References

134

REFERENCES

Abbasi-Moheb L, Mertel S, Gonsior M et al., Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012 May 4;90(5):847-55.

Adamson B, Smogorzewska A, Sigoillot FD et al., A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response. Nat Cell Biol. 2012 Feb 19; 14(3):318-28.

Aggarwal S, Bogula VR, Mandal K et al., Aetiologic spectrum of mental retardation & developmental delay in India. Indian J Med Res. 2012Sep; 136(3):436-44.

Bargui F, D'Agostino I, Mariani-Kurkdjian P et al., Factors influencing neurological outcome of children with bacterial meningitis at the emergency department. Eur J Pediatr. 2012 Sep; 171(9):1365-71.

Basel-Vanagaite L, Alkelai A, Straussberg R et al., Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity. J Med Genet. 2003 Oct; 40(10):729-32.

Çalışkan M, Chong JX, Uricchio L et al., Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 1; 20(7):1285-9.

Cavaliere F, Dinkel K, Reymann K. Microglia response and P2 receptor participation in oxygen/glucose deprivation-induced cortical damage. Neuroscience. 2005; 136(3):615-23.

Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T. Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006 Jun; 14(6):701-13.

Chun S, Fay JC. Evidence for hitchhiking of deleterious mutations within the human genome. PLoS Genet. 2011 Aug; 7(8):e1002240.

des Portes V, Moraine C. [X-linked mental retardation: a continuous spectrum from syndromic forms towards non-specific forms]. Arch Pediatr. 2004 Jun; 11(6):569-72.

Durkin MS, Khan NZ, Davidson LL et al., Prenatal and postnatal risk factors for mental retardation among children in Bangladesh. Am J Epidemiol. 2000 Dec 1; 152 (11):1024-33.

Ernkvist M, Aase K, Ukomadu C et al., p130-angiomotin associates to actin and controls endothelial cell shape. FEBS J. 2006 May; 273(9):2000-11.

Fan Z, Yamaza T, Lee JS et al., BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. Nat Cell Biol. 2009 Aug; 11(8):1002-9.

Florisson JM, Mathijssen IM, Dumee B et al., Complex craniosynostosis is associated with the 2p15p16.1microdeletion syndrome. Am J Med Genet A. 2013 Feb; 161(2):244-53.

Galinsky VL. YOABS: yet other aligner of biological sequences--an efficient linearly scaling nucleotide aligner. Bioinformatics. 2012 Apr 15; 28(8):1070-7.

Garshasbi M, Hadavi V, Habibi H et al., A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May; 82(5):1158-64.

Goodship J, Gill H, Carter J, Jackson A et al., Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet. 2000 Aug; 67(2):498-503.

Grønskov K, Poole RL, Hahnemann JM et al., Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet. 2011 May; 48(5):308-11.

References

135

Guillén-Navarro E, Glóver-López G. [Monogenic causes of X-linked mental retardation]. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9.

Hamdan FF, Daoud H, Piton A et al., De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry. 2011 May 1; 69(9):898-901.

Hamdan FF, Piton A, Gauthier J et al., Denovo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. AnnNeurol. 2009 Jun; 65(6):748-53.

Hancarova M, Simandlova M, Drabova J et al., Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes. Eur J Med Genet. 2012 Dec 27.

Higgins JJ, Pucilowska J, Lombardi RQ et al., A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology. 2004 Nov 23; 63(10):1927-31.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A. 2005 Dec 15; 139(3):221-6.

Jensen LR, Chen W, Moser B et al., Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. 2011 Jun; 19(6):717-20.

Kahler SG, Fahey MC. Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet. 2003 Feb 15; 117C (1):31-41.

Kerzendorfer C, O'Driscoll M. Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency. DNA Repair (Amst). 2009 Sep 2; 8(9):1139-52.

Koolen DA, Kramer JM, Neveling K et al., Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. NatGenet. 2012 Apr 29; 44(6):639-41.

Lander ES, Linton LM, Birren B et al., Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921. Erratum in: Nature 2001 Aug 2; 412(6846):565. Nature 2001 Jun 7; 411(6838):720.

Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010 Mar 1; 26(5):589-95.

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009 Jul 15; 25(14):1754-60.

Liu Y, McDermott S, Lawson A et al., The relationship between mental retardation and developmental delays in children and the levels of arsenic, mercury and lead in soil samples taken near their mother's residence during pregnancy. Int J Hyg Environ Health. 2010 Mar; 213(2):116-23.

Lose F, Arnold J, Young DB, et al., BCoR-L1 variation and breast cancer. Breast Cancer Res. 2007; 9(4).

Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012 Apr 6; 90(4):579-90.

Marshall CR, Scherer SW. Detection and characterization of copy number variation in autism spectrum disorder. Methods Mol Biol. 2012; 838:115-35.

Martinez FJ, Lee JH, Lee JE et al., Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet. 2012 Jun; 49(6):380-5.

Maulik PK, Mascarenhas MN, Mathers CD et al., Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil. 2011 Mar-Apr; 32(2):419-36.

References

136

McDermott S, Wu J, Cai B et al., Probability of intellectual disability is associated with soil concentrations of arsenic and lead. Chemosphere. 2011 Jun; 84(1):31-8.

Moeschler JB, Shevell M; American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006 Jun; 117(6):2304-16.

Napolitano LM, Meroni G. TRIM family: Pleiotropy and diversification through homomultimer and heteromultimer formation. IUBMB Life. 2012 Jan; 64(1):64-71.

Ng D, Thakker N, Corcoran CM et al., Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004 Apr; 36(4):411-6.

Ogi T, Walker S, Stiff T et al., Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012 Nov; 8(11):e1002945.

Qvist P, Huertas P, Jimeno S et al., CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011 Oct; 7(10):e1002310.

Rafiq MA, Kuss AW, Puettmann L et al., Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 15; 89(1):176-82.

Sabatini C, Bosis S, Semino M et al., Clinical presentation of meningococcal disease in childhood. J Prev Med Hyg. 2012 Jun; 53(2):116-9.

Sanmann JN, Bishay DL, Starr LJ et al., Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. Am J Med Genet A. 2012 Jun; 158A (6):1285-91

Schossig A, Wolf NI, Fischer C et al., Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet. 2012 Apr 6; 90(4):701-7

Sir JH, Barr AR, Nicholas AK et al., A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet. 2011 Oct 9; 43(11):1147-53.

Skeaff SA. Iodine deficiency in pregnancy: the effect on neurodevelopment in the child. Nutrients. 2011 Feb; 3(2):265-73.

Sorensen PL, Gane LW, Yarborough M et al., Newborn screening and cascade testing for FMR1 mutations. Am J Med Genet A. 2013 Jan; 161A (1):59-69.

Strømme P. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev Med Child Neurol. 2000 Feb; 42(2):76-86.

Takeuchi T, Kamasaki H, Yoto Y et al., Investigation of iodine deficient state and iodine supplementation in patients with severe motor and intellectual disabilities on long-term total enteral nutrition. Endocr J. 2012 Aug 31; 59(8):697-703.

Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012 Jul 18; 13(8):565-75.

Willems M, Geneviève D, Borck G et al., Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec; 47(12):797-802.

Abou Jamra R, Philippe O et al., Adaptor protein complex 4 deficiency causes severe Autosomal recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10; 88(6):788-95.

Abou-Zahr F, Bejjani B, Kruyt FA, et al., Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity tomitomycin C in two patients with Seckel syndrome. Am J Med Genet. 1999 Apr23; 83(5):388-91.

References

137

Adnams CM. Perspectives of intellectual disability in South Africa: epidemiology, policy, services for children and adults. Curr Opin Psychiatry.2010 Sep; 23(5):436-40.

Adzhubei IA, Schmidt S, Peshkin L et al., A method and server for predicting damaging missensemutations. Nat Methods. 2010 Apr; 7(4):248-9.

Albers CA, Paul DS, Schulze H et al., Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8Acauses TAR syndrome. Nat Genet. 2012 Feb 26; 44(4):435-9, S1-2.

Aldahmesh MA, Mohamed JY, Alkuraya HS et al., Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011 Dec 9; 89(6):745-50.

Alderton GK, Galbiati L, Griffith E et al., Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nat Cell Biol. 2006 Jul; 8(7):725-33.

Alderton GK, Joenje H, Varon R et al., Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet. 2004 Dec 15; 13(24):3127-38.

Aldinger KA. Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities. Clin Genet. 2009 May; 75(5):425-7.

Al-Dosari MS, Shaheen R, Colak D et al., Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010 Jun; 47(6):411-4.

Ali A, Hassiotis A, Strydom A et al., Self stigma in people with intellectual disabilities and courtesy stigma in family carers: a systematic review. Res DevDisabil. 2012 Nov-Dec; 33(6):2122-40.

Alliman S, Coppinger J, Marcadier J et al., Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. Clin Genet. 2010 Aug; 78(2):162-8.

Almal SH, Padh H. Implications of gene copy-number variation in health and diseases. J Hum Genet. 2012 Jan; 57(1):6-13.

Alyaqoub F, Pyatt RE, Bailes A et al., 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. Am J Med Genet A.2012 Nov; 158A (11):2925-30.

Baralle D. Chromosomal aberrations, subtelomeric defects, and mental retardation. Lancet. 2001 Jul 7; 358(9275):7-8.

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R et al., Deficiency for the ubiquitin ligase UBE3B in ablepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012Dec 7; 91(6):998-1010.

Basel-Vanagaite L. Genetics of autosomal recessive non-syndromic mental retardation: recent advances. Clin Genet. 2007 Sep; 72(3):167-74.

Bauters M, Van Esch H, Friez MJ, et al., Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008Jun; 18(6):847-58.

Ben-Shachar S, Lanpher B, German J et al., Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8.

Bentley DR. Whole-genome re-sequencing. Curr Opin Genet Dev. 2006 Dec; 16(6):545-52.

Bergmann C, Zerres K, Senderek J et al., Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain. 2003 Jul; 126(Pt 7):1537-44.

BIBLIOGRAPHY

References

138

Bicknell LS, Walker S, Klingseisen A et al., Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27; 43(4):350-5.

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al., Extending the phenotype of recurrent rearrangements of16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009 Mar-Jun; 52(2-3):77-87.

Bilder D, Botts EL, Smith KR et al., Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study. J Autism Dev Disord. 2012 Sep 25.

Billuart P, Bienvenu T, Ronce N et al., Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature. 1998 Apr 30; 392(6679):923-6.

Bond J, Roberts E, Mochida GH et al., ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20.

Bond J, Roberts E, Springell K et al., A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005Apr; 37(4):353-5.

Børglum AD, Balslev T, Haagerup A et al., A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet. 2001 Oct; 9(10):753-7. PubMed PMID: 11781686.

Braybrook C, Doudney K, Marçano AC et al., the T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet. 2001Oct; 29(2):179-83.

Braybrook C, Lisgo S, Doudney K et al., Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet. 2002 Oct 15; 11(22):2793-804.

Brosnan J, Healy O. A review of behavioral interventions for the treatment of aggression in individuals with developmental disabilities. Res Dev Disabil. 2011 Mar-Apr; 32(2):437-46.

Brunetti-Pierri N, Berg JS, Scaglia F et al., Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly ormacrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008Dec; 40(12):1466-71.

Buchner G, Montini E, Andolfi G et al., MID2, a homologue of the Opitz syndrome geneMID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet. 1999 Aug; 8(8):1397-407.

Burnside RD, Pasion R, Mikhail FM et al., Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet. 2011 Oct; 130(4):517-28.

Buysse K, Reardon W, Mehta L et al., The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur JMed Genet. 2009 Mar-Jun; 52(2-3):101-7.

Çalışkan M, Chong JX, Uricchio L et al., Exome sequencing reveals a novel mutation for autosomal recessive on-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum MolGenet. 2011 Apr 1; 20(7):1285-9.

Campeau PM, Kim JC, Lu JT et al., Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9.

Carvalho CM, Zhang F, Liu P et al., Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.

References

139

Chabrol B, Girard N, N'Guyen K et al., Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Am J Med Genet A. 2005 Nov 1; 138(4):314-7.

Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nat Rev Genet. 2001 Sep; 2(9):669-80.

Chen JM, Cooper DN, Férec C et al., Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol. 2010 Aug; 20(4):222-33.

Chhabra R, Dubey R, Saini N. Cooperative and individualistic functions of the microRNAs in the miR-23a~27a~24-2 cluster and its implication in human diseases. Mol Cancer. 2010 Sep 3; 9:232.

Clark MJ, Chen R, Lam HY et al., Performance comparison of exome DNA sequencing technologies. NatBiotechnol. 2011 Sep 25; 29(10):908-14.

Clayton-Smith J, Giblin C, Smith RA et al., Familial 3q29microdeletion syndrome providing further evidence of involvement of the 3q29region in bipolar disorder. Clin Dysmorphol. 2010 Jul; 19(3):128-32.

Clayton-Smith J, O'Sullivan J, Daly S et al., Whole-exome-sequencing identifies mutations in histoneacetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011 Nov 11; 89(5):675-81.

Collins SC, Coffee B, Benke PJ et al., Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar5; 5(3):e9476.

Cooper GM, Coe BP, Girirajan S et al., A copy number variation morbidity map of developmental delay. Nat Genet. 2011 Aug 14; 43(9):838-46.

Coppinger J, McDonald-McGinn D, Zackai E et al., Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet. 2009 Apr 15; 18(8):1377-83.

Darnell JC. Defects in translational regulation contributing to human cognitive and behavioral disease. Curr Opin Genet Dev. 2011 Aug; 21(4):465-73.

Darvish H, Esmaeeli-Nieh S, Monajemi GB et al., A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010 Dec; 47(12):823-8.

Dauber A, Lafranchi SH, Maliga Z et al., Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab. 2012 Nov; 97(11):E2140-51.

de Ligt J, Willemsen MH, van Bon BW et al., Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov15; 367(20):1921-9.

de Winter CF, Jansen AA, Evenhuis HM. Physical conditions and challenging behaviour in people with intellectual disability: a systematic review. JIntellect Disabil Res. 2011 Jul; 55(7):675-98.

Denis J, Van den Noortgate W, Maes B. Self-injurious behavior in people with profound intellectual disabilities: a meta-analysis of single-case studies. ResDev Disabil. 2011 May-Jun; 32(3):911-23.

Deth RC. Genomics, intellectual disability, and autism. N Engl J Med. 2012 Jun7; 366(23):2231-2; author reply 2232.

Digilio MC, Bernardini L, Mingarelli R et al., 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. Am J Med Genet A. 2009 Aug; 149A (8):1777-81.

Dixit A, McKee S, Mansour S et al., 7q11.23 Microduplication: a recognizable phenotype. Clin Genet. 2013 Feb; 83(2):155-61.

References

140

Dolcetti A, Silversides CK, Marshall CR et al., 1q21.1 Microduplication expression in adults. Genet Med. 2012 Sep27.

Duker AL, Ballif BC, Bawle EV et al., Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet. 2010Nov; 18(11):1196-201.

Dzhindzhev NS, Yu QD, Weiskopf K et al., Asterless is a scaffold for the onset of centriole assembly. Nature. 2010 Oct 7; 467(7316):714-8.

Einfeld SL, Ellis LA, Emerson E. Comorbidity of intellectual disability and mental disorder in children and adolescents: a systematic review. J Intellect DevDisabil. 2011 Jun; 36(2):137-43.

El-Hattab AW, Fang P, Jin W et al., Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in uteromale lethality with deletions. J Med Genet. 2011 Dec; 48(12):840-50.

Emanuel BS, Saitta SC. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet. 2007 Nov; 8(11):869-83.

Emanuel BS, Shaikh TH. Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet. 2001 Oct; 2(10):791-800.

Ernkvist M, Aase K, Ukomadu C et al., p130-angiomotin associates to actin and controls endothelial cell shape. FEBS J. 2006 May;273(9):2000-11.

Cavaliere F, Nestola V, Amadio S et al., The metabotropic P2Y4 receptor participates in the commitment to differentiation and cell death of human neuroblastoma SH-SY5Ycells. Neurobiol Dis. 2005 Feb; 18(1):100-9.

Fan Y, Linardopoulou E, Friedman C et al., Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes. Genome Res. 2002Nov; 12(11):1651-62.

Fan Y, Newman T, Linardopoulou E et al., Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. Genome Res. 2002 Nov; 12(11):1663-72.

Ferrentino R, Bassi MT, Chitayat D et al., MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Hum Mutat. 2007 Feb;28(2):206-7.

Filges I, Röthlisberger B, Boesch N et al., Interstitial deletion 1q42 in a patient with agenesis of corpuscallosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. Am J Med Genet A. 2010 Apr; 152A (4):987-93.

Friez MJ, Jones JR, Clarkson K et al., Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006 Dec; 118(6):e1687-95.

Froyen G, Belet S, Martinez F et al., Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet. 2012 Aug 10;91(2):252-64.

Froyen G, Corbett M, Vandewalle J et al., Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet.2008 Feb; 82(2):432-43.

Gaitan E, Dunn JT. Epidemiology of iodine deficiency. Trends Endocrinol Metab. 1992 Jul; 3(5):170-5.

Gallagher A, Hallahan B. Fragile X-associated disorders: a clinical overview. J Neurol. 2012 Mar; 259(3):401-13.

References

141

Garshasbi M, Kahrizi K, Hosseini M et al., A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A. 2011 Aug; 155A (8):1976-80.

Gearhart MD, Corcoran CM, Wamstad JA et al., Polycomb group and SCFubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6targets. Mol Cell Biol. 2006 Sep; 26(18):6880-9.

Ghezzi D, Sevrioukova I, Invernizzi F et al., Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am JHum Genet. 2010 Apr 9; 86(4):639-49.

Giannini MJ, Bergmark B, Kreshover S et al., Understanding suicide and disability through three major disabling conditions: Intellectual disability, spinal cord injury, and multiple sclerosis. DisabilHealth J. 2010 Apr; 3(2):74-8.

Gibson WT, Hood RL, Zhan SH et al., Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet.2012 Jan 13; 90(1):110-8.

Gijsbers AC, Schoumans J, Ruivenkamp CA. Interpretation of array comparative genome hybridization data: a major challenge. Cytogenet Genome Res.2011; 135(3-4):222-7.

Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. Eur J Hum Genet. 2012 May; 20(5):490-7.

Girirajan S, Dennis MY, Baker C et al., Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet. 2013 Feb 7; 92(2):221-37.

Goobie S, Knijnenburg J, Fitzpatrick D et al., Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res.2008; 123(1-4):65-78.

Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Autism spectrum disorders and epigenetics. J Am Acad Child Adolesc Psychiatry. 2010 Aug; 49(8):794-809.

Granata A, Savery D, Hazan J et al., Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome. Dev Biol. 2005 Jan 15; 277(2):417-24.

Granata A, Savery D, Hazan J et al., Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome. Dev Biol. 2005 Jan 15;277(2):417-24.Lee S, Lee SH, Chung TG, Kim HJ, Yoon TK, Kwak IP, Park SH, Cha WT, Cho SW,Cha KY. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. J Assist Reprod Genet. 2003 Sep; 20(9):385-9.

Grayton HM, Fernandes C, Rujescu D, Collier DA. Copy number variations inneuro developmental disorders. Prog Neurobiol. 2012 Oct; 99(1):81-91.

Griffith E, Walker S, Martin CA et al., Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008 Feb; 40(2):232-6.

Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008 Nov 3; 1(1):4.

Guernsey DL, Jiang H, Hussin J et al., Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet. 2010 Jul 9; 87(1):40-51.

Gul A, Hassan MJ, Hussain S et al., A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. J Hum Genet. 2006; 51(9):760-4.

Gul A, Hassan MJ, Mahmood S et al., Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. Neurogenetics. 2006 May; 7(2):105-10.

Gustavsson A, Svensson M, Jacobi F et al., Cost of disorders of the brain in Europe 2010. EurNeuropsychopharmacol. 2011 Oct; 21(10):718-79.

References

142

Haldeman-Englert C, Jewett T. 1q21.1 Microdeletion. 2011 Feb 24. In: PagonRA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet].Seattle (WA): University of Washington, Seattle; 1993-. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK52787/

Hamdan FF, Daoud H, Rochefort D et al., De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet. 2010 Nov 12; 87(5):671-8.

Hamdan FF, Gauthier J, Araki Y et al., Excess of denovo deleterious mutations in genes associated with glutamatergic systems innonsyndromic intellectual disability. Am J Hum Genet. 2011 Mar 11; 88(3):306-16.

Hamdan FF, Gauthier J, Spiegelman D et al., Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med. 2009 Feb 5; 360(6):599-605.

Hamdan FF, Piton A, Gauthier J et al., Denovo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. AnnNeurol. 2009 Jun; 65(6):748-53.

Hamdan FF, Saitsu H, Nishiyama K et al., Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability andpontocerebellar atrophy. Eur J Hum Genet. 2012 Jul; 20(7):796-800.

Harvard C, Strong E, Mercier E et al., Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis. 2011Aug 8; 6:54.

Harvey ST, Boer D, Meyer LH, Evans IM. Updating a meta-analysis of intervention research with challenging behaviour: treatment validity and standards of practice. J Intellect Dev Disabil. 2009 Mar; 34(1):67-80.

Hashimoto S, Boissel S, Zarhrate M et al., MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011 Aug 26; 333(6046):1161-3.

Hastings PJ, Ira G, Lupski JR. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet. 2009Jan; 5(1):e1000327.

Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet. 2009 Aug;10(8):551-64.Fan Z, Yamaza T, Lee JS, Yu J, Wang S, Fan G, Shi S, Wang CY. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. Nat Cell Biol. 2009Aug; 11(8):1002-9.

Hayani A, Suarez CR, Molnar Z et al., Acute myeloid leukaemia in a patient with Seckel syndrome. J Med Genet. 1994 Feb; 31(2):148-9.

Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance. Am J Med Genet A. 2003 Dec 15; 123A (3):261-6.

Higgins JJ, Hao J, Kosofsky BE, Rajadhyaksha AM. Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. Neurogenetics. 2008Jul; 9(3):219-23.

Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JP. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology. 2004 Nov 23; 63(10):1927-31.

Hilton E, Johnston J, Whalen S et al., BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur JHum Genet. 2009 Oct; 17(10):1325-35.

Hilton EN, Manson FD, Urquhart JE et al., Left-sided embryonic expression of the BCL-6 co repressor, BCOR, is required for vertebrate laterality determination. Hum Mol Genet. 2007 Jul 15; 16(14):1773-82.

References

143

Hochstenbach R, Poot M, Nijman IJ et al., Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet. 2012 Jul; 20(7):748-53.Marshall CR, Scherer SW. Detection and characterization of copy number variation in autism spectrum disorder. Methods Mol Biol. 2012; 838:115-35.

Hoischen A, van Bon BW, Gilissen C et al., De novo mutations of SETBP1 causeSchinzel-Giedion syndrome. Nat Genet. 2010 Jun; 42(6):483-5.

Hoischen A, van Bon BW, Rodríguez-Santiago B et al., De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun26; 43(8):729-31.

Hoppman-Chaney N, Wain K, Seger P et al., Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3microdeletion syndrome phenotype. Clin Genet. 2012 Jul 9.

Horn D, Chyrek M, Kleier S et al., Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005May; 13(5):563-9.

Hu H, Eggers K, Chen W et al., ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011 Sep 9;89(3):407-14.

Huang L, Jolly LA, Willis-Owen S et al., A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012Oct 5; 91(4):694-702.

Iafrate AJ, Feuk L, Rivera MN et al., Detection of large-scale variation in the human genome. Nat Genet. 2004Sep; 36(9):949-51.

IJdo JW, Baldini A, Ward DC et al., Origin of human chromosome2: an ancestral telomere-telomere fusion. Proc Natl Acad Sci U S A. 1991 Oct15; 88(20):9051-5.

IJdo JW, Baldini A, Wells RA et al., FRA2B is distinct from inverted telomere repeat arrays at 2q13. Genomics. 1992 Apr; 12(4):833-5.

Inlow JK, Restifo LL. Molecular and comparative genetics of mental retardation. Genetics. 2004 Feb; 166(2):835-81.

Ispanovic-Radojkovic V, Stancheva-Popkostadinova V. Perspectives of intellectual disability in Serbia and Bulgaria: epidemiology, policy and services for children and adults. Curr Opin Psychiatry. 2011 Sep; 24(5):419-24.

Jackson AP, Eastwood H, Bell SM et al., Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul; 71(1):136-42.

Jaillard S, Drunat S, Bendavid C et al., Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet. 2010 Mar-Apr; 53(2):66-75.

Jauhari P, Boggula R, Bhave A et al., Aetiology of intellectual disability in paediatric outpatients in Northern India. Dev Med Child Neurol. 2011 Feb; 53(2):167-72.

Jehee FS, Rosenberg C, Krepischi-Santos AC et al., An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus(FGS5) for FG syndrome. Am J Med Genet A. 2005 Dec 15; 139(3):221-6.

Jensen LJ, Kuhn M, Stark M et al., STRING 8--a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Res. 2009Jan; 37(Database issue):D412-6.

Jensen LR, Chen W, Moser B et al., Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J HumGenet. 2011 Jun; 19(6):717-20.

Johnson J, Anderson B, Pass RF. Prevention of maternal and congenital cytomegalovirus infection. Clin Obstet Gynecol. 2012 Jun; 55(2):521-30.

References

144

Jones MA, Ng BG, Bhide S et al., DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10; 90(2):363-8.

Juneja M, Jain R, Mishra D. Referral profile of a child development clinic in northern India. Indian J Pediatr. 2012 May; 79(5):602-5.

Kahler SG, Fahey MC. Metabolic disorders and mental retardation. Am J MedGenet C Semin Med Genet. 2003 Feb 15; 117C (1):31-41.

Kaidi A, Weinert BT, Choudhary C, Jackson SP. Human SIRT6 promotes DNA end resection through CtIP deacetylation. Science. 2010 Sep 10; 329(5997):1348-53.

Kakar N, Goebel I, Daud S et al., A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur J Med Genet. 2012Dec; 55(12):727-31.

Kalay E, Yigit G, Aslan Y et al., CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan; 43(1):23-6.

Katz G, Márquez-Caraveo ME, Lazcano-Ponce E. Perspectives of intellectual disability in Mexico: epidemiology, policy, and services for children and adults. Curr Opin Psychiatry. 2010 Sep; 23(5):432-5.

Khan MA, Rafiq MA, Noor A et al., Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet. 2012 May 4; 90(5):856-63

Kilinç MO, Ninis VN, Ugur SA et al., Is the novel SCKL3 at 14q23 the predominant Seckel locus? Eur J Hum Genet.2003 Nov; 11(11):851-7.

Kitsiou-Tzeli S, Frysira H, Giannikou K et al., Microdeletion and microduplication17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH. Gene. 2012 Jan 15; 492(1):319-24.

Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011 Oct 1; 25(19):2011-24.

Kondo Y, Saitsu H, Miyamoto T et al., A family of oculofaciocardiodental syndrome(OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J HumGenet. 2012 Mar; 57(3):197-201.

Koolen DA, Sharp AJ, Hurst JA et al., Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008 Nov; 45(11):710-20.

Krawitz PM, Schweiger MR, Rödelsperger C et al., Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010Oct; 42(10):827-9.

Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Mutations in STIL, encoding apericentriolar and centrosomal protein, cause primary microcephaly. Am J HumGenet. 2009 Feb; 84(2):286-90.

Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc.2009; 4(7):1073-81.

Kwok HW, Cui Y, Li J. Perspectives of intellectual disability in the People’s Republic of China: epidemiology, policy, services for children and adults. CurrOpin Psychiatry. 2011 Sep; 24(5):408-12.

Lancioni A, Pizzo M, Fontanella B et al., Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J Neurosci. 2010 Feb24; 30(8):2880-7.

Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar; 36(2):460-5.

References

145

Lee CG, Park SJ, Yim SY, Sohn YB. Clinical and cytogenetic features of aPotocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17q11.2including RAI1. Brain Dev. 2012 Oct 15.

Lee H, Graham JM Jr, Rimoin DL et al., Exome sequencing identifies PDE4D mutations in acrodysostosis .Am J Hum Genet. 2012 Apr 6; 90(4):746-51.

Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec28; 131(7):1235-47.

Lemmers RJ, Tawil R, Petek LM et al., Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeralmuscular dystrophy type 2. Nat Genet. 2012 Dec; 44(12):1370-4.

LeNoue-Newton M, Watkins GR, Zou P, Germane KL et al., The E3 ubiquitin ligase- and protein phosphatase 2A (PP2A)-binding domains of the Alpha4 protein are both required for Alpha4 to inhibit PP2Adegradation. J Biol Chem. 2011 May 20; 286(20):17665-71.

Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheelertransform. Bioinformatics. 2010 Mar 1; 26(5):589-95.

Li H, Handsaker B, Wysoker A et al., The SequenceAlignment/Map format and SAMtools. Bioinformatics. 2009 Aug 15; 25(16):2078-9.

Li S, Ting NS, Zheng L et al., Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Nature. 2000 Jul 13; 406(6792):210-5.

Lin LP, Lin JD. Perspectives on intellectual disability in Taiwan: epidemiology, policy and services for children and adults. Curr Opin Psychiatry. 2011 Sep; 24(5):413-8.

Liu X, Jian X, Boerwinkle E. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011Aug; 32(8):894-9.

Löffler H, Fechter A, Matuszewska M et al., Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. Cancer Res. 2011 Mar 15; 71(6):2129-39.

Löffler H, Fechter A, Matuszewska M et al., Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. Cancer Res. 2011 Mar 15; 71(6):2129-39.

Ludi E, Ballard ED, Greenbaum R et al., Suicide risk in youth with intellectual disabilities: the challenges of screening. J Dev Behav Pediatr. 2012 Jun;33(5):431-40.

Lupski JR. Digenic inheritance and Mendelian disease. Nat Genet. 2012Dec; 44(12):1291-2.

Lynch SA, Foulds N, Thuresson AC et al., The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet. 2011 May; 19(5):534-9.

Mabb AM, Ehlers MD. Ubiquitination in postsynaptic function and plasticity .Annu Rev Cell Dev Biol. 2010; 26:179-210.

Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012 Jan 4;7:2.

Marian AJ. Challenges in medical applications of whole exome/genome sequencing discoveries. Trends Cardiovasc Med. 2012 Nov;22(8):219-23.

Masurel-Paulet A, Andrieux J, Callier P et al., Delineation of 15q13.3 microdeletions. Clin Genet. 2010 Aug; 78(2):149-61.

Matsuura T, Sutcliffe JS, Fang P et al., De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997 Jan;15(1):74-7.

References

146

McCarthy J, O'Hara J. Ill-health and intellectual disabilities. Curr OpinPsychiatry. 2011 Sep;24(5):382-6.

McGoey R, Varma A, Lacassie Y. Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. Am J Med Genet A. 2010 Dec;152A(12):3068-73.

Mefford H, Shur N, Rosenfeld J. 15q24 Microdeletion Syndrome. 2012 Feb 23.In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK84258/

Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med. 2012 Feb 23;366(8):733-43.

Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev. 2009 Jun;19(3):196-204.

Mefford HC, Rosenfeld JA, Shur N et al., Further clinical and molecular delineation of the 15q24 microdeletion syndrome. JMed Genet. 2012 Feb;49(2):110-8.

Mefford HC, Sharp AJ, Baker C et al., Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl JMed. 2008 Oct 16;359(16):1685-99.

Miller DT, Nasir R, Sobeih MM et al., 16p11.2Microdeletion. 2009 Sep 22 [updated 2011 Oct 27]. In: Pagon RA, Bird TD, DolanCR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA):University of Washington, Seattle; 1993-. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK11167/

Mokrani-Benhelli H, Gaillard L, Biasutto P et al., Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations. Hum Mutat. 2013 Feb;34(2):374-84.

Molinari F, Foulquier F, Tarpey PS et al., Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 2008 May;82(5):1150-7.

Muhle H, Mefford HC, Obermeier T et al., Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia. 2011 Dec;52(12):e194-8.

Muller E, Hudgins L. 9q22.3 Microdeletion. 2011 Aug 18. In: Pagon RA, BirdTD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle(WA): University of Washington, Seattle; 1993-. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK61984/

Muller EA, Aradhya S, Atkin JF et al., Microdeletion 9q22.3 syndrome includes metopiccraniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J MedGenet A. 2012 Feb;158A(2):391-9.

Murdock DR, Clark GD, Bainbridge MN et al., Whole-exome sequencing identifies compound heterozygousmutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A.2011 Sep;155A(9):2071-7.

Najmabadi H, Hu H, Garshasbi M et al., Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63.

Najmabadi H, Motazacker MM, Garshasbi M et al., Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2007 Mar;121(1):43-8.

Napolitano LM, Jaffray EG, Hay RT, Meroni G. Functional interactions between ubiquitin E2 enzymes and TRIM proteins. Biochem J. 2011 Mar 1;434(2):309-19.

References

147

Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet. 2006 Sep;79(3):549-55.

Neill NJ, Ballif BC, Lamb AN et al., Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res. 2011 Apr;21(4):535-44.

Ng D, Hadley DW, Tifft CJ, Biesecker LG. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet. 2002 Jul 15;110(4):308-14.

Ng D, Thakker N, Corcoran CM, Donnai D et al., Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004Apr;36(4):411-6.

Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002 Mar;12(3):436-46.

Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet. 2006;7:61-80.

Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003 Jul 1;31(13):3812-4.

Ng SB, Bigham AW, Buckingham KJ et al., Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3.

Nillesen WM, Yntema HG, Moscarda M et al., Characterization of a novel transcript of theEHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Hum Mutat. 2011 Jul;32(7):853-9.

O'Driscoll M, Jackson AP, Jeggo PA. Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle. 2006Oct;5(20):2339-44.

Oeseburg B, Dijkstra GJ, Groothoff JW et al., Prevalence of chronic health conditions in children with intellectual disability: asystematic literature review. Intellect Dev Disabil. 2011 Apr;49(2):59-85.

Olesen J, Gustavsson A, Svensson M et al., The economic cost of brain disorders in Europe. Eur J Neurol. 2012 Jan;19(1):155-62.

Ou Z, Berg JS, Yonath H, Enciso VB et al., Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr;10(4):267-77.

Patel RK, Jain M. NGS QC Toolkit: a toolkit for quality control of next generation sequencing data. PLoS One. 2012;7(2):e30619.

Pathi SS, Jutooru I, Chadalapaka G et al., GT-094, a NO-NSAID, inhibits colon cancer cell growth by activation of a reactive oxygen species-microRNA-27a: ZBTB10-specificity protein pathway. MolCancer Res. 2011 Feb;9(2):195-202.

Pavlowsky A, Chelly J, Billuart P. Emerging major synaptic signaling pathways involved in intellectual disability. Mol Psychiatry. 2012 Jul;17(7):682-93.

Portnoï MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J MedGenet. 2009 Mar-Jun;52(2-3):88-93.

Van der Aa N, Rooms L, Vandeweyer G et al., Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet.2009 Mar-Jun;52(2-3):94-100.

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A. Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. Clin Dysmorphol. 2009 Apr;18(2):78-82.

References

148

Quaye L, Dafou D, Ramus SJ et al., Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. Hum Mol Genet.2009 May 15;18(10):1869-78.

Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001 Apr;27(4):422-6.

Qvist P, Huertas P, Jimeno S et al., CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011Oct;7(10):e1002310.

Rafiq MA, Ansar M, Marshall CR et al., Mapping of three novel loci fornon-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clin Genet. 2010 Nov;78(5):478-83.

Rafiq MA, Kuss AW, Puettmann L et al., Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul15;89(1):176-82.

Raina SK, Razdan S, Nanda R. Prevalence of mental retardation among children in RS Pura town of Jammu and Kashmir. Ann Indian Acad Neurol. 2012Jan;15(1):23-6.

Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002 Sep 1;30(17):3894-900.

Rauch A, Thiel CT, Schindler D et al., Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9.

Redon R, Baujat G, Sanlaville D et al., Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J HumGenet. 2006 Jun;14(6):759-67.

Reymond A, Meroni G, Fantozzi A et al., The tripartite motif family identifies cell compartments. EMBO J. 2001 May 1;20(9):2140-51.

Rio M, Malan V, Boissel S, Toutain A et al., Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet. 2010 Mar;18(3):285-90.

Ropers F, Derivery E, Hu H et al., Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: theWASH complex member SWIP. Hum Mol Genet. 2011 Jul 1;20(13):2585-90.

Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57.

Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics HumGenet. 2010 Sep 22;11:161-87.

Ropers HH. Genetics of intellectual disability. Curr Opin Genet Dev. 2008Jun;18(3):241-50.

Rosenberg C, Knijnenburg J, Bakker E et al., Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet. 2006 Feb;43(2):180-6.

Rosenfeld JA, Lacassie Y, El-Khechen D et al., New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. Eur J Med Genet. 2011Jan-Feb;54(1):42-9.

Rosenfeld JA, Traylor RN, Schaefer GB et al., Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur JHum Genet. 2012 Jul;20(7):754-61.

Rudd MK, Keene J, Bunke B et al., Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet. 2009 Aug 15;18(16):2957-62.

References

149

Sachidanandam R, Weissman D, Schmidt SC et al., International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001 Feb 15;409(6822):928-33.

Saitsu H, Kato M, Osaka H et al., CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia. 2012Aug;53(8):1441-9.

Saitsu H, Osaka H, Sasaki M et al., Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet.2011 Nov 11;89(5):644-51.

Santen GW, Aten E, Sun Y et al., Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. NatGenet. 2012 Mar 18;44(4):379-80.

Sartori AA, Lukas C, Coates J et al., Human CtIP promotes DNA end resection. Nature. 2007 Nov22;450(7169):509-14.

Schossig A, Wolf NI, Fischer C et al., Mutations in ROGDI CauseKohlschütter-Tönz Syndrome. Am J Hum Genet. 2012 Apr 6;90(4):701-7.

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010Aug;7(8):575-6.

Shaffer LG, Theisen A, Bejjani BA et al., The discovery of microdeletionsyndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med. 2007 Sep;9(9):607-16.

Sharma D, Gupta M, Thelma BK. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol.2001 Jan;20(1):129-144.

Sharp AJ, Locke DP, McGrath SD et al., Segmental duplications and copy-number variation in the human genome. Am J HumGenet. 2005 Jul;77(1):78-88.

Sharp AJ, Selzer RR, Veltman JA et al., Characterization of a recurrent 15q24microdeletion syndrome. Hum Mol Genet. 2007 Mar 1;16(5):567-72.

Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet. 2002Nov;71(5):1072-81.

Shendure J, Mitra RD, Varma C, Church GM. Advanced sequencing technologies: methods and goals. Nat Rev Genet. 2004 May;5(5):335-44.

Shimada S, Okamoto N, Ito M et al., MECP2 duplication syndrome in both genders. Brain Dev. 2012 Aug 6.

Short KM, Cox TC. Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding. J Biol Chem. 2006 Mar31;281(13):8970-80.

Short KM, Hopwood B, Yi Z, Cox TC. MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biol. 2002;3:1.

Sibbons C, Morris JK, Crolla JA et al., De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance. Eur J Hum Genet. 2012Feb;20(2):155-60.

Simpson MA, Deshpande C, Dafou D et al., De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):290-4.

Sirmaci A, Spiliopoulos M, Brancati F et al., Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, andmacrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94.

References

150

Srour M, Schwartzentruber J, Hamdan FF et al., Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012 Apr6;90(4):693-700.

Stankiewicz P, Kulkarni S, Dharmadhikari AV et al., Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan;33(1):165-79.

Stein Z, Belmont L, Durkin M. Mild mental retardation and severe mental retardation compared: experiences in eight less developed countries. Ups J MedSci Suppl. 1987;44:89-96.

Stiff T, Reis C, Alderton GK et al., Nbs1 is required for ATR-dependent phosphorylation events. EMBO J. 2005 Jan12;24(1):199-208.

Sum EY, Peng B, Yu X et al., The LIMdomain protein LMO4 interacts with the cofactor CtIP and the tumor suppressorBRCA1 and inhibits BRCA1 activity. J Biol Chem. 2002 Mar 8;277(10):7849-56.

Sunyaev SR, Eisenhaber F, Rodchenkov IV et al., PSIC: profile extraction from sequence alignments with position-specific counts of independent observations. Protein Eng. 1999 May;12(5):387-94.

Suzuki M, Hara Y, Takagi C et al., MID1 and MID2 are required for Xenopus neural tube closure through the regulation of microtubule organization. Development. 2010 Jul;137(14):2329-39.

Szklarczyk D, Franceschini A, Kuhn M et al., The STRING database in2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res. 2011 Jan;39(Database issue):D561-8.

Tai HC, Schuman EM. Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction. Nat Rev Neurosci. 2008 Nov;9(11):826-38.

Tan TY, Collins A, James PA et al., Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A. 2011 Jul;155A(7):1623-33.

Tang CJ, Fu RH, Wu KS et al., CPAP is a cell-cycle regulated protein that controls centriole length. Nat Cell Biol. 2009 Jul;11(7):825-31.

Tarpey PS, Raymond FL, O'Meara S et al., Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pescavus, and tremor. Am J Hum Genet. 2007 Feb;80(2):345-52.

Tarpey PS, Smith R, Pleasance E et al., A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May;41(5):535-43.

Topper S, Ober C, Das S. Exome sequencing and the genetics of intellectual disability. Clin Genet. 2011 Aug;80(2):117-26.

Trasande L, Schechter CB, Haynes KA et al., Mental retardation and prenatal methyl mercury toxicity. Am J Ind Med. 2006 Mar;49(3):153-8.

Treadwell-Deering DE, Powell MP, Potocki L. Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J DevBehav Pediatr. 2010 Feb-Mar;31(2):137-43.

Tsurusaki Y, Okamoto N, Ohashi H et al., Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8.

van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet. 2011;45:81-104.

Pagon RA, Bird TD, Dolan CR et al., GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK50780/

van Bon BW, Balciuniene J, Fruhman G et al., The phenotype of recurrent10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr;19(4):400-8.

References

151

van Bon BWM, Mefford HC, de Vries BBA. 15q13.3 Microdeletion. 2010 Dec 23.In:

Van Esch H. MECP2 Duplication Syndrome. Mol Syndromol. 2012Apr;2(3-5):128-136.

van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab. 2012 Mar;105(3):368-81.

Vanderveen JA, Bassler D, Robertson CM, Kirpalani H. Early interventions involving parents to improve neurodevelopment outcomes of premature infants: a meta-analysis. J Perinatol. 2009 May;29(5):343-51.

Vieira GH, Rodriguez JD, Carmona-Mora P et al., Detection of classical 17p11.2 deletions, an atypical deletion andRAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. Eur J Hum Genet. 2012 Feb;20(2):148-54.

Vissers LE, de Vries BB, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. JMed Genet. 2010 May;47(5):289-97.

von der Lippe C, Rustad C, Heimdal K, Rødningen OK. 15q11.2 microdeletion -seven new patients with delayed development and/or behavioural problems. Eur JMed Genet. 2011 May-Jun;54(3):357-60.

Walsh CA, Engle EC. Allelic diversity in human developmental neurogenetics:insights into biology and disease. Neuron. 2010 Oct 21;68(2):245-53.

Wamstad JA, Corcoran CM, Keating AM, Bardwell VJ. Role of the transcriptional corepressor Bcor in embryonic stem cell differentiation and early embryonic development. PLoS One. 2008 Jul 30;3(7):e2814.

Wells CD, Fawcett JP, Traweger A et al., ARich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. Cell. 2006 May 5;125(3):535-48.

Whibley AC, Plagnol V, Tarpey PS et al., Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet. 2010 Aug13;87(2):173-88.

Willems M, Geneviève D, Borck G et al., Molecular analysis of pericentrin gene (PCNT) in a series of 24Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II)families. J Med Genet. 2010 Dec;47(12):797-802.

Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters.Clin Genet. 2011 Sep;80(3):214-25.

Wittchen HU, Jacobi F, Rehm J et al., The size and burden of mental disorders and other disorders of the brain in Europe 2010. EurNeuropsychopharmacol. 2011 Sep;21(9):655-79.

Witte MM, Scott RE. The proliferation potential protein-related (P2P-R) gene with domains encoding heterogeneous nuclear ribonucleoprotein association and Rb1binding shows repressed expression during terminal differentiation. Proc NatlAcad Sci U S A. 1997 Feb 18;94(4):1212-7.

Xiang B, Zhu H, Shen Y et al., Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J MolDiagn. 2010 Mar;12(2):204-12.

Xu X, Xu Q, Zhang Y et al., A case report of Chinese brothers with inherited MECP2-containingduplication: autism and intellectual disability, but not seizures or respiratory infections. BMC Med Genet. 2012 Aug 21;13:75.

Ye BH, Cattoretti G, Shen Q et al., The BCL-6 proto-oncogene controls germinal-centre formation andTh2-type inflammation. Nat Genet. 1997 Jun;16(2):161-70.

Yu HE, Hawash K, Picker J et al., A recurrent 1.71Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar;81(3):257-64.

References

152

Yu X, Baer R. Nuclear localization and cell cycle-specific expression ofCtIP, a protein that associates with the BRCA1 tumor suppressor. J Biol Chem.2000 Jun 16;275(24):18541-9.

Yun MH, Hiom K. CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. Nature. 2009 May 21;459(7245):460-3.

Zenker M, Mayerle J, Lerch MM et al., Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation(Johanson-Blizzard syndrome). Nat Genet. 2005 Dec;37(12):1345-50.

Zhang F, Potocki L, Sampson JB et al., Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12;86(3):462-70.

Zhang F, Seeman P, Liu P et al., Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP:rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun11;86(6):892-903.

Zhang J, Feuk L, Duggan GE et al., Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res. 2006;115(3-4):205-14.

Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopment disorders associated with autism and intellectual disabilities. Cold Spring Harb PerspectBiol. 2012 Mar 1;4(3).