CytoSure array publications

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Authors: Cynthia J. Curry et al.

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Correction of unexpected distributions of P values from analysis of whole genome arrays by rectifying violation of statistical assumptions

Authors: Sheila J. Barton, Sarah R. Crozier, Karen A. Lillycrop, Keith M. Godfrey & Hazel M. Inskip

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Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9

Authors: Vui King Vincent-Chong et al

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Molecular and clinical delineation of the 17q22 microdeletion phenotype

Authors: Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniene, Samantha J. L. Knight, Ana C. V. Krepischi, Agneta Nordenskjöld, Susan M. Price, Carla Rosenberg, Peter D. Turnpenny, Angela M. Vianna-Morgante & Ann Nordgren

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Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Authors: K. Kiiski, L. Laari, V.-L. Lehtokari, M. Lunkka-Hytönen, C. Angelini, R. Petty, P. Hackman, C. Wallgren-Pettersson, & K. Pelin

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Oculocerebral Hypopigmentation Syndrome maps to chromosome 3q27.1q29

Authors: E. Chabchoub, O. Cogulu, B. Durmaz, J.R. Vermeesch, F. Ozkinay & J.-P. Fryns

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High frequencies of de novo CNVs in Bipolar Disorder and Schizophrenia

Authors: Dheeraj Malhotra et al

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Severe Hunter Syndrome (Mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)

Authors: Day M. Burruss, Tim C. Wood, Lesby Espinoza, Alka Dwivedi & Kenton R. Holden

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LIS1 duplication: expanding the phenotype

Authors: Jason P. Lockrow, Kenton R. Holden, Alka Dwivedi, Maria G. Matheus & Michael J. Lyons

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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

Authors: Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto, Jonathan D Rollins, Chin-Fu Chen, R. Curtis Rogers, Katy Phelan, Barbara R. DuPont & Julianne S. Collins

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Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

Authors: Arunkanth Ankala, Jordan N. Kohn, Anisha Hegde, Arjun Meka, Chin Lip Hon Ephrem, Syed H. Askree, Shruti Bhide & Madhuri R. Hegde

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X‐linked mental retardation with alacrima and achalasia — Triple A syndrome or a new syndrome?

Authors: Daphna Marom, Adi Albin, Charles Schwartz, Adi Har‐Zahav, Rachel Straussberg, Frank Bartel, Efrat Birk, Dov Inbar & Lina Basel‐Vanagaite

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FOXD1 duplication causes branchial defects and interacts with the TFAP2A gene implicated in the Branchio-Oculo-Facial Syndrome in causing eye effects in zebrafish

Authors: I. Balikova, K. Devriendt, J.-P. Fryns & J.R. Vermeesch

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Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Authors: E. Chabchoub, D. Willekens, J.R. Vermeesch & J.‐P. Fryns

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PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

Authors: E. Vanneste, C. Melotte, T. Voet, C. Robberecht, S. Debrock, A. Pexsters, C. Staessen, C. Tomassetti, E. Legius, T. D'Hooghe & J. R. Vermeesch

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Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

Authors: Lucie Lafay‐Cousin, Eric Payne, Douglas Strother, Judy Chernos, Michael Chan & Francois P. Bernier

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Partial ATRX gene duplication causes ATR‐X syndrome

Authors: Dianne M. Cohn, Roberta A. Pagon, Louanne Hudgins, Charles E. Schwartz, Roger E. Stevenson & Michael J. Friez

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First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome

Authors: Jirair K. Bedoyan, Michael J. Friez, Barbara DuPont & Ayesha Ahmad

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Genomic imbalances associated with mullerian aplasia

Authors: C. Cheroki, A. C. V. Krepischi-Santos, K. Szuhai, V. Brenner, C. A. E. Kim, P. A. Otto & C. Rosenberg

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CytoSure array publications

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Correction of unexpected distributions of P values from analysis of whole genome arrays by rectifying violation of statistical assumptions

Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Oculocerebral Hypopigmentation Syndrome maps to chromosome 3q27.1q29

High frequencies of de novo CNVs in Bipolar Disorder and Schizophrenia

Severe Hunter Syndrome (Mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)

LIS1 duplication: expanding the phenotype

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

X‐linked mental retardation with alacrima and achalasia — Triple A syndrome or a new syndrome?

FOXD1 duplication causes branchial defects and interacts with the TFAP2A gene implicated in the Branchio-Oculo-Facial Syndrome in causing eye effects in zebrafish

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

Partial ATRX gene duplication causes ATR‐X syndrome

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome

Genomic imbalances associated with mullerian aplasia

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