Publications by authors named "Rodger Palmer"

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Rodger Palmer

J Med Genet· May 2016

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Intellectual disability, unusual facial morphology and hand anomalies in sibs.
Sérgio B Sousa, Margarida Venâncio, Estelle Chanudet, Rodger Palmer, Lina Ramos

Am J Med Genet A· October 2013

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Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Veronica A Kinsler, Anna C Thomas, Miho Ishida, Neil W Bulstrode, Sam Loughlin, Rodger Palmer

J Invest Dermatol· September 2013

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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Christopher T Gordon, Alice Vuillot, Sandrine Marlin, Erica Gerkes, Alex Henderson, Rodger Palmer

J Med Genet· March 2013

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Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Maja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, Anirban Saha, Jose Bras, Rodger Palmer

Mov Disord· December 2012

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The idic(15) syndrome: expanding the phenotype.
Elizabeth Caruana Galizia, Rodger Palmer, Jonathan J Waters, Matthias J Koepp, Raoul C M Hennekam

Am J Med Genet A· June 2012

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Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.
Elizabeth C Galizia, Maithili Srikantha, Rodger Palmer, Jonathan J Waters, Nicholas Lench

Eur J Med Genet· May 2012

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Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Joanna Kenny, Melissa M Lees, Susan Drury, Angela Barnicoat, William Van't Hoff, Rodger Palmer

Pediatr Nephrol· August 2011

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Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
Kyriaki S Alatzoglou, Daniel Kelberman, Christopher T Cowell, Rodger Palmer, Ivo J P Arnhold

J Clin Endocrinol Metab· April 2011

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Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification.
Maitreyee Deshpande, Joyce Harper, Melissa Holloway, Rodger Palmer, Rubin Wang

Genet Test Mol Biomarkers· June 2010

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MECP2 duplication in a patient with congenital central hypoventilation.
Elga F Belligni, Rodger W Palmer, Raoul C M Hennekam

Am J Med Genet A· June 2010

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Evaluation of the efficacy of constitutional array-based comparative genomic hybridization in the diagnosis of aneuploidy using genomic and amplified DNA.
Niap H Tan, Rodger Palmer, Rubin Wang

J Obstet Gynaecol Res· February 2010

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Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup).
Mieke M van Haelst, Rubin Wang, Piranit N Kantaputra, Rodger Palmer, Philip Beales

Am J Med Genet A· February 2009

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Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma.
Nicola Potter, Aikaterini Karakoula, Kim P Phipps, William Harkness, Richard Hayward, Rodger W Palmer

Neoplasia· August 2008

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SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
Daniel Kelberman, Sandra C P de Castro, Shuwen Huang, John A Crolla, Rodger Palmer

J Clin Endocrinol Metab· May 2008

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Kathryn S Woods, Maria Cundall, James Turton, Karine Rizotti, Ameeta Mehta, Rodger Palmer

Am J Hum Genet· May 2005

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Nicole I Wolf, Erik A Sistermans, Maria Cundall, Grace M Hobson, Angelique P Davis-Williams, Rodger Palmer

Brain· April 2005

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A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.
Katrina Prescott, Kathryn Woodfine, Paula Stubbs, Maurice Super, Bronwyn Kerr, Rodger Palmer

Hum Genet· January 2005

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Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
Karen Woodward, Maria Cundall, Rodger Palmer, Robert Surtees, Robin M Winter

Am J Med Genet A· April 2003

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