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ArticlesPeer ReviewedFull Text
Clinical application of whole-exome sequencing across clinical indications
Author / Creator:Retterer, Kyle ; Juusola, Jane ; Cho, Megan T. ; Vitazka, Patrik ; Millan, Francisca ; Gibellini, Federica ; Vertino-Bell, Annette ; Smaoui, Nizar ; Neidich, Julie ; Monaghan, Kristin G. ; McKnight, Dianalee ; Bai, Renkui ; Suchy, Sharon ; Friedman, Bethany ; Tahiliani, Jackie ; Pineda-Alvarez, Daniel ; Richard, Gabriele ; Brandt, Tracy ; Haverfield, Eden ; Chung, Wendy K. ; Bale, Sherri
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-07, Vol.18 (7), p.696-704
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ArticlesPeer ReviewedFull Text
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1
Author / Creator:Tao, Panfeng ; Sun, Jinqiao ; Wu, Zheming ; Wang, Shihao ; Wang, Jun ; Li, Wanjin ; Pan, Heling ; Bai, Renkui ; Zhang, Jiahui ; Wang, Ying ; Lee, Pui Y. ; Ying, Wenjing ; Zhou, Qinhua ; Hou, Jia ; Wang, Wenjie ; Sun, Bijun ; Yang, Mi ; Liu, Danru ; Fang, Ran ; Han, Huan ; Yang, Zhaohui ; Huang, Xin ; Li, Haibo ; Deuitch, Natalie ; Zhang, Yuan ; Dissanayake, Dilan ; Haude, Katrina ; McWalter, Kirsty ; Roadhouse, Chelsea ; MacKenzie, Jennifer J. ; Laxer, Ronald M. ; Aksentijevich, Ivona ; Yu, Xiaomin ; Wang, Xiaochuan ; Yuan, Junying ; Zhou, Qing
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-01, Vol.577 (7788), p.109-114
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ArticlesPeer ReviewedFull Text
Comment on the criteria for interpretation of mitochondrial tRNA variants
Author / Creator:Bai, Renkui ; Balog, Amanda ; Kiesler, Patricia ; Arjona, Dolores ; Cui, Hong
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-08, Vol.22 (8), p.1418-1419
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ArticlesPeer ReviewedFull Text
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...
Author / Creator:Gustafson, Margaret A ; McCormick, Elizabeth M ; Perera, Lalith ; Longley, Matthew J ; Bai, Renkui ; Kong, Jianping ; Dulik, Matthew ; Shen, Lishuang ; Goldstein, Amy C ; McCormack, Shana E ; Laskin, Benjamin L ; Leroy, Bart P ; Ortiz-Gonzalez, Xilma R ; Ellington, Meredith G ; Copeland, William C ; Falk, Marni J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-09, Vol.14 (9), p.e0221829
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ArticlesPeer ReviewedFull Text
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Author / Creator:Bai, Renkui ; Cui, Hong ; Devaney, Joseph M. ; Allis, Katrina M. ; Balog, Amanda M. ; Liu, Xinyue ; Schnur, Rhonda E. ; Shapiro, Faye L. ; Brautbar, Ariel ; Estrada-Veras, Juvianee I. ; Hochstetler, Laurel ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Solomon, Benjamin D. ; Hofherr, Sean ; Richard, Gabriele ; Suchy, Sharon F.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1514-1521
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ArticlesPeer ReviewedFull Text
3-phosphoinositide-dependent protein kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases
Author / Creator:Xie, Zhihui ; Yuan, Hongyan ; Yin, Yuzhi ; Zeng, Xiao ; Bai, Renkui ; Glazer, Robert I
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2006-03, Vol.6 (1), p.77-77, Article 77
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ArticlesPeer ReviewedFull Text
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion
Author / Creator:Gustafson, Margaret A ; McCormick, Elizabeth M ; Perera, Lalith ; Longley, Matthew J ; Bai, Renkui ; Kong, Jianping ; Dulik, Matthew ; Shen, Lishuang ; Goldstein, Amy C ; McCormack, Shana E ; Laskin, Benjamin L ; Leroy, Bart P ; Ortiz-Gonzalez, Xilma R ; Ellington, Meredith G ; Copeland, William C ; Falk, Marni J
Publisher:Public Library of Science
Journal title:PloS one, 2019-09, Vol.14 (9), p.e0221829
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ArticlesPeer ReviewedFull Text
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
Author / Creator:Beck, David B. ; Cho, Megan T. ; Millan, Francisca ; Yates, Carin ; Hannibal, Mark ; O’Connor, Bridget ; Shinawi, Marwan ; Connolly, Anne M. ; Waggoner, Darrel ; Halbach, Sara ; Angle, Brad ; Sanders, Victoria ; Shen, Yufeng ; Retterer, Kyle ; Begtrup, Amber ; Bai, Renkui ; Chung, Wendy K.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2016-07, Vol.17 (3), p.173-178
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ArticlesPeer ReviewedFull Text
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
Author / Creator:Otero, Maria G. ; Tiongson, Emmanuelle ; Diaz, Frank ; Haude, Katrina ; Panzer, Karin ; Collier, Ashley ; Kim, Jaemin ; Adams, David ; Tifft, Cynthia J. ; Cui, Hong ; Millian Zamora, Francisca ; Au, Margaret G. ; Graham, John M. ; Buckley, David J. ; Lewis, Richard ; Toro, Camilo ; Bai, Renkui ; Turner, Lesley ; Mathews, Katherine D. ; Gahl, William ; Pierson, Tyler Mark
Publisher:United States: John Wiley and Sons Inc
Journal title:Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.154-160
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ArticlesPeer ReviewedFull Text
Phenotypic continuum of NFU1‐related disorders
Author / Creator:Kaiyrzhanov, Rauan ; Zaki, Maha S. ; Lau, Tracy ; Sen, Sambuddha ; Azizimalamiri, Reza ; Zamani, Mina ; Sayin, Gözde Yeşil ; Hilander, Taru ; Efthymiou, Stephanie ; Chelban, Viorica ; Brown, Ruth ; Thompson, Kyle ; Scarano, Maria Irene ; Ganesh, Jaya ; Koneev, Kairgali ; Gülaçar, Ismail Musab ; Person, Richard ; Sadykova, Dinara ; Maidyrov, Yerdan ; Seifi, Tahereh ; Zadagali, Aizhan ; Bernard, Geneviève ; Allis, Katrina ; Elloumi, Houda Zghal ; Lindy, Amanda ; Taghiabadi, Ehsan ; Verma, Sumit ; Logan, Rachel ; Kirmse, Brian ; Bai, Renkui ; Khalaf, Shaimaa M. ; Abdel‐Hamid, Mohamed S. ; Sedaghat, Alireza ; Shariati, Gholamreza ; Issa, Mahmoud ; Zeighami, Jawaher ; Elbendary, Hasnaa M. ; Brown, Garry ; Taylor, Robert W. ; Galehdari, Hamid ; Gleeson, Joseph J. ; Carroll, Christopher J. ; Cowan, James A. ; Moreno‐De‐Luca, Andres ; Houlden, Henry ; Maroofian, Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-12, Vol.9 (12), p.2025-2035
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ArticlesPeer ReviewedFull Text
Novel pathogenic COX 20 variants causing dysarthria, ataxia, and sensory neuropathy
Author / Creator:Otero, Maria G. ; Tiongson, Emmanuelle ; Diaz, Frank ; Haude, Katrina ; Panzer, Karin ; Collier, Ashley ; Kim, Jaemin ; Adams, David ; Tifft, Cynthia J. ; Cui, Hong ; Millian Zamora, Francisca ; Au, Margaret G. ; Graham, John M. ; Buckley, David J. ; Lewis, Richard ; Toro, Camilo ; Bai, Renkui ; Turner, Lesley ; Mathews, Katherine D. ; Gahl, William ; Pierson, Tyler Mark
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.154-160
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ReportsFull Text
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Author / Creator:Gustafson, Margaret A ; McCormick, Elizabeth M ; Perera, Lalith ; Longley, Matthew J ; Bai, Renkui ; Kong, Jianping ; Dulik, Matthew ; Shen, Lishuang ; Goldstein, Amy C ; McCormack, Shana E ; Laskin, Benjamin L ; Leroy, Bart P ; Ortiz-Gonzalez, Xilma R ; Ellington, Meredith G ; Copeland, William C ; Falk, Marni J
Publisher:Public Library of Science
Journal title:PLoS ONE, 2019, Vol.14 (9), p.e0221829
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Clinical application of whole-exome sequencing across clinical indications

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A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

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Comment on the criteria for interpretation of mitochondrial tRNA variants

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...

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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

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3-phosphoinositide-dependent protein kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion

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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

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Phenotypic continuum of NFU1‐related disorders

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Novel pathogenic COX 20 variants causing dysarthria, ataxia, and sensory neuropathy

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

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