Publications by authors named "Jill Madden"

Claim this Profile
R
Regression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.
Sara Canovas Nunes, Helen D Reed, Danilo Pellin, Chad Harris, Felicia Andresen, Jill A Madden

Am J Hematol· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden

HGG Adv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Senwei Tan, Qiumeng Zhang, Rui Zhan, Si Luo, Yaoling Han, Jill A Madden

Mol Psychiatry· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.
Mary P Mullen, D Dunbar Ivy, Nidhy P Varghese, Abbey J Winant, Nahir Cortes-Santiago, Jill A Madden

J Pediatr· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden

Res Sq· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein, Jill A Madden

NPJ Genom Med· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Jill A Madden

Ann Neurol· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome Sequencing for Diagnosing Rare Diseases.
Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Jill A Madden

N Engl J Med· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein

Am J Med Genet A· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Jill A Madden

Am J Hum Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Jill A Madden

Hum Mol Genet· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Jill A Madden

medRxiv· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel syndrome associated with prenatal fentanyl exposure.
Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H Wojcik, Jill A Madden

Genet Med Open· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Jill A Madden

medRxiv· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
Qifei Li, Rohan Agrawal, Klaus Schmitz-Abe, Casie A Genetti, Melissa A Fernandes, Jill A Madden

Eur J Hum Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Perinatal-lethal nonimmune fetal hydrops attributed to -associated bone marrow failure.
Camille A Dash, Jill A Madden, Christy Cummings, Melissa Rose, Sheria D Wilson

Cold Spring Harb Mol Case Stud· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Jill A Madden

medRxiv· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Boxun Zhao, Jill A Madden, Jasmine Lin, Gerard T Berry, Monica H Wojcik

Eur J Hum Genet· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.
Jill A Madden, Kyle K Brothers, Janet L Williams, Melanie F Myers, Kathleen A Leppig

Genet Med· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana, Jill A Madden

Cell Rep· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reanalysis of Exome Data Identifies Novel Variants Associated with Leigh Syndrome.
Qifei Li, Jill A Madden, Jasmine Lin, Jiahai Shi, Samantha M Rosen

J Pers Med· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
Junne Kamihara, Kayla V Hamilton, Jessica A Pollard, Catherine M Clinton, Jill A Madden

N Engl J Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F Palafox, Angela Wei, Jill A Madden

Mol Genet Genomic Med· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Jill A Madden

PLoS Genet· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Jignesh R Parikh, Casie A Genetti, Asli Aykanat, Catherine A Brownstein, Klaus Schmitz-Abe, Jill A Madden

HGG Adv· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis