Search Results - "Neumann, Serena"

Data from electronic healthcare records expand our understanding of X‐linked genetic diseases by Tinker, Rory J., Bastarache, Lisa, Ezell, Kimberly, Neumann, Serena M., Furuta, Yutaka, Morgan, Karee A., Phillips, John A.

“…Disease specific cohort studies have reported details on X linked (XL) disorders affecting females. We investigated the spectrum and penetrance of XL disorders…”
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Probable digenic inheritance of Diamond–Blackfan anemia by Furuta, Yutaka, Tinker, Rory J, Gulsevin, Alican, Neumann, Serena M., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Liu, Qi, Chen, Hua‐Chang, Joos, Karen M., Phillips, John A.

“…A 26‐year‐old female proband with a clinical diagnosis and consistent phenotype of Diamond–Blackfan anemia (DBA, OMIM 105650) without an identified genotype…”
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A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency by Furuta, Yutaka, Nelson, Erica T., Neumann, Serena M., Phillips, John A., Hamid, Rizwan, Tinker, Rory J., Cogan, Joy D., Rives, Lynette, Newman, John H.

“…Abstract A 72‐year‐old man was referred to the Undiagnosed Diseases Network (UDN) because of gradual progressive weakness in both lower extremities for the…”
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P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases by Tinker, Rory, Bastarache, Lisa, Ezell, Kimberly, Neumann, Serena, Furuta, Yutaka, Morgan, Karee, Phillips, John

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition by Ezell, Kimberly M., Furuta, Yutaka, Oglesbee, Devin, Pivnick, Eniko K., Rinker, David, Sheehan, Jonathan H., Tinker, Rory J., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Neumann, Serena, Corner, Brian, Koziura, Mary, Phillips, John A.

“…Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the STT3A gene. Most CDGs have an…”
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Acute Liver Injury Following Delandistrogene Moxeparvovec Gene Therapy Requiring Intravenous Immunoglobulin by Duvuru, Ruthwik, Neumann, Serena, Beemarajan, Eniya, Burnette, W. Bryan, Cox, Rachel, Mohammad, Saeed, Modi, Arunkumar J., Butler, Megan W., Soslow, Jonathan, Veerapandiyan, Aravindhan

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Reanalysis of undiagnosed disease reveals formerly recessive congenital disorder of glycosylation, type Iw due to de novo STT3A variant by Ezell, Kimberly, Furuta, Yutaka, Tinker, Rory, Corner, Brian, Neumann, Serena, Hamid, Rizwan, Cogan, Joy, Capra, Tony, Rinker, David, Epivnick, Eniko, Oglesbee, Devin, Phillips, John

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A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency by Furuta, Yutaka, Nelson, Erica T, Neumann, Serena M, Phillips, John A, Hamid, Rizwan, Tinker, Rory J, Cogan, Joy D, Rives, Lynette, Newman, John H

“…A 72-year-old man was referred to the Undiagnosed Diseases Network (UDN) because of gradual progressive weakness in both lower extremities for the past 45…”
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