Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Brenda M Finucane"'
Autor:
Alexander S. F. Berry, Brenda M. Finucane, Scott M. Myers, Lauren K. Walsh, John M. Seibert, Christa Lese Martin, David H. Ledbetter, Matthew T. Oetjens
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypoth
Externí odkaz:
https://doaj.org/article/f0da2cc7458a4d61b2c706f50ed3eb7e
Autor:
Hermela, Shimelis, Matthew T, Oetjens, Lauren K, Walsh, Karen E, Wain, Masa, Znidarsic, Scott M, Myers, Brenda M, Finucane, David H, Ledbetter, Christa Lese, Martin
Publikováno v:
American Journal of Psychiatry. 180:65-72
Autism, schizophrenia, and other clinically distinct neurodevelopmental psychiatric disorders (NPDs) have shared genetic etiologies, including single-gene and multigenic copy number variants (CNVs). Because rare variants are primarily investigated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fd15e1b0b944bc8dd2df1e47e1e624
https://doi.org/10.1176/appi.ajp.22010062
https://doi.org/10.1176/appi.ajp.22010062
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7182efea3f085a97eb10b5bcee3b719
https://pubmed.ncbi.nlm.nih.gov/36609148
https://pubmed.ncbi.nlm.nih.gov/36609148
Autor:
Cora M. Taylor, Brenda M. Finucane, Andres Moreno-De-Luca, Lauren K. Walsh, Christa Lese Martin, David H. Ledbetter
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
Recurrent 16p11.2 duplications produce a wide range of clinical outcomes with varying effects on cognition and social functioning. Family-based studies of copy number variants (CNVs) have revealed significant contributions of genomic background on va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b43d341580e84ad3cadbd4d5e874a9
https://pubmed.ncbi.nlm.nih.gov/36609147
https://pubmed.ncbi.nlm.nih.gov/36609147
Autor:
Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda M. Finucane, David H. Ledbetter, Christa L. Martin, Andres Moreno-De-Luca
Publikováno v:
JAMA Pediatrics. 177:472
ImportanceExome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b5df6d739e96e5bed62376241eb6744
https://doi.org/10.1001/jamapediatrics.2023.0008
https://doi.org/10.1001/jamapediatrics.2023.0008
Autor:
Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
Publikováno v:
Genet Med
PURPOSE: Penetrance estimates of Birt-Hogg-Dubé (BHD)-associated cutaneous, pulmonary, and kidney manifestations are based on clinically ascertained families. In a healthcare system population, we used a genetics-first approach to estimate the preva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b4e1a98407abc84d711a3587c3cf45
https://europepmc.org/articles/PMC9703446/
https://europepmc.org/articles/PMC9703446/
Autor:
Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
PurposeCurrent penetrance estimates of Birt-Hogg-Dubé (BHD)-associated cutaneous, pulmonary, and renal manifestations are based on clinically ascertained families. In a healthcare system population, we used a genetics-first approach to estimate the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f449511555116e51b68ba084b6dc7e45
https://doi.org/10.1101/2022.01.31.22269926
https://doi.org/10.1101/2022.01.31.22269926
Autor:
Alexander S. F. Berry, Brenda M. Finucane, Scott M. Myers, Angela Abril, H. Lester Kirchner, David H. Ledbetter, Christa Lese Martin, Matthew T. Oetjens
Publikováno v:
JAMA. 329:235
ImportanceAn increased risk of venous thromboembolism (VTE) has been reported in men with an additional sex chromosome. The association between other sex chromosome aneuploidies and VTE is not well characterized.ObjectiveTo determine if sex chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da2c141385ed96d8aa6b94268f90a532
https://doi.org/10.1001/jama.2022.23897
https://doi.org/10.1001/jama.2022.23897
Autor:
Evan Maxwell, Lukas Habegger, David H. Ledbetter, S.M. Myers, Christa Leese Martin, H L Kirchner, A. Johns, Brenda M Finucane, Matthew T. Oetjens, Jeffrey G. Reid, C. Fisher
Publikováno v:
Genet Med
PURPOSE: Recurrent pathogenic copy number variants (pCNVs) have large-effect impacts on brain function and represent important etiologies of neurodevelopmental psychiatric disorders (NPDs), including autism and schizophrenia. Patterns of health care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeccd13149c410506f7d7f2a8e8eea46
https://europepmc.org/articles/PMC8901449/
https://europepmc.org/articles/PMC8901449/
Publikováno v:
Prenatal Diagnosis. 37:37-42
With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from mat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc0230a398d1ea84648bdb86ab1fe4ee
https://doi.org/10.1002/pd.4963
https://doi.org/10.1002/pd.4963