1. 1: Porter KM, Hermann C, Traherne JA, Boyle LH. TAPBPR isoforms exhibit
altered association with MHC class I. Immunology. 2014 Jun;142(2):289-99.
2: Boyle LH, Hermann C, Boname JM, Porter KM, Patel PA, Burr ML, Duncan
LM, Harbour ME, Rhodes DA, Skjødt K, Lehner PJ, Trowsdale J. Tapasin-related
protein TAPBPR is an additional component of the MHC class I presentation
pathway. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3465-70.
3: Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC,
Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP,
Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group.
Genetic defects in human pericentrin are associated with severe insulin
resistance and diabetes.Diabetes. 2011 Mar;60(3):925-35.
4: Kirk J, Porter KM, Parker V, Barroso I, O'Rahilly S, Hendriksz C, Semple RK.
Loss of NPC1 function in a patient with a co-inherited novel insulin
receptormutation does not grossly modify the severity of the associated insulin
resistance. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S227-32.
5: Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM,
Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK,
Topaloglu AK. Hypogonadotropic hypogonadism due to a novel missense
mutation in the first extracellular loop of the neurokinin B receptor. J Clin
Endocrinol Metab. 2009 Oct;94(10):3633-9.
6: Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A,
Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S,
Semple RK. TAC3 and TACR3 mutations in familial hypogonadotropic
hypogonadism reveal a key role for Neurokinin B in the central control of
reproduction. Nat Genet. 2009 Mar;41(3):354-8.
7: Gribble SM, Kalaitzopoulos D, Burford DC, Prigmore E, Selzer RR, Ng BL,
Matthews NS, Porter KM, Curley R, Lindsay SJ, Baptista J, Richmond TA, Carter

2. NP. Ultra-high resolution array painting facilitates breakpoint sequencing. J
Med Genet. 2007 Jan;44(1):51-8.
8: Fiegler H, Geigl JB, Langer S, Rigler D, Porter K, Unger K, Carter NP, Speicher
MR. High resolution array-CGH analysis of single cells. Nucleic Acids Res.
2007;35(3).
9: Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey
O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L,
Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C,
Humphray SJ, Scherer SW, Lee C, Hurles ME, Carter NP. Accurate and reliable
high-throughput detection of copy number variation in the human genome.
Genome Res. 2006 Dec;16(12):1566-74.
10: Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley
R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos
AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter
NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated
with developmental delay and learning disability. Nat Genet. 2006
Sep;38(9):1032-7.
11: Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott
CE……Porter KM.…(et al). The DNA sequence and biological annotation of
human chromosome 1. Nature. 2006 May 18;441(7091):315-21. Erratum
Nature. 2006 Oct 26;443(7114):1013.
12: Fauth C, Gribble SM, Porter KM, Codina-Pascual M, Ng BL, Kraus J, Uhrig S,
Leifheit J, Haaf T, Fiegler H, Carter NP, Speicher MR. Micro-array analyses
decipher exceptional complex familial chromosomal rearrangement. Hum
Genet. 2006 Mar;119(1-2):145-53.

3. 13: Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
M…..Porter KM.... (et al). The DNA sequence of the human X chromosome.
Nature. 2005 Mar 17;434(7031):325-37.
14: Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler
H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA,
Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter NP. The complex nature of
constitutional de novo apparently balanced translocations in patients
presenting with abnormal phenotypes. J Med Genet. 2005 Jan;42(1):8-16.
15: Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L……Porter
K…(et al). The DNA sequence and comparative analysis of human chromosome
10. Nature. 2004 May 27;429(6990):375-81.
16: Humphray SJ, Oliver K, Hunt AR, Plumb RW……Porter KM…..(et al). DNA
sequence and analysis of human chromosome 9. Nature. 2004 May
27;429(6990):369-74.
17: Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare
DM.....Porter KM….(et al). The DNA sequence and analysis of human
chromosome 13. Nature. 2004 Apr 1;428(6982):522-8.
18: Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L….Porter
KM…(et al). The DNA sequence and analysis of human chromosome 6. Nature.
2003 Oct 23;425(6960):805-11..
19: Fiegler H, Gribble SM, Burford DC, Carr P, Prigmore E, Porter KM, Clegg S,
Crolla JA, Dennis NR, Jacobs P, Carter NP. Array painting: a method for the
rapid analysis of aberrant chromosomes using DNA microarrays. J Med Genet.
2003 Sep;40(9):664-70.

4. 20: Bentley DR, Deloukas P, Dunham A, French L, Gregory SG, Humphray SJ,
Mungall AJ, Ross MT, Carter NP……Porter KM….(et al). The physical maps for
sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Nature. 2001 Feb
15;409(6822):942-3.