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1 . Academic Journal
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
저자
by
Lemire, Gabrielle
;
Sanchis-Juan, Alba
;
Russell, Kathryn
;
Baxter, Samantha
;
Chao, Katherine R.
, et al.
소스
In
The American Journal of Human Genetics
2 May 2024 111(5):863-876
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7 . Academic Journal
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
저자
by
Abouhala, Siwaar
;
Albert, Jessica
;
Almalvez, Miguel
;
Alvarez, Raquel
;
Amin, Mutaz
, et al.
소스
In
The American Journal of Human Genetics
3 August 2023 110(8):1229-1248
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7 . Academic Journal
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
저자
by
Bogaert, Elke
;
Garde, Aurore
;
Gautier, Thierry
;
Rooney, Kathleen
;
Duffourd, Yannis
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):790-808
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7 . Academic Journal
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
저자
by
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
;
Pfundt, Rolph
;
Bierhals, Tatjana
, et al.
소스
In
Genetics in Medicine
July 2023
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7 . Academic Journal
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
저자
by
Snijders Blok, Lot
;
Verseput, Jolijn
;
Rots, Dmitrijs
;
Venselaar, Hanka
;
Innes, A. Micheil
, et al.
소스
In
Human Genetics and Genomics Advances
12 January 2023 4(1)
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7 . Academic Journal
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (Na
V
1.7).
저자
by
Deuis, Jennifer R
;
Kumble, Smitha
;
Keramidas, Angelo
;
Ragnarsson, Lotten
;
Simons, Cas
, et al.
소스
Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p
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7 . Academic Journal
Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism–Based Prenatal Cell-Free DNA Screening.
저자
by
Goldring, Georgina
;
Trotter, Cindy
;
Meltzer, Jeffrey T.
;
Souter, Vivienne
;
Pais, Lynn
, et al.
소스
Obstetrics & Gynecology
. Apr2023, Vol. 141 Issue 4, p791-800. 10p.
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7 . Academic Journal
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
저자
by
Kiss, Sharmila
;
Christodoulou, John
;
Thorburn, David R.
;
Freeman, Jeremy L.
;
Kornberg, Andrew J.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1599-1606, 8p
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7 . Academic Journal
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.
저자
by
Bruels, Christine C.
;
Littel, Hannah R.
;
Daugherty, Audrey L.
;
Stafki, Seth
;
Estrella, Elicia A.
, et al.
소스
Annals of Clinical & Translational Neurology
. Aug2022, Vol. 9 Issue 8, p1302-1309. 8p.
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7 . Periodical
Monoallelic and biallelic variants in LEF1are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
저자
by
Dufour, William
;
Alawbathani, Salem
;
Jourdain, Anne-Sophie
;
Asif, Maria
;
Baujat, Geneviève
, et al.
소스
Genetics in Medicine; August 2022, Vol. 24 Issue: 8 p1708-1721, 14p
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