Publications by authors named "Donald Love"

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Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R Love

Clin Genet· November 2025

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Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.
Jessie Poquérusse, Whitney Whitford, Juliet Taylor, Nerine Gregersen, Donald R Love

J Hum Genet· April 2025

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Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.
Idris Mohammed, Senthil Selvaraj, Wesam S Ahmed, Tara Al-Barazenji, Hajar Dauleh, Donald R Love

Int J Mol Sci· November 2024

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Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.
Suzanne M Musgrave, Juliet Taylor, Whitney Whitford, Alexandra Garton, Jessie Poquérusse, Donald R Love

J R Soc N Z· September 2024

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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Donald R Love

BMC Nephrol· April 2024

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Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
Idris Mohammed, Basma Haris, Tara Al-Barazenji, Dhanya Vasudeva, Sara Tomei, Donald R Love

J Clin Endocrinol Metab· November 2023

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of -related mitochondrial disease.
Jessie Poquérusse, Melinda Nolan, David R Thorburn, Johan L K Van Hove, Marisa W Friederich, Donald R Love

JIMD Rep· May 2023

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Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.
Graeme E Glass, Shiyas Mohammedali, Bran Sivakumar, Mitchell A Stotland, Faisal Abdulkader, Donald R Love

BMC Pediatr· December 2022

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Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Donald R Love

J Med Genet· July 2022

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Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.
Alice Theadom, Miriam Rodrigues, Annemarei Ranta, Gemma Poke, Donald Love

Qual Life Res· June 2022

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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
Andrea Guennoun, Salim Bougarn, Taushif Khan, Rafah Mackeh, Mahbuba Rahman, Donald R Love

J Clin Immunol· November 2021

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Adult attention deficit hyperactivity disorder clinic: An interprofessional collaboration.
Tyler Casey, Corinne Johnson, Donald Love

J Am Pharm Assoc (2003)· June 2021

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Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.
Annika Winbo, Nikki Earle, Luciana Marcondes, Jackie Crawford, Debra O Prosser, Donald R Love

Heart Rhythm· August 2020

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Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non-small-cell lung cancer in New Zealand.
Mark J McKeage, Sandar Tin Tin, Prashannata Khwaounjoo, Karen Sheath, Amanda Dixon-McIver, Donald R Love

Intern Med J· June 2020

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Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
Idris Mohammed, Sara Al-Khawaga, David Bohanna, Abdusamea Shabani, Faiyaz Khan, Donald R Love

Mol Genet Genomic Med· June 2020

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The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Stathis Papatheodorou, Chris Miles, Donald R Love

Eur J Hum Genet· January 2020

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A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Alice Theadom, Miriam Rodrigues, Gemma Poke, Gina O'Grady, Donald Love

Neuroepidemiology· December 2019

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Determination of Pathogenicity of Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.
Angela Brown, Mansour Zamanpoor, Donald R Love, Debra O Prosser

Sultan Qaboos Univ Med J· November 2019

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Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Hariharan Raju, James S Ware, Jonathan R Skinner, Paula L Hedley, Gavin Arno, Donald R Love

BMC Cardiovasc Disord· July 2019

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Observations on the Natural History of Camurati-Engelmann Disease.
Peter Hughes, Ibrahim Hassan, Lorna Que, Patricia Mead, Jessica Heejong Lee, Donald R Love

J Bone Miner Res· May 2019

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Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.
Nikki J Earle, Jackie Crawford, Ian Hayes, Mark I Rees, John French, Donald R Love

Am Heart J· March 2019

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Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
R J McKinlay Gardner, Ian G Crozier, Alex L Binfield, Donald R Love, Klaus Lehnert

Mol Genet Genomic Med· January 2019

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Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.
Kelly M Jones, Gina O'Grady, Miriam J Rodrigues, Anna Ranta, Richard H Roxburgh, Donald R Love

J Neuromuscul Dis· November 2018

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Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Donald Love

PLoS One· July 2018

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Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test.
Phillip Shepherd, Karen L Sheath, Sandar Tin Tin, Prashannata Khwaounjoo, Phyu S Aye, Donald R Love

Oncotarget· November 2017

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