Multiplex allele-specific target amplification based on PCR suppression

по Broude, Natalia E., Zhang, Lingang, Woodward, Karen, Englert, David, Cantor, Charles R.
Опубликовано 2001

DNA microarrays with stem–loop DNA probes: preparation and applications

по Broude, Natalia E., Woodward, Karen, Cavallo, Robert, Cantor, Charles R., Englert, David
Опубликовано 2001

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

по Dhami, Pawandeep, Coffey, Alison J., Abbs, Stephen, Vermeesch, Joris R., Dumanski, Jan P., Woodward, Karen J., Andrews, Robert M., Langford, Cordelia, Vetrie, David
Опубликовано 2005

A review of structural brain abnormalities in Pallister‐Killian syndrome

по Poulton, Cathryn, Baynam, Gareth, Yates, Clarissa, Alinejad‐Rokny, Hamid, Williams, Simon, Wright, Helen, Woodward, Karen J., Sivamoorthy, Soruba, Peverall, Joanne, Shipman, Peter, Ravine, David, Beilby, John, Heng, Julian Ik‐Tsen
Опубликовано в: Mol Genet Genomic Med (2017)

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

по Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R., Hijazi, Hadia, Grochowski, Christopher M., Gu, Shen, Seeman, Pavel, Woodward, Karen J., Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Опубликовано в: Genome Med (2019)

Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

по Hodes, M. E., Woodward, Karen, Spinner, Nancy B., Emanuel, Beverly S., Enrico-Simon, Agnes, Kamholz, John, Stambolian, Dwight, Zackai, Elaine H., Pratt, Victoria M., Thomas, I. T., Crandall, Kerry, Dlouhy, Stephen R., Malcolm, Sue
Опубликовано 2000

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

по Singh, Ram, Cohen, Ana S.A., Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A., Azmanov, Dimitar N., Woodward, Karen J., Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A., Jabs, Ethylin Wang
Опубликовано в: Cold Spring Harb Mol Case Stud (2021)

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

по Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M. E., Malcolm, Sue, Hobson, Grace M.
Опубликовано 2005

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

по Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef
Опубликовано в: NPJ Genom Med (2018)

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

по Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef
Опубликовано в: NPJ Genom Med (2019)

Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

по Woods, Kathryn S., Cundall, Maria, Turton, James, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W. K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., Dattani, Mehul T.
Опубликовано 2005

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

по Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.
Опубликовано в: Mol Genet Genomic Med (2019)