Publications by authors named "Kathryn Friend"

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Analysis of menstrual effluent uncovers endometriosis-specific cell populations and impaired cellular pathway processes.
Taylor R Wilson, Stephanie A Morris, Paul L Deford, Andrea Starostanko, Susan Kasper, Kathryn Friend

bioRxiv· August 2025

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Kathryn Friend

J Clin Invest· January 2024

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Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Kathryn Friend

Sci Adv· May 2023

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Emma Tudini, James Andrews, David M Lawrence, Sarah L King-Smith, Naomi Baker, Kathryn Friend

Am J Hum Genet· November 2022

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A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
Alice P Rogers, Kathryn Friend, Lesley Rawlings, Christopher P Barnett

Am J Med Genet A· August 2021

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Kathryn Friend

Nat Commun· October 2020

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Kathryn Friend

Nat Commun· October 2020

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Kathryn Friend

Mol Psychiatry· November 2019

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Kathryn L Friend

Nat Commun· October 2019

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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Wujood Khayat, Anna Hackett, Marie Shaw, Alina Ilie, Tracy Dudding-Byth, Kathryn L Friend

Hum Mol Genet· February 2019

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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Kathryn Friend

Nat Neurosci· August 2017

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Kathryn Friend

Nat Genet· April 2017

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A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Raman Kumar, Thuong Ha, Duyen Pham, Marie Shaw, Marie Mangelsdorf, Kathryn L Friend

Eur J Hum Genet· November 2016

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Kathryn Friend

Hum Mutat· December 2015

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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Raman Kumar, Mark A Corbett, Bregje W M Van Bon, Alison Gardner, Joshua A Woenig, Kathryn Friend

Hum Mol Genet· December 2015

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Ghayda M Mirzaa, Valerio Conti, Andrew E Timms, Christopher D Smyser, Sarah Ahmed, Kathryn Friend

Lancet Neurol· December 2015

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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Raman Kumar, Mark A Corbett, Bregje W M van Bon, Joshua A Woenig, Lloyd Weir, Kathryn L Friend

Am J Hum Genet· August 2015

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Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
Dylan A Mordaunt, Alexandra Jolley, Shanti Balasubramaniam, David R Thorburn, Hayley S Mountford, Kathryn Friend

Am J Med Genet A· June 2015

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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Isabel Marques, Maria João Sá, Gabriela Soares, Maria do Céu Mota, Carla Pinheiro, Kathryn Friend

Mol Genet Genomic Med· May 2015

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Kathryn L Friend

J Med Genet· April 2015

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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Kathryn L Friend

Nat Genet· October 2014

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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Jillian Nicholl, Wendy Waters, John C Mulley, Shanna Suwalski, Sue Brown, Kathryn Friend

Pathology· January 2014

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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Gianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, Kyle S Yau, Nina Kresoje, Kathryn Friend

Neuromuscul Disord· February 2013

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Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Kathryn Friend

Am J Med Genet B Neuropsychiatr Genet· January 2013

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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Kathryn Friend

Eur J Hum Genet· July 2012

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