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전체선택

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

학술저널

issue: Scientific Reports. 12(1)
Author: Ganapathi, Mythily
Thomas-Wilson, Amanda
Buchovecky, Christie
Dharmadhikari, Avinash
Barua, Subit
Lee, Winston
Ruan, Merry Z. C.
Soucy, Megan
Ragi, Sara
Tanaka, Joy
Clark, Lorraine N.
Naini, Ali B.
Liao, Jun
Mansukhani, Mahesh
Tsang, Stephen^{Aff2, Aff4}
Jobanputra, Vaidehi^{Aff1, Aff5, IDs41598022130262_cor16}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) OA (Nature) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Effectiveness of a Pre-Conception Education Program in India at Improving Fertility Rates.

학술저널

issue: Journal of Prenatal & Perinatal Psychology & Health. Spring2022, Vol. 36 Issue 1, p54-75. 22p.
Author: Kelkar, Gajanan¹
Dharmadhikari, Avinash²
Dharmadhikari, Amita
DB Label: Database : Academic Search Complete

원문보기: Full Text (원문보기)

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

학술저널

issue: Orphanet Journal of Rare Diseases. 15(1)
Author: Abdelhakim, Aliaa H.
Dharmadhikari, Avinash V.
Ragi, Sara D.
de Carvalho, Jr., Jose Ronaldo Lima^{Aff1, Aff3}
Xu, Christine L.
Thomas, Amanda L.
Buchovecky, Christie M.
Mansukhani, Mahesh M.
Naini, Ali B.
Liao, Jun
Jobanputra, Vaidehi
Maumenee, Irene H.
Tsang, Stephen H.^Aff1
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

54. VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies and overgrowth disorders

학술저널

issue: In Cancer Genetics November 2023 278-279 Supplement 1
Author: Dharmadhikari, Avinash
Ostrow, Dejerianne
Maglinte, Dennis
Bootwalla, Moiz
Sharma, Ankit
Mehta, Vandana
Fong, Cindy
Ganguly, Arupa
Biegel, Jaclyn
Deardorff, Matthew
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

학술저널

issue: GENETICS IN MEDICINE; SEP 2022, 24 9, p1899-p1908, 10p.
Author: Riggs, Erin Rooney
Bingaman, Taylor, I
Barry, Carrie-Ann
Behlmann, Andrea
Bluske, Krista
Bostwick, Bret
Bright, Alison
Chen, Chun-An
Clause, Amanda R.
Dharmadhikari, Avinash, V
Ganapathi, Mythily
Gonzaga-Jauregui, Claudia
Grant, Andrew R.
Hughes, Madeline Y.
Kim, Se Rin
Krause, Amanda
Liao, Jun
Lumaka, Aime
Mah, Michelle
Maloney, Caitlin M.
Mohan, Shruthi
Osei-Owusu, Ikeoluwa A.
Reble, Emma
Rennie, Olivia
Savatt, Juliann M.
Shimelis, Hermela
Siegert, Rebecca K.
Sneddon, Tam P.
Thaxton, Courtney
Toner, Kelly A.
Tran, Kien Trung
Webb, Ryan
Wilcox, Emma H.
Yin, Jiani
Zhuo, Xinming
Znidarsic, Masa
Martin, Christa Lese
Betancur, Catalina
Vorstman, Jacob A. S.
Miller, David T.
Schaaf, Christian P.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

학술저널

issue: Genome Medicine. 11(1)
Author: Dharmadhikari, Avinash V.
Ghosh, Rajarshi
Yuan, Bo^{Aff1, Aff2}
Liu, Pengfei^{Aff1, Aff2}
Dai, Hongzheng^{Aff1, Aff2}
Al Masri, Sami
Scull, Jennifer^{Aff1, Aff2}
Posey, Jennifer E.
Jiang, Allen H.
He, Weimin
Vetrini, Francesco
Braxton, Alicia A.^{Aff1, Aff2}
Ward, Patricia^{Aff1, Aff2}
Chiang, Theodore
Qu, Chunjing
Gu, Shen
Shaw, Chad A.^{Aff1, Aff2}
Smith, Janice L.^{Aff1, Aff2}
Lalani, Seema^{Aff1, Aff2}
Stankiewicz, Pawel^{Aff1, Aff2}
Cheung, Sau-Wai^{Aff1, Aff2}
Bacino, Carlos A.^{Aff2, Aff6}
Patel, Ankita^{Aff1, Aff2}
Breman, Amy M.^{Aff1, Aff2}
Wang, Xia^{Aff1, Aff2}
Meng, Linyan^{Aff1, Aff2}
Xiao, Rui^{Aff1, Aff2}
Xia, Fan^{Aff1, Aff2}
Muzny, Donna
Gibbs, Richard A.^{Aff2, Aff4}
Beaudet, Arthur L.
Eng, Christine M.^{Aff1, Aff2}
Lupski, James R.^{Aff2, Aff4, Aff5, Aff6}
Yang, Yaping^{Aff1, Aff2}
Bi, Weimin^{Aff1, Aff2}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

학술저널

issue: Genome Medicine. 10(1)
Author: Normand, Elizabeth A.^Aff1
Braxton, Alicia^{Aff1, Aff2}
Nassef, Salma^Aff1
Ward, Patricia A.^{Aff1, Aff2}
Vetrini, Francesco^Aff2
He, Weimin^Aff2
Patel, Vipulkumar^Aff2
Qu, Chunjing^Aff2
Westerfield, Lauren E.^Aff1
Stover, Samantha^Aff1
Dharmadhikari, Avinash V.^Aff2
Muzny, Donna M.^{Aff1, Aff3}
Gibbs, Richard A.^{Aff1, Aff3}
Dai, Hongzheng^Aff1
Meng, Linyan^{Aff1, Aff2}
Wang, Xia^{Aff1, Aff2}
Xiao, Rui^{Aff1, Aff2}
Liu, Pengfei^{Aff1, Aff2}
Bi, Weimin^{Aff1, Aff2}
Xia, Fan^{Aff1, Aff2}
Walkiewicz, Magdalena^{Aff1, Aff2, Aff4}
Van den Veyver, Ignatia B.^{Aff1, Aff5}
Eng, Christine M.^{Aff1, Aff2}
Yang, Yaping^{Aff1, Aff2}
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (원문보기) OA (Springer) Open Access (BioMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1 -> qter Tetrasomy in a Mildly Affected Girl

학술저널

issue: FRONTIERS IN GENETICS; JUL 19 2022, 13 p906077 8p.
Author: Dharmadhikari, Avinash V.
Pereira, Elaine M.
Andrews, Carli C. .
Macera, Michael
Harkavy, Nina
Wapner, Ronald
Jobanputra, Vaidehi
Levy, Brynn
Ganapathi, Mythily
Liao, Jun
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Growth Curve Analysis of Cumulative Automobile Defects

전자책

issue: Advances in Growth Curve Models : Topics from the Indian Statistical Institute. 46:241-256
Author: Dasgupta, Ratan^Aff2
Dharmadhikari, Avinash^Aff3
DB Label: Database : Springer Nature eBooks