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Genetics in Medicine (8)
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Showing 1–23 of 23 results

Advanced filters: Author: Mark H Stoler Clear advanced filters

Human papillomavirus type 16 E7 protein sensitizes cervical keratinocytes to apoptosis and release of interleukin-1α

Maite Iglesias
Katy Yen
Craig D Woodworth
Research14 Sept 1998
Oncogene

Volume: 17, P: 1195-1205
Analysis of Ugandan cervical carcinomas identifies human papillomavirus clade–specific epigenome and transcriptome landscapes

Genomic analysis of 118 cervical tumors from Ugandan individuals identifies HPV-clade-specific differences in tumor DNA methylation, regulatory-region-associated histone marks, gene expression and pathway dysregulation.

Alessia Gagliardi
Vanessa L. Porter
Marco A. Marra
Research03 Aug 2020
Nature Genetics

Volume: 52, P: 800-810
Oral immunization with an anti–idiotypic antibody to the exoglycolipid antigen protects against experimental Chlamydia trachomatis infection

Judith A. Whittum-Hudson
Ling-Ling An
A. Bruce Macdonald
Research01 Oct 1996
Nature Medicine

Volume: 2, P: 1116-1121
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Sulfopin is a covalent inhibitor of Pin1 that blocks Myc-driven tumors in vivo

The development of Sulfopin, a highly selective and potent, covalent Pin1 inhibitor that phenocopies Pin1 knockout and regresses tumors in murine and zebrafish models of neuroblastoma as well as in a pancreatic cancer mouse model.

Christian Dubiella
Benika J. Pinch
Nir London
Research10 May 2021
Nature Chemical Biology

Volume: 17, P: 954-963
Looking past PD-L1: expression of immune checkpoint TIM-3 and its ligand galectin-9 in cervical and vulvar squamous neoplasia

Jacob Curley
Mark R. Conaway
Anne M. Mills
Research06 Mar 2020
Modern Pathology

Volume: 33, P: 1182-1192
molBV reveals immune landscape of bacterial vaginosis and predicts human papillomavirus infection natural history

Here, Burk et al. develop an algorithm to diagnose bacterial vaginosis (BV) using the 16S rRNA gene, called molBV, which they use to profile the inflammatory landscape of BV and predict progression of human papillomavirus infection to cervical pre-cancer.

Mykhaylo Usyk
Nicolas F. Schlecht
Robert D. Burk
ResearchOpen Access11 Jan 2022
Nature Communications

Volume: 13, P: 1-12
Differential long-term bivalent HPV vaccine cross-protection by variants in the Costa Rica HPV vaccine trial

Jaimie Z. Shing
Carolina Porras
Mark H. Stoler
ResearchOpen Access08 Jun 2024
npj Vaccines

Volume: 9, P: 1-11
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Polymorphism at Codon 72 of p53 Is Not Associated with Cervical Cancer Risk

Elsa K Malcolm
Gwen B Baber
Mark H Stoler
Research01 Apr 2000
Modern Pathology

Volume: 13, P: 373-378
Localization of deletion to a 300 Kb interval of chromosome 11q13 in cervical cancer

Eri S Srivatsan
Rita Chakrabarti
J Leslie Redpath
Research15 Aug 2002
Oncogene

Volume: 21, P: 5631-5642
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
HPV16 infection decreases vaccine-induced HPV16 antibody avidity: the CVT trial

Sabrina H. Tsang
John T. Schiller
Mark H. Stoler
ResearchOpen Access29 Mar 2022
npj Vaccines

Volume: 7, P: 1-9
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
The Quality of Her-2/Neu Predictive Immunohistochemistry: Something FISHy?

Raymond R Tubbs
Mark H Stoler
Editorial01 Jan 2000
Modern Pathology

Volume: 13, P: 1-3
Advances in Cervical Screening Technology

Mark H Stoler
Research01 Mar 2000
Modern Pathology

Volume: 13, P: 275-284
Mismatch repair status and PD-L1 expression in clear cell carcinomas of the ovary and endometrium

Brian C Willis
Emily A Sloan
Anne M Mills
Research28 Jul 2017
Modern Pathology

Volume: 30, P: 1622-1632
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016

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Human papillomavirus type 16 E7 protein sensitizes cervical keratinocytes to apoptosis and release of interleukin-1α

Analysis of Ugandan cervical carcinomas identifies human papillomavirus clade–specific epigenome and transcriptome landscapes

Oral immunization with an anti–idiotypic antibody to the exoglycolipid antigen protects against experimental Chlamydia trachomatis infection

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Sulfopin is a covalent inhibitor of Pin1 that blocks Myc-driven tumors in vivo

Looking past PD-L1: expression of immune checkpoint TIM-3 and its ligand galectin-9 in cervical and vulvar squamous neoplasia

molBV reveals immune landscape of bacterial vaginosis and predicts human papillomavirus infection natural history

Differential long-term bivalent HPV vaccine cross-protection by variants in the Costa Rica HPV vaccine trial

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Polymorphism at Codon 72 of p53 Is Not Associated with Cervical Cancer Risk

Localization of deletion to a 300 Kb interval of chromosome 11q13 in cervical cancer

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

HPV16 infection decreases vaccine-induced HPV16 antibody avidity: the CVT trial

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

The Quality of Her-2/Neu Predictive Immunohistochemistry: Something FISHy?

Advances in Cervical Screening Technology

Mismatch repair status and PD-L1 expression in clear cell carcinomas of the ovary and endometrium

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Search

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