A melanoma-associated germline mutation in exon 1β inactivates p14ARF von RIZOS, Helen, PUIG, Susana, BADENAS, Celia, MALVEHY, Josep, DARMANIAN, Artur P, JIMENEZ, Loli, MILA, Montserrat, KEFFORD, Richard F

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Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders von White, Rose, Ho, Gladys, Schmidt, Swetlana, Scheffer, Ingrid E., Fischer, Alexandra, Yendle, Simone C., Bienvenu, Thierry, Nectoux, Juliette, Ellaway, Carolyn J., Darmanian, Artur, Tong, XingZhang, Cloosterman, Desiree, Bennetts, Bruce, Kalra, Veena, Fullston, Tod, Gecz, Jozef, Cox, Timothy C., Christodoulou, John

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SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory von Ngo, Con, Baluyot, Maria, Bennetts, Bruce, Carmichael, Johanna, Clark, Alissa, Darmanian, Artur, Gayagay, Thet, Jones, Luke, Nash, Benjamin, Clark, Melanie, Jose, Ngaire, Robinson, Samantha, St Heaps, Luke, Wright, Dale

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Neuroblastoma Molecular Risk-Stratification of DNA Copy Number and ALK Genotyping via Cell-Free Circulating Tumor DNA Profiling von Kahana-Edwin, Smadar, Cain, Lucy E., McCowage, Geoffrey, Darmanian, Artur, Wright, Dale, Mullins, Anna, Saletta, Federica, Karpelowsky, Jonathan

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Saliva DNA : An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism von Wright, Dale Cameron, Baluyot, Maria Lourdes, Carmichael, Johanna, Darmanian, Artur, Jose, Ngaire, Ngo, Con, Heaps, Luke St, Yendle, Amber, Holman, Katherine, Ziso, Sylvia, Khan, Feroza, Masi, Anne, Silove, Natalie, Eapen, Valsa

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype von Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

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Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities von Wright, Dale, Carey, Louise, Battersby, Siobhan, Nguyen, Thuy, Clarke, Melanie, Nash, Benjamin, Gulesserian, Elee, Cross, Jill, Darmanian, Artur

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Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and wilms' tumorigenesis von ALGAR, Elizabeth M, HEAPS, Luke St, DARMANIAN, Artur, DAGAR, Vinod, PRAWITT, Dirk, PETERS, Greg B, COLLINS, Felicity

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An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub‐bands of gene paucity and pervasive CNV characterize the chromosome anomalies von Daniel, Art, Darmanian, Artur, Peters, Greg, Goodwin, Linda, Hort, Jason R.

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Mutations in the INK4a/ARF Melanoma Susceptibility Locus Functionally Impair p14ARF von Rizos, Helen, Darmanian, Artur P., Holland, Elizabeth A., Mann, Graham J., Kefford, Richard F.

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Fibrosarcomatous variant of dermatofibrosarcoma protuberans showing COL1A1-PDGFB gene fusion, detected using a novel and disease-specific RT-PCR protocol von Mahajan, Hema, Sharma, Raghwa, Darmanian, Artur, Peters, Greg B.

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Issues arising from the prenatal diagnosis of some rare trisomy mosaics-the importance of cryptic fetal mosaicism von Daniel, Art, Wu, Zhanhe, Darmanian, Artur, Malafiej, Paul, Tembe, Varsha, Peters, Greg, Kennedy, Craig, Adès, Lesley

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Three different origins for apparent triploid/diploid mosaics von Daniel, Art, Wu, Zhanhe, Darmanian, Artur, Collins, Felicity, Jackson, Julianne

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Diagnosis of human sub-telomeric chromosomal deletions by Microarray von Darmanian, Artur Pavlovich

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Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances von Daniel, Art, Baker, Elizabeth, Chia, Nicole, Haan, Eric, Malafiej, Paul, Hinton, Lyn, Clarke, Nigel, Adès, Lesley, Darmanian, Artur, Callen, David

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A melanoma-associated germline mutation in exon 1[beta] inactivates p14ARF von Rizos, Helen, Puig, Susana, Badenas, Cèlia, Malvehy, Josep, Darmanian, Artur P, Jiménez, Loli, Milà, Montserrat, Kefford, Richard F

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Fibrosarcomatous variant of dermatofibrosarcoma protuberans showing COL1A1-PDGFB gene fusion, detected using a novel and disease-specific RT-PCR protocol von Mahajan, Hema, Sharma, Raghwa, Darmanian, Artur, Peters, Greg B

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An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies von Daniel, Art, Darmanian, Artur, Peters, Greg, Goodwin, Linda, Hort, Jason R.

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