Bilaketaren emaitzak - Mohammed Shehla

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  1. 1
    Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

    Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder nork Devito, Liani G., Healy, Lyn, Mohammed, Shehla, Guillemot, Francois, Dias, Cristina

    Argitaratua 2021
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  2. 2
    Clinical utility gene card for: Vici Syndrome

    Clinical utility gene card for: Vici Syndrome nork Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

    Argitaratua 2014
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  3. 3
    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance nork Ahn, Joo Wook, Mann, Kathy, Walsh, Sally, Shehab, Marwa, Hoang, Sarah, Docherty, Zoe, Mohammed, Shehla, Mackie Ogilvie, Caroline

    Argitaratua 2010
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  4. 4
    Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14

    Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14 nork Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.

    Argitaratua 2010
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  5. 5
    A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

    A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings nork Ahn, Joo Wook, Bint, Susan, Irving, Melita D., Kyle, Phillipa M., Akolekar, Ranjit, Mohammed, Shehla N., Mackie Ogilvie, Caroline

    Argitaratua 2014
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  6. 6
    An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

    An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene nork Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel

    Argitaratua 2010
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  7. 7
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data nork Daniel A. King, Alejandro Sifrim, Tomas Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju Mehta, Mohammed Shehla, Susan Tomkins, Pradeep Vasudevan, Matthew E. Hurles

    Argitaratua 2017
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  8. 8
    Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication impairment

    Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication i... nork Newbury, Dianne F, Warburton, Pamela C, Wilson, Natalie, Bacchelli, Elena, Carone, Simona, Lamb, Janine A, Maestrini, Elena, Volpi, Emanuela V, Mohammed, Shehla, Baird, Gillian, Monaco, Anthony P

    Argitaratua 2009
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  9. 9
    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita nork Tummala, Hemanth, Walne, Amanda, Collopy, Laura, Cardoso, Shirleny, de la Fuente, Josu, Lawson, Sarah, Powell, James, Cooper, Nicola, Foster, Alison, Mohammed, Shehla, Plagnol, Vincent, Vulliamy, Thomas, Dokal, Inderjeet

    Argitaratua 2015
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  10. 10
    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome nork Forsythe, Elizabeth, Sparks, Kathryn, Best, Sunayna, Borrows, Sarah, Hoskins, Bethan, Sabir, Ataf, Barrett, Timothy, Williams, Denise, Mohammed, Shehla, Goldsmith, David, Milford, David V., Bockenhauer, Detlef, Foggensteiner, Lukas, Beales, Philip L.

    Argitaratua 2017
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  11. 11
    Clinical expression of Menkes disease in females with normal karyotype

    Clinical expression of Menkes disease in females with normal karyotype nork Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G

    Argitaratua 2012
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  12. 12
    17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

    17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations nork Vergult, Sarah, Dauber, Andrew, Chiaie, Barbara Delle, Van Oudenhove, Elke, Simon, Marleen, Rihani, Ali, Loeys, Bart, Hirschhorn, Joel, Pfotenhauer, Jean, Phillips, John A, Mohammed, Shehla, Ogilvie, Caroline, Crolla, John, Mortier, Geert, Menten, Björn

    Argitaratua 2012
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  13. 13
    Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

    Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype nork Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, McInerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, Byers, Peter H

    Argitaratua 2018
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  14. 14
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome nork Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme

    Argitaratua 2011
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  15. 15
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes nork Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth

    Argitaratua 2017
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  16. 16
    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect nork Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, Morley, Ana M. S., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.

    Argitaratua 2016
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  17. 17
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis nork Twigg, Stephen R F, Vorgia, Elena, McGowan, Simon J, Peraki, Ioanna, Fenwick, Aimée L, Sharma, Vikram P, Allegra, Maryline, Zaragkoulias, Andreas, Akha, Elham Sadighi, Knight, Samantha J L, Lord, Helen, Lester, Tracy, Izatt, Louise, Lampe, Anne K, Mohammed, Shehla N, Stewart, Fiona J, Verloes, Alain, Wilson, Louise C, Healy, Chris, Sharpe, Paul T, Hammond, Peter, Hughes, Jim, Taylor, Stephen, Johnson, David, Wall, Steven A, Mavrothalassitis, George, Wilkie, Andrew O M

    Argitaratua 2013
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  18. 18
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 nork Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.

    Argitaratua 2017
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  19. 19
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy nork Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz

    Argitaratua 2012
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  20. 20
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum nork Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C, Donnai, Dian

    Argitaratua 2012
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