[HTML][HTML] Translating RNA sequencing into clinical diagnostics: opportunities and challenges

SA Byron, KR Van Keuren-Jensen… - Nature Reviews …, 2016 - nature.com
With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …

Angelman syndrome—insights into a rare neurogenetic disorder

K Buiting, C Williams, B Horsthemke - Nature Reviews Neurology, 2016 - nature.com
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly,
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …

DNA methylation and human disease

KD Robertson - Nature Reviews Genetics, 2005 - nature.com
DNA methylation is a crucial epigenetic modification of the genome that is involved in
regulating many cellular processes. These include embryonic development, transcription …

People with intellectual disability: what do we know about adulthood and life expectancy?

AMW Coppus - Developmental disabilities research reviews, 2013 - Wiley Online Library
Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

[HTML][HTML] Prader-willi syndrome

SB Cassidy, S Schwartz, JL Miller, DJ Driscoll - Genetics in medicine, 2012 - Elsevier
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and
failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; …

Psychosis and autism as diametrical disorders of the social brain

B Crespi, C Badcock - Behavioral and brain sciences, 2008 - cambridge.org
Autistic-spectrum conditions and psychotic-spectrum conditions (mainly schizophrenia,
bipolar disorder, and major depression) represent two major suites of disorders of human …

Angelman syndrome 2005: updated consensus for diagnostic criteria

CA Williams, AL Beaudet… - American journal of …, 2006 - Wiley Online Library
In 1995, a consensus statement was published for the purpose of summarizing the salient
clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and …

Angelman syndrome: a review of the clinical and genetic aspects

J Clayton-Smith, L Laan - Journal of medical genetics, 2003 - jmg.bmj.com
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe
learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic …

Genetics of early onset cognitive impairment

HH Ropers - Annual review of genomics and human genetics, 2010 - annualreviews.org
Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …

Prader–Willi syndrome and Angelman syndrome

K Buiting - American Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic
disorders in which imprinted genes on the proximal long arm of chromosome 15 are …