Works matching AU Dai, Hongzheng

Results: 29

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

Published in:

2021

By:

Murdock, David R.;
Hongzheng Dai;
Burrage, Lindsay C.;
Rosenfeld, Jill A.;
Ketkar, Shamika;
MÃller, Michaela F.;
Yépez, Vicente A.;
Gagneur, Julien;
Pengfei Liu;
Shan Chen;
Jain, Mahim;
Zapata, Gladys;
Bacino, Carlos A.;
Hsiao-Tuan Chao;
Moretti, Paolo;
Craigen, William J.;
Hanchard, Neil A.;
Lee, Brendan;
Dai, Hongzheng;
Müller, Michaela F

Publication type:

journal article

De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63975

By:

Corriveau, Melina L.;
Korb, Joshua C.;
Michener, Sydney L.;
Owen, Nichole M.;
Wilson, Erica L.;
Kubala, Jamie;
Turner, Alicia;
Takacs, Danielle S.;
Potocki, Lorraine;
Swann, John W.;
Xue, Mingshan;
Dai, Hongzheng;
Chao, Hsiao‐Tuan

Publication type:

Article

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1792

By:

Wang, Lei;
Liu, Pengfei;
Bi, Weimin;
Sim, Teresa;
Wang, Xia;
Walkiewicz, Magdalene;
Leduc, Magalie Sophie;
Meng, Linyan;
Xia, Fan;
Eng, Christine M.;
Yang, Yaping;
Yuan, Bo;
Dai, Hongzheng

Publication type:

Article

Distinct roles of DNMT1-dependent and DNMT1-independent methylation patterns in the genome of mouse embryonic stem cells.

Published in:

Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0685-2

By:

Zhiguang Li;
Hongzheng Dai;
Martos, Suzanne N.;
Beisi Xu;
Yang Gao;
Teng Li;
Guangjing Zhu;
Schones, Dustin E.;
Zhibin Wang

Publication type:

Article

The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results.

Published in:

Diabetes Care, 2023, v. 46, n. 6, p. 1265, doi. 10.2337/dc22-2440

By:

RADIANT Study Group;
Balasubramanyam, Ashok;
Redondo, Maria J.;
Craigen, William;
Dai, Hongzheng;
Davis, Ansley;
Desai, Dimpi;
Dussan, Monica;
Faruqi, Jordana;
Gaba, Ruchi;
Gonzalez, Iliana;
Jhangiani, Shalini;
Kubota-Mishra, Elizabeth;
Liu, Pengfei;
Murdock, David;
Posey, Jennifer;
Ram, Nalini;
Sabo, Aniko;
Sisley, Stephanie;
Tosur, Mustafa

Publication type:

Article

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497

By:

Dai, Hongzheng;
Zhu, Wenmiao;
Yuan, Bo;
Walley, Nicole;
Schoch, Kelly;
Jiang, Yong‐Hui;
Phillips, John A.;
Jones, Melissa S.;
Liu, Pengfei;
Murdock, David R.;
Burrage, Lindsay C.;
Lee, Brendan;
Rosenfeld, Jill A.;
Xiao, Rui

Publication type:

Article

Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1643, doi. 10.1093/hmg/ddae105

By:

Dai, Hongzheng;
Ketkar, Shamika;
Tan, Taotao;
Atkinson, Elizabeth G;
Burrage, Lindsay;
Worley, Kim C;
Christopher, Brian;
Lyons, Marka A;
Assassi, Shervin;
Mayes, Maureen D;
Lee, Brendan

Publication type:

Article

Transcriptional Silencing of Arabidopsis Endogenes by Single-Stranded RNAs Targeting the Promoter Region.

Published in:

Plant & Cell Physiology, 2014, v. 55, n. 4, p. 823, doi. 10.1093/pcp/pcu025

By:

Deng, Shulin;
Dai, Hongzheng;
Arenas, Catalina;
Wang, Huan;
Niu, Qi-Wen;
Chua, Nam-Hai

Publication type:

Article

MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63868

By:

Kao, Eric C.;
Mizerik, Elizabeth A.;
Bacino, Carlos A.;
Dai, Hongzheng;
Vossaert, Liesbeth;
Scott, Daryl A.

Publication type:

Article

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399

By:

Ward, Scott K.;
Wadley, Alexandrea;
Tsai, Chun‐hui;
Benke, Paul J.;
Emrick, Lisa;
Fisher, Kristen;
Houck, Kimberly M.;
Dai, Hongzheng;
Acosta, Maria T.;
Adam, Margaret;
Adams, David R.;
Alvarez, Raquel L.;
Alvey, Justin;
Amendola, Laura;
Andrews, Ashley;
Ashley, Euan A.;
Bacino, Carlos A.;
Bademci, Guney;
Balasubramanyam, Ashok;
Baldridge, Dustin

Publication type:

Article

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747

By:

Merriweather, Ashanta;
Murdock, David R.;
Rosenfeld, Jill A.;
Dai, Hongzheng;
Ketkar, Shamika;
Emrick, Lisa;
Nicholas, Sarah;
Lewis, Richard A.;
Bacino, Carlos A.;
Scott, Daryl A.;
Lee, Brendan;
Sutton, Vernon Reid;
Potocki, Lorraine;
Burrage, Lindsay C.

Publication type:

Article

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704

By:

Magyar, Christina L.;
Murdock, David R.;
Burrage, Lindsay C.;
Dai, Hongzheng;
Lalani, Seema R.;
Lewis, Richard A.;
Lin, Yuezhen;
Astudillo, Marcela F.;
Rosenfeld, Jill A.;
Tran, Alyssa A.;
Gibson, James B.;
Bacino, Carlos A.;
Lee, Brendan H.;
Chao, Hsiao‐Tuan

Publication type:

Article

<italic>MPV17</italic>‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 461, doi. 10.1002/humu.23387

By:

El‐Hattab, Ayman W.;
Wang, Julia;
Dai, Hongzheng;
Almannai, Mohammed;
Staufner, Christian;
Alfadhel, Majid;
Gambello, Michael J.;
Prasun, Pankaj;
Raza, Saleem;
Lyons, Hernando J.;
Afqi, Manal;
Saleh, Mohammed A. M.;
Faqeih, Eissa A.;
Alzaidan, Hamad I.;
Alshenqiti, Abduljabbar;
Flore, Leigh Anne;
Hertecant, Jozef;
Sacharow, Stephanie;
Barbouth, Deborah S.;
Murayama, Kei

Publication type:

Article

Molecular and clinical spectra of FBXL4 deficiency.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341

By:

El-Hattab, Ayman W.;
Dai, Hongzheng;
Almannai, Mohammed;
Wang, Julia;
Faqeih, Eissa A.;
Al Asmari, Ali;
Saleh, Mohammed A. M.;
Elamin, Mohammed A. O.;
Alfadhel, Majid;
Alkuraya, Fowzan S.;
Hashem, Mais;
Aldosary, Mazhor S.;
Almass, Rawan;
Almutairi, Faten B.;
Alsagob, Maysoon;
Al-Owain, Mohammed;
Al-Sharfa, Shirin;
Al-Hassnan, Zuhair N.;
Rahbeeni, Zuhair;
Al-Muhaizea, Mohammed A.

Publication type:

Article

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).

Published in:

JBMR Plus, 2020, v. 4, n. 3, p. 1, doi. 10.1002/jbm4.10335

By:

Chen, Shan;
Jain, Mahim;
Jhangiani, Shalini;
Akdemir, Zeynep C;
Campeau, Philippe M;
Klein, Robert F;
Nielson, Carrie;
Dai, Hongzheng;
Muzny, Donna M;
Boerwinkle, Eric;
Gibbs, Richard A;
Orwoll, Eric S;
Lupski, James R;
Posey, Jennifer E;
Lee, Brendan

Publication type:

Article

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1488956

By:

Gorman, Elizabeth;
Dai, Hongzheng;
Feng, Yanming;
Craigen, William James;
Chen, David C. Y.;
Xia, Fan;
Meng, Linyan;
Liu, Pengfei;
Rigobello, Robert;
Neogi, Arpita;
Eng, Christine M.;
Wang, Yue

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

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 4, p. 656, doi. 10.1002/acn3.51742

By:

Müller, Peter;
Takacs, Danielle S.;
Hedrich, Ulrike B. S.;
Coorg, Rohini;
Masters, Laura;
Glinton, Kevin E.;
Dai, Hongzheng;
Cokley, Jon A.;
Riviello, James J.;
Lerche, Holger;
Cooper, Edward C.

Publication type:

Article

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Published in:

PLoS Genetics, 2023, v. 19, n. 11, p. 1, doi. 10.1371/journal.pgen.1011005

By:

Marom, Ronit;
Zhang, Bo;
Washington, Megan E.;
Song, I-Wen;
Burrage, Lindsay C.;
Rossi, Vittoria C.;
Berrier, Ava S.;
Lindsey, Anika;
Lesinski, Jacob;
Nonet, Michael L.;
Chen, Jian;
Baldridge, Dustin;
Silverman, Gary A.;
Sutton, V. Reid;
Rosenfeld, Jill A.;
Tran, Alyssa A.;
Hicks, M. John;
Murdock, David R.;
Dai, Hongzheng;
Weis, MaryAnn

Publication type:

Article

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979

By:

Panneerselvam, Sugi;
Wang, Julia;
Zhu, Wenmiao;
Dai, Hongzheng;
Pappas, John G.;
Rabin, Rachel;
Low, Karen J.;
Rosenfeld, Jill A.;
Emrick, Lisa;
Xiao, Rui;
Xia, Fan;
Yang, Yaping;
Eng, Christine M.;
Anderson, Anne;
Chau, Vann;
Soler‐Alfonso, Claudia;
Streff, Haley;
Lalani, Seema R.;
Mercimek‐Andrews, Saadet;
Bi, Weimin

Publication type:

Article

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01113-y

By:

Yuan, Bo;
Schulze, Katharina V.;
Assia Batzir, Nurit;
Sinson, Jefferson;
Dai, Hongzheng;
Zhu, Wenmiao;
Bocanegra, Francia;
Fong, Chin-To;
Holder, Jimmy;
Nguyen, Joanne;
Schaaf, Christian P.;
Yang, Yaping;
Bi, Weimin;
Eng, Christine;
Shaw, Chad;
Lupski, James R.;
Liu, Pengfei

Publication type:

Article

Highly Tissue Specific Expression of Sphinx Supports Its Male Courtship Related Role in Drosophila melanogaster.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018853

By:

Ying Chen;
Hongzheng Dai;
Sidi Chen;
Luoying Zhang;
Manyuan Long

Publication type:

Article

Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 2, p. 247, doi. 10.1002/pd.6419

By:

Zheng, Yu;
Wong, Lo;
Kwan, Angel Hoi Wan;
Dong, Zirui;
Kwok, Ka Yin;
Choy, Kwong Wai;
Dai, Hongzheng;
Cao, Ye

Publication type:

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

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232

By:

Keehan, Laura;
Jiang, Ming‐Ming;
Li, Xiaohui;
Marom, Ronit;
Dai, Hongzheng;
Murdock, David;
Liu, Pengfei;
Hunter, Jill V.;
Heaney, Jason D.;
Robak, Laurie;
Emrick, Lisa;
Lotze, Timothy;
Blieden, Lauren S.;
Lewis, Richard Alan;
Levin, Alex V.;
Capasso, Jenina;
Craigen, William J.;
Rosenfeld, Jill A.;
Lee, Brendan;
Burrage, Lindsay C.

Publication type:

Article

Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2751, doi. 10.1002/ajmg.a.61842

By:

Slater, Brady;
Glinton, Kevin;
Dai, Hongzheng;
Lay, Erica;
Karaviti, Lefkothea;
Mizerik, Elizabeth;
Murali, Chaya N.;
Lalani, Seema R.;
Bacino, Carlos A.;
Rossetti, Linda Z.

Publication type:

Article

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Published in:

2022

By:

Dahimene, Shehrazade;
Elsner, Leonie von;
Holling, Tess;
Mattas, Lauren S;
Pickard, Jess;
Lessel, Davor;
Pilch, Kjara S;
Kadurin, Ivan;
Pratt, Wendy S;
Zhulin, Igor B;
Dai, Hongzheng;
Hempel, Maja;
Ruzhnikov, Maura R Z;
Kutsche, Kerstin;
Dolphin, Annette C;
von Elsner, Leonie

Publication type:

journal article

The mycobacterium tuberculosis small heat shock protein Hsp16.3 exposes hydrophobic surfaces at mild conditions: Conformational flexibility and molecular chaperone activity.

Published in:

Protein Science: A Publication of the Protein Society, 1999, v. 8, n. 1, p. 174, doi. 10.1110/ps.8.1.174

By:

Yang, Hongmei;
Huang, Sufang;
Dai, Hongzheng;
Gong, Yandao;
Zheng, Changxue;
Chang, Zengyi

Publication type:

Article