32 leads to decreased expression of the survival-enhancing scaffold protein hKSR2 in human myeloid leukemia cells treated with vitamin D derivatives
Wang, Xuening, Chen-Deutsch, Xiangwen, Harrison, Jonathan S., Studzinski, George P.
Published in Cancer research (Chicago, Ill.) (15.04.2012)
Published in Cancer research (Chicago, Ill.) (15.04.2012)
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Journal Article
c-Jun N-terminal kinase 2 (JNK2) antagonizes the signaling of differentiation by JNK1 in human myeloid leukemia cells resistant to vitamin D
Chen-Deutsch, Xiangwen, Garay, Edward, Zhang, Jing, Harrison, Jonathan S, Studzinski, George P
Published in Leukemia research (01.10.2009)
Published in Leukemia research (01.10.2009)
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Journal Article