Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis

by Renate Marquis-Nicholson, Salim Aftimos, Donald R. Love
Published 2013-02-01

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

by Clare Brookes, Stella Lai, Elaine Doherty, Donald R. Love
Published 2015-05-01

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

by Clare Brookes, Stella Lai, Elaine Doherty, Donald R. Love
Published 2015-05-01

Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions

by Ivone U. S. Leong, Jonathan R. Skinner, Donald R. Love
Published 2014-06-01

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

by Angela Brown, Mansour Zamanpoor, Donald R. Love, Debra O. Prosser
Published 2019-12-01

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

by Roberto L. P. Mazzaschi, Donald R. Love, Ian Hayes, Alice George
Published 2011-01-01

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

by Donald R. Love, Renate Marquis-Nicholson, Jennifer M. Love, Debra Prosser
Published 2013-03-01

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

by Roberto L. Mazzaschi, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love
Published 2013-05-01

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

by Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love
Published 2012-01-01

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

by Adrian Mc Cormack, Juliet Taylor, Nerine Gregersen, Alice M. George, Donald R. Love
Published 2013-01-01

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

by Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George
Published 2014-01-01

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

by Stella Lai, Clare Brooke, Debra O. Prosser, Chuan-Ching Lan, Elaine Doherty, Donald R. Love
Published 2015-02-01

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

by Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George
Published 2014-01-01

Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

by Jonathan R. Skinner, Renate Marquis-Nicholson, Alix Luangpraseuth, Rick Cutfield, Jackie Crawford, Donald R. Love
Published 2014-01-01

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

by Stella Lai, Clare Brookes, Debra O. Prosser, Chuan-Ching Lan, Elaine Doherty, Donald R. Love
Published 2015-01-01

In Vivo Testing of MicroRNA-Mediated Gene Knockdown in Zebrafish

by Ivone Un San Leong, Chuan-Ching Lan, Jonathan R. Skinner, Andrew N. Shelling, Donald R. Love
Published 2012-01-01

A Rare Chromosome 3 Imbalance and Its Clinical Implications

by Karen Sims, Roberto L. P. Mazzaschi, Emilie Payne, Ian Hayes, Donald R. Love, Alice M. George
Published 2012-01-01

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

by Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love
Published 2013-05-01

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

by Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love
Published 2015-01-01

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

by Idris Mohammed, Sara Al‐Khawaga, David Bohanna, Abdusamea Shabani, Faiyaz Khan, Donald R. Love, Zafar Nawaz, Khalid Hussain
Published 2020-06-01