Jill A. Madden

发表

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

John Reynders, Jignesh R. Parikh, Piotr Sliz, 2021, HGG advances.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Infant Mortality: the Contribution of Genetic Disorders

Jill A. Madden, T. Yu, T. Mullen, 2019, Journal of Perinatology.

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

Jill A. Madden, C. Brownstein, K. Schmitz‐Abe, 2021, PLoS genetics.

The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression

Jill A. Madden, J. Chien, A. Karnezis, 2020, International journal of molecular sciences.

Phosphoramide mustard induces autophagy markers and mTOR inhibition prevents follicle loss due to phosphoramide mustard exposure.

Jill A. Madden, A. Keating, P. Thomas, 2017, Reproductive toxicology.

Obesity alters phosphoramide mustard-induced ovarian DNA repair in mice†

Jill A. Madden, A. Keating, S. Ganesan, 2017, Biology of Reproduction.

Glutathione S-transferase class μ regulation of apoptosis signal-regulating kinase 1 protein during VCD-induced ovotoxicity in neonatal rat ovaries.

Jill A. Madden, P. Hoyer, Poulomi Bhattacharya, 2013, Toxicology and applied pharmacology.

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

John A. Lynch, David C. Kochan, Marc S. Williams, 2020, Journal of personalized medicine.

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome

Jill A. Madden, K. Schmitz‐Abe, Jiahai Shi, 2021, Journal of personalized medicine.

Effect of the p53 P72R Polymorphism on Mutant TP53 Allele Selection in Human Cancer.

Jill A. Madden, J. Chien, D. Koestler, 2021, Journal of the National Cancer Institute.

Congenital Heart Defects Due to TAF1 Missense Variants.

Jill A. Madden, J. Seidman, C. Brownstein, 2020, Circulation Genomic and Precision Medicine.

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

Jill A. Madden, E. Lee, Xuefang Zhao, 2022, European Journal of Human Genetics.

Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries.

Jill A. Madden, P. Hoyer, A. Keating, 2014, Toxicology and applied pharmacology.

Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity.

Jill A. Madden, P. Hoyer, A. Keating, 2014, Toxicology and applied pharmacology.

Olaparib-induced Adaptive Response Is Disrupted by FOXM1 Targeting that Enhances Sensitivity to PARP Inhibition

Jill A. Madden, J. Chien, M. Forrest, 2018, Molecular Cancer Research.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

Ovarian xenobiotic biotransformation enzymes are altered during phosphoramide mustard-induced ovotoxicity.

Jill A. Madden, A. Keating, 2014, Toxicological sciences : an official journal of the Society of Toxicology.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Jill A. Madden, J. Stoler, T. Yu, 2019, Genetics in Medicine.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Jill A. Madden, A. O’Donnell-Luria, C. Brownstein, 2019, European Journal of Human Genetics.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Catherine A Brownstein, Alan H Beggs, Timothy W Yu, 2019, European Journal of Human Genetics.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

Jill A. Madden, C. Brownstein, A. Beggs, 2023, European Journal of Human Genetics.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.

Jill A. Madden, W. Kaelin, Kayla V Hamilton, 2021, The New England journal of medicine.

Progressive obesity alters ovarian insulin, phosphatidylinositol-3 kinase, and chemical metabolism signaling pathways and potentiates ovotoxicity induced by phosphoramide mustard in mice†

Jill A. Madden, A. Keating, M. Dickson, 2017, Biology of Reproduction.

Investigation of mechanisms of follicle depletion and the ovarian protective response to ovotoxicant exposure

Jill A. Madden, 2014 .

Corrigendum: Ovarian xenobiotic biotransformation enzymes are altered during phosphoramide mustard-induced ovotoxicity.

Jill A. Madden, A. Keating, 2015, Toxicological sciences : an official journal of the Society of Toxicology.

Rates of molecular evolution vary in vertebrates for insulin-like growth factor-1 (IGF-1), a pleiotropic locus that regulates life history traits.

Jill A. Madden, S. Boyken, J. Serb, 2012, General and comparative endocrinology.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

Jill A. Madden, S. Prabhu, A. Torres, 2020, American journal of medical genetics. Part A.

Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.

Jill A. Madden, E. Clayton, I. Holm, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure

Jill A. Madden, M. Wojcik, P. Agrawal, 2023, Cold Spring Harbor molecular case studies.