Publications by authors named "Di Milnes"

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Distinguishing benign from pathogenic duplications involving and -adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.
Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, Magdalena Pasińska, Constantine A Stratakis, Di Milnes

medRxiv· July 2025

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Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.
Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos, Di Milnes

NPJ Genom Med· March 2025

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Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.
Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos, Di Milnes

NPJ Genom Med· February 2025

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Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Lottie D Morison, Milou G P Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Di Milnes

J Med Genet· May 2024

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Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Emma Seed, Fallon Noon, Di Milnes, Tony Roscioli, Karl Kristensen

Prenat Diagn· December 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Di Milnes

J Transl Med· April 2023

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Di Milnes

medRxiv· March 2023

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Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Ulrike Lepperdinger, Chloe Angwin, Di Milnes, Glenda Sobey, Neeti Ghali

J Clin Periodontol· December 2022

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Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Dimuthu Alankarage, Annabelle Enriquez, Robert D Steiner, Cathy Raggio, Megan Higgins, Di Milnes

Differentiation· November 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Di Milnes

Genet Med· January 2022

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes

J Med Genet· September 2021

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Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Di Milnes

Front Immunol· November 2020

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Corrigendum: Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Di Milnes

Front Immunol· December 2019

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