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Freddie H. Sharkey

Western General Hospital

16

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508

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

2014 European Journal of Human Genetics
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Nasal speech in patients with 12q15 microdeletions

2012 European Journal of Human Genetics
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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

2012 Clinical Dysmorphology
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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

2011 European Journal of Human Genetics
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

2011 European Journal of Human Genetics
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Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

2010 Molecular Syndromology
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The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

2010 Journal of Medical Genetics
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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

2009 American Journal of Human Genetics
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17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

2009 Cytogenetic and Genome Research
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Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

2006 Human Molecular Genetics
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Citations (183)