Search Results - "Pechter KB"

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Authors: Wild KT Reichert SL Dulik MC et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Nov 20; Vol. 4, pp. 103476. Date of Electronic Publication: 2025 Nov 20 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency.

Authors: Sun, Jiaqi Hu, Huiling Meng, Fei et al.

Source: Journal of Ovarian Research. 8/30/2025, Vol. 18 Issue 1, p1-10. 10p.

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

Authors: Saglia, Claudia Bracciamà, Valeria Trotta, Luca et al.

Source: BMC Medical Genomics. 11/27/2023, Vol. 16 Issue 1, p1-13. 13p.

A large-scale whole-genome sequencing analysis reveals false positives of bacterial essential genes.

Authors: Li, Yuanhao Jiang, Bo Dai, Weijun

Source: Applied Microbiology & Biotechnology; Jan2022, Vol. 106 Issue 1, p341-347, 7p

Automating genomic reanalysis: perspectives of people living with, or impacted by, a genetic, rare or undiagnosed condition.

Authors: Lynch F King E Nona S et al.

Source: BMC medical ethics [BMC Med Ethics] 2026 May 28; Vol. 27 (1). Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient.

Authors: Abarca-Barriga, Hugo H. Chavesta Velásquez, Felix Punil Luciano, Renzo

Source: Egyptian Journal of Medical Human Genetics. 9/23/2022, Vol. 23 Issue 1, p1-6. 6p.

Engineering of bacteria towards programmed autolysis: why, how, and when?

Authors: Dong, Changying Cui, Shenghao Ren, Jialuan et al.

Source: Microbial Cell Factories. 10/28/2024, Vol. 23 Issue 1, p1-15. 15p.

International Undiagnosed Diseases Programs (UDPs): components and outcomes.

Authors: Curic, Ela Ewans, Lisa Pysar, Ryan et al.

Source: Orphanet Journal of Rare Diseases. 11/9/2023, Vol. 18 Issue 1, p1-15. 15p.

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Authors: Salfati, Elias L. Spencer, Emily G. Topol, Sarah E. et al.

Source: Genome Medicine. 12/17/2019, Vol. 11 Issue 1, p1-8. 8p.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Authors: De La Vega, Francisco M. Chowdhury, Shimul Moore, Barry et al.

Source: Genome Medicine. 10/19/2021, Vol. 13 Issue 1, p1-19. 19p.

Defiiciency of intellectual disability-related gene Brpf1 reduced inhibitory neurotransmission in MGE-derived GABAergic interneurons.

Authors: Jingli Cao Weiwei Xian Palihati, Maierdan et al.

Source: G3: Genes | Genomes | Genetics. Aug2021, Vol. 11 Issue 8, p1-12. 12p.

A MODEL ON BACTERIAL RESISTANCE CONSIDERING A GENERALIZED LAW OF MASS ACTION FOR PLASMID REPLICATION.

Authors: IBARGÜEN-MONDRAGÓN, EDUARDO PRIETO, KERNEL HIDALGO-BONILLA, SANDRA PATRICIA

Source: Journal of Biological Systems. Jun2021, Vol. 29 Issue 2, p375-412. 38p.

Clinical Genetic Testing in Children with Kidney Disease.

Authors: Eungu Kang Beom Hee Lee

Source: Childhood Kidney Diseases. Jun2021, Vol. 25 Issue 1, p14-21. 8p.

Transcriptional analysis of amino acid, metal ion, vitamin and carbohydrate uptake in butanol-producing Clostridium beijerinckii NRRL B-598.

Authors: Vasylkivska, Maryna Jureckova, Katerina Branska, Barbora et al.

Source: PLoS ONE. 11/7/2019, Vol. 14 Issue 11, p1-19. 19p.

Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti.

Authors: diCenzo, George C. Benedict, Alex B. Fondi, Marco et al.

Source: PLoS Genetics. 4/19/2018, Vol. 14 Issue 3, p1-31. 31p.

Essential genome of Campylobacter jejuni.

Authors: Mandal, Rabindra K. Tieshan Jiang Young Min Kwon

Source: BMC Genomics. 8/14/2017, Vol. 18, p1-14. 14p. 3 Diagrams, 1 Chart, 4 Graphs.

Metabolic determinants in Listeria monocytogenes anaerobic listeriolysin O production.

Authors: Wallace, Nathan Newton, Eric Abrams, Elizabeth et al.

Source: Archives of Microbiology. Aug2017, Vol. 199 Issue 6, p827-837. 11p.

Defining the ABC of gene essentiality in streptococci.

Authors: Charbonneau, Amelia R. L. Forman, Oliver P. Cain, Amy K. et al.

Source: BMC Genomics. 5/31/2017, Vol. 18, p1-11. 11p. 1 Chart, 5 Graphs.

Antisense transcription as a tool to tune gene expression.

Authors: Brophy, Jennifer AN Voigt, Christopher A

Source: Molecular Systems Biology. Jan2016, Vol. 12 Issue 1, pn/a-N.PAG. 14p.