F. Sharkey

发表

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

J. Tolmie, A. Jackson, E. Maher, 2010, Cytogenetic and Genome Research.

Characterization of minority HIV-1 drug resistant variants in the United Kingdom following the verification of a deep sequencing-based HIV-1 genotyping and tropism assay

D. Winner, M. Quiñones-Mateu, N. Silver, 2018, AIDS Research and Therapy.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29

S. Scherer, M. Shago, H. Tanke, 2016 .

MINIREVIEW Detection and Quantiﬁcation of Gene Expression in Environmental Bacteriology

I. Banat, R. Marchant, F. Sharkey, 2004 .

Quantitative Effects of Carbohydrates and Aromatic Amino Acids on Clostridium botulinum Toxin Gene Expression Using a Rapid Competitive RT/PCR Assay

J. Dooley, F. Sharkey, R. Haylock, 2005, Journal of Molecular Microbiology and Biotechnology.

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

Colm R. Breathnach, C. McMahon, D. Betts, 2015, American journal of medical genetics. Part A.

A rapid and effective method of extracting fully intact RNA from thermophilic geobacilli that is suitable for gene expression analysis

I. Banat, R. Marchant, F. Sharkey, 2004, Extremophiles.

Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

G. Annéren, S. Lynch, E. Stattin, 2010, Molecular Syndromology.

Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR.

F. Sharkey, R. Haylock, Spiros I Markos, 2004, FEMS microbiology letters.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Chromosome analysis: what and when to request

D. Fitzpatrick, F. Sharkey, E. Maher, 2005, Archives of Disease in Childhood.

Detection and Quantification of Gene Expression in Environmental Bacteriology

I. Banat, R. Marchant, F. Sharkey, 2004, Applied and Environmental Microbiology.

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

N. Tommerup, T. Liehr, M. Bak, 2013, European Journal of Human Genetics.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

N. Spinner, L. Gaunt, Yiping Shen, 2010, European journal of medical genetics.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

N. Carter, D. Fitzpatrick, J. Murray, 2012, Clinical Dysmorphology.

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

S. Scherer, A. C. Lionel, C. Marshall, 2009, Cytogenetic and Genome Research.

The degradation of n-hexadecane in soil by thermophilic geobacilli.

I. Banat, R. Marchant, T. Rahman, 2006, FEMS microbiology ecology.

Nasal speech in patients with 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.