Search Results

FLNA genomic rearrangements cause periventricular nodular heterotopia.

• Authors : Clapham KR; Yu TW; Ganesh VS

• Source: Neurology; 1/24/2012, Vol. 78 Issue 4, p269-278, 10p

Record details

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

• Authors : Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

• Source: American journal of human genetics [Am J Hum Genet] 2024 Mar 27. Date of Electronic Publication: 2024 Mar 27.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

• Authors : Marchant RG; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar 27. Date of Electronic Publication: 2024 Mar 27.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

Record details

Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

• Authors : Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 27. Date of Electronic Publication: 2024 Feb 27.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA.

• Authors : Ganesh VS; Undiagnosed Diseases Network

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 07. Date of Electronic Publication: 2024 Feb 07.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

• Authors : Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 05. Date of Electronic Publication: 2023 Oct 05.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

• Authors : Akula SK; Polymicrogyria Genetics Research Network

Subjects: Polymicrogyria*/Polymicrogyria*/Polymicrogyria*/diagnostic imaging ; Polymicrogyria*/Polymicrogyria*/Polymicrogyria*/genetics; Humans

• Source: JAMA neurology [JAMA Neurol] 2023 Sep 01; Vol. 80 (9), pp. 980-988.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.

• Authors : Villamor-Payà M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona 08028, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 24. Date of Electronic Publication: 2023 Aug 24.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

• Authors : Wojcik MH; Lemire G; Zaki MS

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 13. Date of Electronic Publication: 2023 Aug 13.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

• Authors : Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

• Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 04. Date of Electronic Publication: 2023 Aug 04.Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not

Record details