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

by Devito, Liani G., Healy, Lyn, Mohammed, Shehla, Guillemot, Francois, Dias, Cristina
Published in Stem Cell Res (2021)

Clinical utility gene card for: Vici Syndrome

by Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz
Published 2014

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

by Ahn, Joo Wook, Mann, Kathy, Walsh, Sally, Shehab, Marwa, Hoang, Sarah, Docherty, Zoe, Mohammed, Shehla, Mackie Ogilvie, Caroline
Published 2010

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

by Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.
Published 2010

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

by Ahn, Joo Wook, Bint, Susan, Irving, Melita D., Kyle, Phillipa M., Akolekar, Ranjit, Mohammed, Shehla N., Mackie Ogilvie, Caroline
Published 2014

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

by Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Published 2010

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

by 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
Published 2009

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

by 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
Published in J Clin Invest (2015)

Clinical expression of Menkes disease in females with normal karyotype

by Møller Lisbeth, 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
Published 2012-01-01

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

by 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.
Published in J Am Soc Nephrol (2017)

Clinical expression of Menkes disease in females with normal karyotype

by 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
Published 2012

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

by 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
Published 2012

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

by Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Published in Am J Med Genet A (2015)

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

by 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
Published in J Bone Miner Res (2018)

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

by 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
Published 2011

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

by 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
Published in Am J Hum Genet (2017)

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

by 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.
Published in Proc Natl Acad Sci U S A (2016)

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

by 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
Published 2013

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

by 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.
Published in Genet Med (2017)

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

by 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
Published 2012