Publications by authors named "Harold Cross"

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Joseph S Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A Bearce, Laura Dyer, Harold E Cross

Genet Med· November 2022

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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, Harold E Cross

NPJ Genom Med· January 2022

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Harold E Cross

Brain· December 2021

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Harold E Cross

PLoS Genet· September 2021

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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Olivia J Rickman, Claire G Salter, Adam C Gunning, James Fasham, Nikol Voutsina, Harold E Cross

Parkinsonism Relat Disord· January 2021

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No association between SCN9A and monogenic human epilepsy disorders.
James Fasham, Joseph S Leslie, Jamie W Harrison, James Deline, Katie B Williams, Harold E Cross

PLoS Genet· November 2020

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MNS1 variant associated with situs inversus and male infertility.
Joseph S Leslie, Lettie E Rawlins, Barry A Chioza, Oluwaseun R Olubodun, Claire G Salter, Harold E Cross

Eur J Hum Genet· January 2020

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross

Genome Res· July 2019

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Leroy Cross

PLoS Genet· January 2017

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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Robert N Jinks, Erik G Puffenberger, Emma Baple, Brian Harding, Peter Crino, Harold Cross

Brain· August 2015

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A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
William C Wilson, Hue-Tran Hornig-Do, Francesco Bruni, Jeong Ho Chang, Alexis A Jourdain, Harold E Cross

Hum Mol Genet· December 2014

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Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Emma L Baple, Helen Chambers, Harold E Cross, Heather Fawcett, Yuka Nakazawa

J Clin Invest· July 2014

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Predicting mortality from noncardiac surgery.
Harold Dick Cross

Ann Surg· January 2014

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Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Emma L Baple, Reza Maroofian, Barry A Chioza, Maryam Izadi, Harold E Cross

Am J Hum Genet· January 2014

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Gaurav V Harlalka, Anna Lehman, Barry Chioza, Emma L Baple, Reza Maroofian, Harold Cross

Brain· December 2013

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SLITRK6 mutations cause myopia and deafness in humans and mice.
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, Oscar Diaz-Horta, Harold E Cross

J Clin Invest· May 2013

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Mutation of HERC2 causes developmental delay with Angelman-like features.
Gaurav V Harlalka, Emma L Baple, Harold Cross, Simone Kühnle, Monica Cubillos-Rojas

J Med Genet· February 2013

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Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Andrew H Crosby, Heema Patel, Barry A Chioza, Christos Proukakis, Kay Gurtz, Harold E Cross

Am J Hum Genet· November 2010

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Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
Michael A Simpson, Harold E Cross, Leroy Cross, Mervin Helmuth, Andrew H Crosby

Am J Kidney Dis· May 2009

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Functional roles of bestrophins in ocular epithelia.
Alan D Marmorstein, Harold E Cross, Neal S Peachey

Prog Retin Eye Res· May 2009

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A data flow sheet for managing unstable patients in the emergency department.
Harold Cross

Jt Comm J Qual Patient Saf· April 2006

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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Michael A Simpson, Harold Cross, Christos Proukakis, David A Priestman, David C A Neville

Nat Genet· November 2004

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Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
Christos Proukakis, Harold Cross, Heema Patel, Michael A Patton, Alan Valentine

J Neurol· September 2004

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Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
Michael A Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger

Am J Hum Genet· November 2003

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The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
Francesca D Ciccarelli, Christos Proukakis, Heema Patel, Harold Cross, Shakil Azam

Genomics· April 2003

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