Renkui Bai

发表

Clinical application of whole-exome sequencing across clinical indications

W. Chung, S. Bale, D. Pineda-Alvarez, 2015, Genetics in Medicine.

Mitochondrial polymorphism 12361A>G is associated with nonalcoholic fatty liver disease.

S. Juo, Y. Liao, Ming‐Lung Yu, 2012, Translational research : the journal of laboratory and clinical medicine.

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

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Larry N. Singh, Marni J. Falk, M. Attimonelli, 2020, Human mutation.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

H. Cui, Renkui Bai, Taosheng Huang, 2020, Human mutation.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

S. Stockler-Ipsiroglu, Bojana Rakić, G. Hendson, 2019, Molecular genetics and metabolism reports.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

S. Stockler-Ipsiroglu, Bojana Rakić, G. Hendson, 2019, Molecular genetics and metabolism reports.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion

Marni J. Falk, M. Attimonelli, Lishuang Shen, 2018, Human mutation.

Citrin deficiency, a perplexing global disorder.

A. Hamosh, W. O'Brien, D. Dimmock, 2009, Molecular genetics and metabolism.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular genetics.

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

Junying Yuan, Wanjin Li, Jinqiao Sun, 2019, Nature.

Peroxisome proliferator-activated receptor delta and gamma agonists differentially alter tumor differentiation and progression during mammary carcinogenesis.

R. Glazer, L. Kopelovich, R. Russell, 2005, Cancer research.

Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

A. Vanderver, R. Taft, M. S. van der Knaap, 2016, Annals of neurology.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Marcella Attimonelli, Xiaowu Gai, Lishuang Shen, 2015, Molecular genetics and metabolism.

Characterization of medroxyprogesterone and DMBA‐induced multilineage mammary tumors by gene expression profiling

R. Glazer, L. Kopelovich, Zhihui Xie, 2005, Molecular carcinogenesis.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

R. Rosch, M. A. Basson, Z. Tümer, 2021, Clinical genetics.

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

W. Chung, Yufeng Shen, M. Shinawi, 2016, neurogenetics.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

S. Bale, A. Telegrafi, Brooke T. Smith, 2016, American journal of medical genetics. Part A.

3-Phosphoinositide-dependent Protein Kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases

R. Glazer, Zhihui Xie, Hongyan Yuan, 2006, BMC Cancer.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Peroxisome Proliferator-Activated Receptor δ and γ Agonists Differentially Alter Tumor Differentiation and Progression during Mammary Carcinogenesis

R. Glazer, R. Russell, A. Kozikowski, 2005 .

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

B. Solomon, M. McDonald, R. Schnur, 2021, Genetics in Medicine.

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 syndromes

Marni J. Falk, Lishuang Shen, L. Perera, 2019, PloS one.

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2022, Human mutation.

Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

A. Mammen, D. Leung, Renkui Bai, 2018, Journal of Clinical Neuromuscular Disease.

De novo mutations in PURA are associated with hypotonia and developmental delay

Wendy K. Chung, W. Chung, K. Retterer, 2015, Cold Spring Harbor molecular case studies.

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

Yuan Zhang, Wanjin Li, Jinqiao Sun, 2019, Nature.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Phenotypic continuum of NFU1 ‐related disorders

J. Ganesh, H. Galehdari, S. Efthymiou, 2022, Annals of clinical and translational neurology.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.