CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard, Merel, Linssen, Margot M.L., Vijfhuizen, Linda, van der Wielen, Michiel J.R., Vollebregt, M.J. (Ellen), Breuning, Martijn H., Kriek, Marjolein, van Haeringen, Arie, den Dunnen, Johan T., Hoischen, Alexander, Clayton-Smith, Jill, de Vries, Bert B.A., Hennekam, Raoul C.M., van Belzen, Martine J., Almureikhi, Mariam, Baban, Anwar, Barbosa, Mafalda, Ben-Omran, Tawfeg, Berry, Katherine, Bigoni, Stefania, Boute, Odile, Brueton, Louise, van der Burgt, Ineke, Canham, Natalie, Chandler, Kate E., Chrzanowska, Krystyna, Collins, Amanda L., de Toni, Teresa, Dean, John, den Hollander, Nicolette S., Flore, Leigh Anne, Fryer, Alan, Gardham, Alice, Graham Jr, John M., Harrison, Victoria, Horn, Denise, Jongmans, Marjolijn C., Josifova, Dragana, Kant, Sarina G., Kapoor, Seema, Kingston, Helen, Kini, Usha, Kleefstra, Tjitske, Krajewska-Walasek, Małgorzata, Kramer, Nancy, Maas, Saskia M., Maciel, Patricia, Mancini, Grazia M.S., Maystadt, Isabelle, McKee, Shane, Milunsky, Jeff M., Nampoothiri, Sheela, Newbury-Ecob, Ruth, Nikkel, Sarah M., Parker, Michael J., Pérez-Jurado, Luis A., Robertson, Stephen P., Rooryck, Caroline, Shears, Debbie, Silengo, Margherita, Singh, Ankur, Smigiel, Robert, Soares, Gabriela, Splitt, Miranda, Stewart, Helen, Sweeney, Elizabeth, Tassabehji, May, Tuysuz, Beyhan, van Eerde, Albertien M., Vincent-Delorme, Catherine, Wilson, Louise C., Yesil, Gozde
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Journal Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
LYNCH, Sally Ann, FOULDS, Nicola, COSTIGAN, Colm, LAM, Wayne, FITZPATRICK, David R, REGAN, Regina, ENNIS, Sean, SHARKEY, Freddie, THURESSON, Ann-Charlotte, COLLINS, Amanda L, ANNEREN, Göran, HEDBERG, Bernt-Oves, DELANEY, Carol A, IREMONGER, James, MURRAY, Caroline M, CROLLA, John A
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases
Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Journal Article
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region
Kirk, Beth, Kharbanda, Mira, Bateman, Mark S, Hunt, David, Taylor, Emma-Jane, Collins, Amanda L, Bunyan, David J, Collinson, Morag N, Russell, Louisa M, Bowell, Sarah, Barber, John C K
Published in Cytogenetic and genome research (01.07.2020)
Published in Cytogenetic and genome research (01.07.2020)
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Journal Article
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
Bateman, Mark S., Collinson, Morag N., Bunyan, David J., Collins, Amanda L., Duncan, Philippa, Firth, Rachel, Harrison, Victoria, Homfray, Tessa, Huang, Shuwen, Kirk, Beth, Lachlan, Katherine L., Maloney, Viv K., Barber, John C. K.
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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Journal Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
Lynch, Sally Ann, Foulds, Nicola, Thuresson, Ann-Charlotte, Collins, Amanda L, Annerén, Göran, Hedberg, Bernt-Oves, Delaney, Carol A, Iremonger, James, Murray, Caroline M, Crolla, John A, Costigan, Colm, Lam, Wayne, Fitzpatrick, David R, Regan, Regina, Ennis, Sean, Sharkey, Freddie
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Journal Article
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome
Balasubramanian, Meena, Collins, Amanda L
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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Journal Article
Inherited 2q23.1 microdeletions involving the MBD5 locus
Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
Published in Molecular genetics & genomic medicine (01.09.2017)
Published in Molecular genetics & genomic medicine (01.09.2017)
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Journal Article
A 117-kb Microdeletion Removing HOXD9– HOXD13 and EVX2 Causes Synpolydactyly
Goodman, Frances R., Majewski, Frank, Collins, Amanda L., Scambler, Peter J.
Published in American journal of human genetics (01.02.2002)
Published in American journal of human genetics (01.02.2002)
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Journal Article
Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?
Barber, John C.K., Huang, Shuwen, Bateman, Mark S., Collins, Amanda L.
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Journal Article
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene
BUNYAN, David J, SKINNER, Alison C, ASHTON, Emma J, SILLIBOURNE, Julie, BROWN, Tom, COLLINS, Amanda L, CROSS, Nicholas C. P, HARVEY, John F, ROBINSON, David O
Published in Molecular biotechnology (01.02.2007)
Published in Molecular biotechnology (01.02.2007)
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Journal Article
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Journal Article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases: BERNKOPF et al
Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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Journal Article
Inherited 2q23.1 microdeletions involving the MBD 5 locus
Tadros, Shereen, Rubin, Wang, Waters, Jonathan J, Waterman, Christine, Collins, Amanda L, Collinson, Morag N, Ahn, Joo W, Josifova, Dragana, Ravi Chetan, Kumar, Ajith
Published in Molecular genetics & genomic medicine (01.09.2017)
Published in Molecular genetics & genomic medicine (01.09.2017)
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Customer Win‐Back: How to Recapture Lost Customers – and Keep Them Loyal
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Book Review