Download Dr Shehla Mohammed`s publications

Dr Shehla Mohammed’s publications
1. Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M,
Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK,
Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P,
Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO. Reduced dosage
of ERF causes complex craniosynostosis in humans and mice and links ERK1/2
signaling to regulation of osteogenesis. Nat Genet. 2013 Mar;45(3):308-13.
2. Kwong Q, Malhotra R, Morley AM, Mohammed S, Norris JH. Use of dermal filler to
improve exposure keratopathy in a patient with restrictive dermopathy. Orbit. 2013
Feb;32(1):70-2.
3. Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P,
Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I,
Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Louise Izatt, Flores R, Galán E,
Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis
CL, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Reardon SP,
Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, SchuursHoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C,
Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman
JA, Merla G, Antonarakis SE, Hoischen A. MLL2 mutation detection in 86 patients with
Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013 Jan 16.
4. Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S,
Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten
Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM,
Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel
HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Recessive
mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective
autophagy. Nat Genet. 2013 Jan;45(1):83-7
5. Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B,
Hirschhorn J, Pfotenhauer J, Phillips JA 3rd, Mohammed S, Ogilvie C, Crolla J, Mortier G,
Menten B. 17q24.2 microdeletions: a new syndromal entity with intellectual disability,
truncal obesity, mood swings and hallucinations. Eur J Hum Genet. 2012
May;20(5):534-9.
6. Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ,
Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP,
Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ,
Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E,
Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J,
Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K,
Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. How genetically
heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and
analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2012
Apr;20(4):381-8.
7. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J,
Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo
R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee
WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G,
Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski
P, Fu YH, Ptáček LJ. Mutations in the gene PRRT2 cause paroxysmal kinesigenic
dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26;1(1):2-12.
8. Møller LB, Lenartowicz M, Zabot MT, Josiane A, Burglen L, Bennett C, Riconda D, Fisher
R, Janssens S, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG. Clinical
expression of Menkes disease in females with normal karyotype. Orphanet J Rare
Dis. 2012 Jan 22;7:6.
9. Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T,
Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, KrajewskaWalasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black
G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene
KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J
Hum Genet. 2011 Nov 11;89(5):675-81.
10. Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, Izatt L. Unexpected findings in cancer
predisposition genes detected by array comparative genomic hybridisation: what are
the issues? J Med Genet. 2011 Aug;48(8):535-9.
11. Hoang S, Ahn J, Mann K, Bint S, Mansour S, Homfray T, Mohammed S, Ogilvie
CM. Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases
using an oligonucleotide array CGH platform. Eur J Med Genet. 2011 MarApr;54(2):121-9.
12. Millar DS, Tysoe C, Lazarou LP, Pilz DT, Mohammed S, Anderson K, Chuzhanova N,
Cooper DN, Butler R. 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. Hum Genomics. 2010 Aug;4(6):384-93.
13. Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN, Oakey
RJ. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal
methylation elicits the characteristic features of complete patUPD14. Am J Med
Genet A. 2010 Aug;152A(8):1942-50.
14. Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D,
Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG,
Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Mutation of the RAD51C
gene in a Fanconi anemia-like disorder. Nat Genet. 2010 May;42(5):406-9.
15. Ahn JW, Mann K, Walsh S, Shehab M, Hoang S, Docherty Z, Mohammed S, Mackie
Ogilvie C. Validation and implementation of array comparative genomic hybridisation
as a first line test in place of postnatal karyotyping for genome imbalance. Mol
Cytogenet. 2010 Apr 15;3:9.
16. McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M,
Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C,
Raiman J, Jungbluth H. Vici syndrome associated with sensorineural hearing loss and
evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet A. 2010
Mar;152A(3):741-7.
17. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C,
Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson
D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A,
Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill
G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers
HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S,
Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M,
Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C,
Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA,
Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding
exons in mental retardation. Nat Genet. 2009 May;41(5):535-43.
18. Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige
E. Interfamilial phenotypic heterogeneity in SMARD1. Neuromuscul Disord. 2009
Mar;19(3):193-5.
19. Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular
Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird
G, Monaco AP. Mapping of partially overlapping de novo deletions across an autism
susceptibility region (AUTS5) in two unrelated individuals affected by developmental
delays with communication impairment. Am J Med Genet A. 2009 Feb
15;149A(4):588-97.
20. Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye
U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J. A
clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo
syndrome. Clin Genet. 2008 Nov;74(5):434-44.
21. May PC, Ogilvie CM, Mohammed S, Docherty Z, Hall RP. An Evaluation of the
Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping
System. J Assoc Genet Technol. 2008;34(4):177-87.
22. Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton
DJ, Harper JI. Hutchinson-Gilford progeria syndrome: clinical findings in three
patients carrying the G608G mutation in LMNA and review of the literature. Br J
Dermatol. 2007 Jun;156(6):1308-14
23. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D,
Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN,
Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N,
Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome:
window to the etiology of a common cortical malformation. Am J Med Genet A. 2006
Nov 15;140(22):2416-25
24. Mohammed SN, Swan MC, Wall SA, Wilkie AO. Monozygotic twins discordant for
frontonasal malformation. Am J Med Genet A. 2004 Nov 1;130A(4):384-8
25. Seller MJ, Fear C, Kumar A, Mohammed S. Trisomy 16 in a mid-trimester IVF foetus
with multiple abnormalities. Clin Dysmorphol. 2004 Jul;13(3):187-9.
26. Seller MJ, Mazzaschi R, Ogilvie CM, Mohammed S. A trisomy 2 fetus with severe
neural tube defects and other abnormalities. Clin Dysmorphol. 2004 Jan;13(1):25-7.
27. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R,
Reardon W. Mutations at the SALL4 locus on chromosome 20 result in a range of
clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram
syndrome, acro-renal-ocular syndrome, and patients previously reported to
represent thalidomide embryopathy. J Med Genet. 2003 Jul;40(7):473-8.
28. Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L,
Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S,
Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Fourteen novel OPA1
mutations in autosomal dominant optic atrophy including two de novo mutations in
sporadic optic atrophy. Hum Mutat. 2003 Jun;21(6):656.
29. Seller MJ, Mohammed S, Russell J, Ogilvie C. Microdeletion 22q11.2, Kousseff
syndrome and spina bifida. Clin Dysmorphol. 2002 Apr;11(2):113-5
30. Warburton P, Mohammed S, Ogilvie CM. Detection of submicroscopic subtelomeric
chromosome translocations: a new case study.Am J Med Genet. 2000 Mar 6;91(1):515.
31. Abusaad I, Mohammed SN, Ogilvie CM, Ritchie J, Pohl KR, Docherty Z. Clinical
expression of Menkes disease in a girl with X;13 translocation. Am J Med Genet.
1999 Dec 3;87(4):354-9.
32. Greenman J, Mohammed S, Ellis D, Watts S, Scott G, Izatt L, Barnes D, Solomon E,
Hodgson S, Mathew C. Identification of missense and truncating mutations in the
BRCA1 gene in sporadic and familial breast and ovarian cancer. Genes
Chromosomes Cancer. 1998 Mar;21(3):244-9.
33. Camplejohn RS, Perry P, Hodgson SV, Turner G, Williams A, Upton C, MacGeoch C,
Mohammed S, Barnes DM. A possible screening test for inherited p53-related defects
based on the apoptotic response of peripheral blood lymphocytes to DNA
damage. Br J Cancer. 1995 Sep;72(3):654-62.
34. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Chaudary MA, Fentiman IS,
Ponder BA, Eeles RA. Cowden syndrome and Lhermitte-Duclos disease in a family: a
single genetic syndrome with pleiotropy? J Med Genet. 1994 Jun;31(6):458-61.
35. MacGeoch C, Barnes DM, Newton JA, Mohammed S, Hodgson SV, Ng M, Bishop DT,
Spurr NK. p53 protein detected by immunohistochemical staining is not always
mutant. Dis Markers. 1993 Dec;11(5-6):239-50.