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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2013, doi. 10.1002/ajmg.a.36606
By:
- Szafranski, Przemyslaw;
- Dharmadhikari, Avinash V.;
- Wambach, Jennifer A.;
- Towe, Chris T.;
- White, Frances V.;
- Grady, R. Mark;
- Eghtesady, Pirooz;
- Cole, F. Sessions;
- Deutsch, Gail;
- Sen, Partha;
- Stankiewicz, Paweł
Publication type:
Article
Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in <i>Foxf1</i> Heterozygous Knockout Mice.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094390
By:
- Sen, Partha;
- Dharmadhikari, Avinash V.;
- Majewski, Tadeusz;
- Mohammad, Mahmoud A.;
- Kalin, Tanya V.;
- Zabielska, Joanna;
- Ren, Xiaomeng;
- Bray, Molly;
- Brown, Hannah M.;
- Welty, Stephen;
- Thevananther, Sundararajah;
- Langston, Claire;
- Szafranski, Przemyslaw;
- Justice, Monica J.;
- Kalinichenko, Vladimir V.;
- Gambin, Anna;
- Belmont, John;
- Stankiewicz, Pawel
Publication type:
Article
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Published in:
2020
By:
- Abdelhakim, Aliaa H.;
- Dharmadhikari, Avinash V.;
- Ragi, Sara D.;
- de Carvalho, Jose Ronaldo Lima;
- 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.;
- de Carvalho, Jose Ronaldo Lima Jr
Publication type:
journal article
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Published in:
JAMA Pediatrics, 2017, v. 171, n. 12, p. 1, doi. 10.1001/jamapediatrics.2017.3438
By:
- Linyan Meng;
- Pammi, Mohan;
- Saronwala, Anirudh;
- Magoulas, Pilar;
- Ghazi, Andrew Ray;
- Vetrini, Francesco;
- Jing Zhang;
- Weimin He;
- Dharmadhikari, Avinash V.;
- Chunjing Qu;
- Ward, Patricia;
- Braxton, Alicia;
- Narayanan, Swetha;
- Xiaoyan Ge;
- Tokita, Mari J.;
- Santiago-Sim, Teresa;
- Hongzheng Dai;
- Theodore Chiangc;
- Smith, Hadley;
- Azamian, Mahshid S.
Publication type:
Article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
By:
- Dharmadhikari, Avinash V.;
- Kang, Sung-Hae L.;
- Szafranski, Przemyslaw;
- Person, Richard E.;
- Sampath, Srirangan;
- Prakash, Siddharth K.;
- Bader, Patricia I.;
- Phillips, John A.;
- Hannig, Vickie;
- Williams, Misti;
- Vinson, Sherry S.;
- Wilfong, Angus A.;
- Reimschisel, Tyler E.;
- Craigen, William J.;
- Patel, Ankita;
- Bi, Weimin;
- Lupski, James R.;
- Belmont, John;
- Cheung, Sau Wai;
- Stankiewicz, Pawel
Publication type:
Article
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
Published in:
2022
By:
- Dharmadhikari, Avinash V.;
- Pereira, Elaine M.;
- Andrews, Carli C.;
- Macera, Michael;
- Harkavy, Nina;
- Wapner, Ronald;
- Jobanputra, Vaidehi;
- Levy, Brynn;
- Ganapathi, Mythily;
- Liao, Jun
Publication type:
Case Study
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 801, doi. 10.1002/humu.22313
By:
- Sen, Partha;
- Yang, Yaping;
- Navarro, Colby;
- Silva, Iris;
- Szafranski, Przemyslaw;
- Kolodziejska, Katarzyna E.;
- Dharmadhikari, Avinash V.;
- Mostafa, Hasnaa;
- Kozakewich, Harry;
- Kearney, Debra;
- Cahill, John B.;
- Whitt, Merrissa;
- Bilic, Masha;
- Margraf, Linda;
- Charles, Adrian;
- Goldblatt, Jack;
- Gibson, Kathleen;
- Lantz, Patrick E.;
- Garvin, A. Julian;
- Petty, John
Publication type:
Article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
By:
- Stankiewicz, Paweł;
- Kulkarni, Shashikant;
- Dharmadhikari, Avinash V.;
- Sampath, Srirangan;
- Bhatt, Samarth S.;
- Shaikh, Tamim H.;
- Xia, Zhilian;
- Pursley, Amber N.;
- Cooper, M. Lance;
- Shinawi, Marwan;
- Paciorkowski, Alex R.;
- Grange, Dorothy K.;
- Noetzel, Michael J.;
- Saunders, Scott;
- Simons, Paul;
- Summar, Marshall;
- Lee, Brendan;
- Scaglia, Fernando;
- Fellmann, Florence;
- Martinet, Danielle
Publication type:
Article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
By:
- Thomas-Wilson, Amanda;
- Dharmadhikari, Avinash V.;
- Heymann, Jonas J.;
- Jobanputra, Vaidehi;
- DiMauro, Salvatore;
- Hirano, Michio;
- Naini, Ali B.;
- Ganapathi, Mythily
Publication type:
Article
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0639-5
By:
- Dharmadhikari, Avinash V.;
- Ghosh, Rajarshi;
- Yuan, Bo;
- Liu, Pengfei;
- Dai, Hongzheng;
- Al Masri, Sami;
- Scull, Jennifer;
- Posey, Jennifer E.;
- Jiang, Allen H.;
- He, Weimin;
- Vetrini, Francesco;
- Braxton, Alicia A.;
- Ward, Patricia;
- Chiang, Theodore;
- Qu, Chunjing;
- Gu, Shen;
- Shaw, Chad A.;
- Smith, Janice L.;
- Lalani, Seema;
- Stankiewicz, Pawel
Publication type:
Article
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Published in:
Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
By:
- Normand, Elizabeth A.;
- Braxton, Alicia;
- Nassef, Salma;
- Ward, Patricia A.;
- Vetrini, Francesco;
- He, Weimin;
- Patel, Vipulkumar;
- Qu, Chunjing;
- Westerfield, Lauren E.;
- Stover, Samantha;
- Dharmadhikari, Avinash V.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Dai, Hongzheng;
- Meng, Linyan;
- Wang, Xia;
- Xiao, Rui;
- Liu, Pengfei;
- Bi, Weimin;
- Xia, Fan
Publication type:
Article
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 128, doi. 10.1186/s12881-014-0128-z
By:
- Dharmadhikari, Avinash V;
- Gambin, Tomasz;
- Szafranski, Przemyslaw;
- Cao, Wenjian;
- Probst, Frank J;
- Weihong Jin;
- Ping Fang;
- Gogolewski, Krzysztof;
- Gambin, Anna;
- George-Abraham, Jaya K;
- Golla, Sailaja;
- Boidein, Francoise;
- Duban-Bedu, Benedicte;
- Delobel, Bruno;
- Andrieux, Joris;
- Becker, Kerstin;
- Holinski-Feder, Elke;
- Sau Wai Cheung;
- Stankiewicz, Pawel
Publication type:
Article

Found: 12