Special collections

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels, H Stewart, R C Hennekam, G M Cooper, R Regan, S J L Knight, E E Eichler, J R Vermeesch

Journal of Medical Genetics Apr 2009, 46 (4) 223-232; DOI: 10.1136/jmg.2007.055202
The molecular landscape of ASPM mutations in primary microcephaly
A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, C G Woods

Journal of Medical Genetics Apr 2009, 46 (4) 249-253; DOI: 10.1136/jmg.2008.062380
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, R Hagerman

Journal of Medical Genetics Apr 2009, 46 (4) 266-271; DOI: 10.1136/jmg.2008.063701
Inherited mitochondrial optic neuropathies
P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery

Journal of Medical Genetics Mar 2009, 46 (3) 145-158; DOI: 10.1136/jmg.2007.054270
Investigation of somatic NKX2-5 mutations in congenital heart disease
J M Draus, M A Hauck, M Goetsch, E H Austin, A Tomita-Mitchell, M E Mitchell

Journal of Medical Genetics Feb 2009, 46 (2) 115-122; DOI: 10.1136/jmg.2008.060277
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
A Gregory, B J Polster, S J Hayflick

Journal of Medical Genetics Feb 2009, 46 (2) 73-80; DOI: 10.1136/jmg.2008.061929
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
C Lintas, A M Persico

Journal of Medical Genetics Jan 2009, 46 (1) 1-8; DOI: 10.1136/jmg.2008.060871
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
J Rochette, P Roll, P Szepetowski

Journal of Medical Genetics Dec 2008, 45 (12) 773-779; DOI: 10.1136/jmg.2008.059519
Clinical and molecular aspects of RAS related disorders
E Denayer, Th de Ravel, E Legius

Journal of Medical Genetics Nov 2008, 45 (11) 695-703; DOI: 10.1136/jmg.2007.055772
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
S Faghri, D Tamura, K H Kraemer, J J DiGiovanna

Journal of Medical Genetics Oct 2008, 45 (10) 609-621; DOI: 10.1136/jmg.2008.058743

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