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Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 608 - 612
Purpose To provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples.... 
Exome | Recessive disorders | Genomic screening | Preconception screening | Consanguineous
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 566 - 573
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1866 - 1877
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion... 
macrodonti | KBG syndrome | ANRKD11 | intellectual disability | ANKRD11 | GENETICS & HEREDITY | MUTATIONS | Hernia | Calcification (ectopic) | Genotype & phenotype | Basal ganglia | Transcription | Viscera | Cryptorchidism | Palate | Mutation | Heart diseases | Osteopenia | Ganglia
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 1061 - 1068
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2011, Volume 155, Issue 10, pp. 2370 - 2380
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 240 - 250
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 608 - 612
Purpose: To provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples.... 
Exome | POPULATION | GENE | CYSTS | DISEASE | GENETICS & HEREDITY | Recessive disorders | Genomic screening | Preconception screening | MUTATIONS | PREVALENCE | Consanguineous | Index Medicus
Journal Article
Journal of genetic counseling, 04/2019, Volume 28, Issue 2, p. 240
The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for... 
Journal Article
Brain : a journal of neurology, 12/2018
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2011, Volume 155, Issue 10, pp. 2370 - 2380
Journal Article