Haowei Du

ScholarGPS® ID: 61349703371524

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics | Epilepsy

Metrics Summary

Publication Count

Predicted Citations

112

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy (journal article) Dardas, Zain \| Fatih, Jawid M. \| Jolly, Angad \| Dawood, Moez \| Du, Haowei \| Grochowski, Christopher M. \| Jones, Edward G. \| Jhangiani, Shalini N. \| Wehrens, Xander H. T. \| Liu, Pengfei \| ... \| Morris, Shaine A. Genome Medicine, volume 16, issue 1 (2024). 10.1186/s13073-024-01312-9 Cite \| Source
P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits (journal article) Duan, Ruizhi \| Du, Haowei \| Dardas, Zain \| Lupski, James Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101540 Cite \| Source
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia (journal article) Zemet, Roni \| Du, Haowei \| Gambin, Tomasz \| Lupski, James R. \| Liu, Pengfei \| Stankiewicz, Paweł Human Genetics, volume 142, issue 6, pages 721-733 (2023). 10.1007/s00439-023-02550-4 Cite \| Source
Novel RETREG1 ( FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family (journal article) Taşdelen, Elifcan \| Calame, Daniel G. \| Akay, Gulsen \| Mitani, Tadahiro \| Fatih, Jawid M. \| Herman, Isabella \| Du, Haowei \| Coban‐Akdemir, Zeynep \| Marafi, Dana \| Jhangiani, Shalini N. \| ... \| Pehlivan, Davut American Journal of Medical Genetics Part A, volume 188, issue 7, pages 2153-2161 (2022). 10.1002/ajmg.a.62727 Cited by (4) \| Cite \| Source
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses (journal article) Herman, Isabella \| Jolly, Angad \| Du, Haowei \| Dawood, Moez \| Abdel‐Salam, Ghada M. H. \| Marafi, Dana \| Mitani, Tadahiro \| Calame, Daniel G. \| Coban‐Akdemir, Zeynep \| Fatih, Jawid M. \| ... \| Lupski, James R. American Journal of Medical Genetics Part A, volume 188, issue 3, pages 735-750 (2022). 10.1002/ajmg.a.62565 Cited by (13) \| Cite \| Source
Expanding the phenotypic and allelic spectrum of SMG8 : Clinical observations reveal overlap with associated disease trait (journal article) Abdel‐Salam, Ghada M. H. \| Duan, Ruizhi \| Abdel‐Hamid, Mohamed S. \| Sayed, Inas S. M. \| Jhangiani, Shalini N. \| Khan, Ziad \| Du, Haowei \| Gibbs, Richard A. \| Posey, Jennifer E. \| Marafi, Dana \| Lupski, James R. American Journal of Medical Genetics Part A, volume 188, issue 2, pages 648-657 (2022). 10.1002/ajmg.a.62561 Cited by (4) \| Cite \| Source
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy (journal article) Calame, Daniel G. \| Bakhtiari, Somayeh \| Logan, Rachel \| Coban-Akdemir, Zeynep \| Du, Haowei \| Mitani, Tadahiro \| Fatih, Jawid M. \| Hunter, Jill V. \| Herman, Isabella \| Pehlivan, Davut \| ... \| Lupski, James R. Genetics in Medicine, volume 23, issue 12, pages 2455-2460 (2021). 10.1038/s41436-021-01291-x Cited by (8) \| Cite \| Source
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant (journal article) Calame, Daniel G. \| Fatih, Jawid M. \| Herman, Isabella \| Coban‐Akdemir, Zeynep \| Du, Haowei \| Mitani, Tadahiro \| Jhangiani, Shalini N. \| Marafi, Dana \| Gibbs, Richard A. \| Posey, Jennifer E. \| ... \| Lupski, James R. Annals of Clinical and Translational Neurology, volume 8, issue 10, pages 2052-2058 (2021). 10.1002/acn3.51454 Cited by (1) \| Cite \| Source
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome (journal article) Grochowski, Christopher M. \| Krepischi, Ana C. V. \| Eisfeldt, Jesper \| Du, Haowei \| Bertola, Debora R. \| Oliveira, Danyllo \| Costa, Silvia S. \| Lupski, James R. \| Lindstrand, Anna \| Carvalho, Claudia M. B. Frontiers in Genetics, volume 12 (2021). 10.3389/fgene.2021.708348 Cited by (5) \| Cite \| Source
Risk of sudden cardiac death in EXOSC5 ‐related disease (journal article) Calame, Daniel G. \| Herman, Isabella \| Fatih, Jawid M. \| Du, Haowei \| Akay, Gulsen \| Jhangiani, Shalini N. \| Coban‐Akdemir, Zeynep \| Milewicz, Dianna M. \| Gibbs, Richard A. \| Posey, Jennifer E. \| ... \| Miyake, Christina Y. American Journal of Medical Genetics Part A, volume 185, issue 8, pages 2532-2540 (2021). 10.1002/ajmg.a.62352 Cited by (7) \| Cite \| Source
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy (journal article) Duan, Ruizhi \| Saadi, Nebal Waill \| Grochowski, Christopher M. \| Bhadila, Ghalia \| Faridoun, Afnan \| Mitani, Tadahiro \| Du, Haowei \| Fatih, Jawid M. \| Jhangiani, Shalini N. \| Akdemir, Zeynep C. \| ... \| Lupski, James R. American Journal of Medical Genetics Part A, volume 185, issue 7, pages 1972-1980 (2021). 10.1002/ajmg.a.62192 Cited by (14) \| Cite \| Source
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy (journal article) Calame, Daniel G. \| Fatih, Jawid \| Herman, Isabella \| Akdemir, Zeynep Coban \| Du, Haowei \| Jhangiani, Shalini N. \| Gibbs, Richard A. \| Marafi, Dana \| Pehlivan, Davut \| Posey, Jennifer E. \| ... \| Lupski, James R. Neurology Genetics, volume 7, issue 3 (2021). 10.1212/NXG.0000000000000589 Cited by (7) \| Cite \| Source
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant (journal article) Saad, Ahmed K. \| Marafi, Dana \| Mitani, Tadahiro \| Du, Haowei \| Rafat, Karima \| Fatih, Jawid M. \| Jhangiani, Shalini N. \| Coban‐Akdemir, Zeynep \| Gibbs, Richard A. \| Pehlivan, Davut \| ... \| Lupski, James R. American Journal of Medical Genetics Part A, volume 185, issue 4, pages 1288-1293 (2021). 10.1002/ajmg.a.62100 Cited by (11) \| Cite \| Source
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L ‐related syndrome (journal article) Wild, K. Taylor \| Gordon, Tia \| Bhoj, Elizabeth J. \| Du, Haowei \| Jhangiani, Shalini N. \| Posey, Jennifer E. \| Lupski, James R. \| Scott, Daryl A. \| Zackai, Elaine H. American Journal of Medical Genetics Part A, volume 182, issue 12, pages 2919-2925 (2020). 10.1002/ajmg.a.61878 Cited by (7) \| Cite \| Source
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy (journal article) Saad, Ahmed K \| Marafi, Dana \| Mitani, Tadahiro \| Jolly, Angad \| Du, Haowei \| Elbendary, Hasnaa M \| Jhangiani, Shalini N \| Akdemir, Zeynep C \| Gibbs, Richard A \| Hunter, Jill V \| ... \| Lupski, James R Brain, volume 143, issue 10, pages e83-e83 (2020). 10.1093/brain/awaa256 Cited by (7) \| Cite \| Source
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy (journal article) Marafi, Dana \| Mitani, Tadahiro \| Isikay, Sedat \| Hertecant, Jozef \| Almannai, Mohammed \| Manickam, Kandamurugu \| Abou Jamra, Rami \| El‐Hattab, Ayman W. \| Rajah, Jaishen \| Fatih, Jawid M. \| ... \| Lupski, James R. Annals of Clinical and Translational Neurology, volume 7, issue 5, pages 610-627 (2020). 10.1002/acn3.51003 Cited by (14) \| Cite \| Source