C. Mercer

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

N. Carter, V. Maloney, J. Crolla, 2008, American journal of human genetics.

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH

V. Maloney, C. Mercer, J. Barber, 2009, Cytogenetic and Genome Research.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Rare variants in NR2F2 cause congenital heart defects in humans.

Marc Gewillig, Matthew E Hurles, Reiner Siebert, 2014, American journal of human genetics.

A case of trisomy 12 mosaicism presenting antenatally with fetal cardiomyopathy

C. Mercer, D. Howe, R. Parasuraman, 2011, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

C. Mercer, N. Brunetti‐Pierri, M. Lindsay, 2022, American journal of medical genetics. Part A.

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

N. de Leeuw, C. Mercer, J. Barber, 2011, American journal of medical genetics. Part A.

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Shuwen Huang, C. Mercer, N. S. Thomas, 2013, European journal of medical genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Structural Heart Disease: Genetic Influences

C. Mercer, D. Wilson, 2019, Fetal Therapy.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

D. Baralle, C. Mercer, S. Mehta, 2016, Journal of Medical Genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine

R. Eeles, Z. Kote-Jarai, D. Neal, 2010, PloS one.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

C. Mercer, E. Seaby, R. Pengelly, 2017, Front. Pediatr..

Unexpected findings in a child with atypical HUS : an example of how genomics is changing the clinical diagnostic paradigm

C. Mercer, E. Seaby, R. Pengelly, 2022 .

Chromosome 5q33 deletions associated with congenital heart defects

C. Mercer, S. Lalani, D. Scott, 2016, American journal of medical genetics. Part A.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

C. Mercer, R. Gilbert, N. Foulds, 2006, Clinical dysmorphology.

Expanding the phenotypic spectrum of Chromosome16p13.11 microduplication: A multicentric analysis of 206 patients.

C. Mercer, R. McGowan, J. Carmichael, 2023, European journal of medical genetics.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

G. J. Swaminathan, M. Hurles, R. Siebert, 2016, American journal of human genetics.

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA

C. Mercer, I. Temple, S. Ennis, 2017, Circulation. Cardiovascular genetics.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

Katherine M. Tucker, L. Kiemeney, H. Grönberg, 2011, BJU international.

OTX2 mutations contribute to the otocephaly-dysgnathia complex

C. Mercer, E. Jabs, N. Katsanis, 2012, Journal of Medical Genetics.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3

C. Mercer, F. Shawkat, A. Lotery, 2009, Eye.