for Specific Topics



References for Specific Topics


Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harb Perspect Biol. 2011;3:a002592.


Baxter R, Vilain R. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013;14:371–392.


Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome. Genet Med. 2012;14:10–26.


Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43:838–846.


de Ligt J, Willemsen H, van Bon BWM, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–1929.


Ellison JW, Rosenfeld JA, Shaffer LG. Genetic basis of intellectual disability. Ann Rev Med. 2013;64:441–450.


Gajecka M, MacKay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet Part C Semin Med Genet. 2007;145C:346–356.


Higgins AW, Alkuraya FS, Bosco AF, et al. Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008;82:712–722.


Hughes IA, Davies JD, Bunch TI, et al. Androgen insensitivity syndrome. Lancet. 2012;380:1419–1428.


Hughes IA, Houk C, Ahmed SF, et al. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554–563.


Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Ann Rev Genomics Hum Genet. 2013;14:191–213.


Jiang Y, Yuen RKC, Jin X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013;93:1–15.


Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13:777–784.


Korbel JO, Tirosh-Wagner T, Urban AE, et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA. 2009;106:12031–12036.


Leggett V, Jacobs P, Nation K, et al. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Devel Med Child Neurol. 2010;52:119–129.


Mabb AM, Judson MC, Zylka MJ, et al. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 2011;34:293–303.


Moreno-De-Luca A, Myers SM, Challman TD, et al. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol. 2013;12:406–414.


Morris JK, Alberman E, Mutton D, et al. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet A. 2012;158A:1151–1157.


Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478:57–63.


Silber SJ. The Y chromosome in the era of intracytoplasmic sperm injection. Fertil Steril. 2011;95:2439–2448.


Talkowski ME, Maussion G, Crapper L, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012;91:1128–1134.


Talkowski ME, Rosenfeld JA, Blumenthal I, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149:525–537.


Weischenfeldt J, Symmns O, Spitz F, et al. Phenotypic impact of genomic structural variation: insights from and for human disease. Nat Rev Genet. 2013;14:125–138.


Zufferey F, Sherr EH, Beckmann ND, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2013;49:660–668.

Only gold members can continue reading. Log In or Register to continue

Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on for Specific Topics
Premium Wordpress Themes by UFO Themes
%d bloggers like this: