Publications by authors named "Morad Ansari"

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Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Morad Ansari, Mihail Halachev, David Parry, Jose L Campos, Elston N D'Souza

Hum Mutat· July 2025

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Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.
Michael Abbott, Mandy Ryan, Rodolfo Hernández, Lynda McKenzie, Sebastian Heidenreich, Morad Ansari

Eur J Health Econ· April 2025

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Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
T Michael Yates, Morad Ansari, Louise Thompson, Sarah E Hunt, Elena Cibrian Uhalte

Genome Med· November 2024

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Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Danielle J Leighton, Morad Ansari, Judith Newton, Elaine Cleary, Laura Stephenson

J Neurol· August 2024

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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Morad Ansari

Brain· May 2024

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao

HGG Adv· April 2024

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao

medRxiv· September 2023

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Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Danielle J Leighton, Morad Ansari, Judith Newton, David Parry, Elaine Cleary

J Neurol· March 2023

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Lynne J Hocking, Claire Andrews, Christine Armstrong, Morad Ansari, David Baty

Eur J Hum Genet· February 2023

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari

PLoS One· November 2022

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A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, Holly A Black, Francisco J Sanchez-Luque, Morad Ansari

PLoS Biol· December 2020

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polyadenylation signal variants cause syndromic microphthalmia.
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari

J Med Genet· July 2019

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes

Nat Genet· July 2019

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes

Nat Genet· May 2018

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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes

Nat Genet· March 2018

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Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Joanna Moss, Jessica Penhallow, Morad Ansari, Stephanie Barton, David Bourn

Am J Med Genet A· June 2017

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh

Eur J Hum Genet· May 2017

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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Morad Ansari

Nat Genet· May 2017

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey

PLoS One· February 2017

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Morad Ansari

Nat Genet· February 2017

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth

Nat Genet· November 2015

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti

Hum Mutat· April 2015

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge

J Med Genet· October 2014

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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.
Morad Ansari, Jacqueline K Rainger, Jennie E Murray, Isabel Hanson, Helen V Firth

Eur J Med Genet· October 2014

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Variant detection sensitivity and biases in whole genome and exome sequencing.
Alison M Meynert, Morad Ansari, David R FitzPatrick, Martin S Taylor

BMC Bioinformatics· July 2014

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