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1 . Academic Journal
Improving access to exome sequencing in a medically underserved population through the Texome Project
저자
by
Mao, Dongxue
;
Kim, Seon Young
;
Pasupuleti, Sasidhar
;
Liu, Zhandong
;
Yamamoto, Shinya
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas
저자
by
Streff, Haley
;
Uhles, Crescenda L.
;
Fisher, Heather
;
Franciskovich, Rachel
;
Littlejohn, Rebecca O.
, et al.
소스
In
Genetics in Medicine
March 2023 25(3)
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7 . Academic Journal
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
저자
by
Streff, Haley
;
Bi, Weimin
;
Colón, Athos G.
;
Adesina, Adekunle M.
;
Miyake, Christina Y.
, et al.
소스
In
European Journal of Medical Genetics
November 2019 62(11)
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7 . Academic Journal
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
저자
by
Flex, Elisabetta
;
Martinelli, Simone
;
Van Dijck, Anke
;
Ciolfi, Andrea
;
Cecchetti, Serena
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):493-508
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7 . Academic Journal
Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital
저자
by
Kumar, Runjun D.
;
Saba, Lisa F.
;
Streff, Haley
;
Shaw, Chad A.
;
Mizerik, Elizabeth
, et al.
소스
In
Genetics in Medicine
June 2023
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7 . Academic Journal
A familial deletion of 10p12.1 associated with thrombocytopenia.
저자
by
Manohar, Sujal
;
Gofin, Yoel
;
Streff, Haley
;
Vossaert, Liesbeth
;
Camacho, Pamela
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p77-81, 5p
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7 . Academic Journal
FOXI3 pathogenic variants cause one form of craniofacial microsomia
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by
Mao, Ke
;
Borel, Christelle
;
Ansar, Muhammad
;
Jolly, Angad
;
Makrythanasis, Periklis
, et al.
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Nature Communications
. 14(1)
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7 . Academic Journal
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
저자
by
Tamma, Poornima L.
;
Streff, Haley
;
Murali, Chaya N.
.
소스
American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1576-1580, 5p
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5 . Academic Journal
Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency.
저자
by
Mackay, Laura
;
Gijavanekar, Charul
;
Streff, Haley
;
Price, Jack F.
;
Elsea, Sarah H.
, et al.
소스
American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1366-1372, 7p
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7 . Academic Journal
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
저자
by
Tremblay, Martine W
;
Green, Matthew V
;
Goldstein, Benjamin M
;
Aldridge, Andrew I
;
Rosenfeld, Jill A
, et al.
소스
Human Molecular Genetics; 5/1/2022, Vol. 31 Issue 9, p1430-1442, 13p
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