Haowei Du

Also affiliated with Chang'an University, CCCC Highway Consultants (China), Green Chemistry

Biochemistry, Genetics and Molecular BiologyComputer ScienceAgricultural and Biological Sciences

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 33 papers. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0.697DataRank · unranked

103 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0.396DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation

medRxiv(2024)10.1101/2024.12.01.24318253

N/A

0.312DataRank · unranked

7 citations

Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du +5 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.1

N/A

0.208DataRank · unranked

3 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Human Genetics(2023)10.1007/s00439-023-02550-4

N/A

0.165DataRank · unranked

2 citations

Haowei Du, Tomasz Gambin, James R. Lupski, Pengfei Liu, Paweł Stankiewicz +1 more

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics(2024)10.1016/j.xgen.2024.100590

N/A

0DataRank · unranked

33 citations

Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey +22 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Medicine(2024)10.1186/s13073-024-01312-9

N/A

0DataRank · unranked

15 citations

Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski +13 more

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

European Journal of Human Genetics(2024)10.1038/s41431-024-01680-1

N/A

0DataRank · unranked

8 citations

Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy, Christopher M. Grochowski +10 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.10.27.620363

N/A

0DataRank · unranked

2 citations

Ming Yin Lun, Lidiia Gagarina, Michele G. Mehaffey, James Paul Hwang, Shalini N. Jhangiani +11 more

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

Research Square(2024)10.21203/rs.3.rs-3949622/v1

N/A

0DataRank · unranked

0 citations

Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy +10 more

Improving automated deep phenotyping through large language models using retrieval-augmented generation

Genome Medicine(2025)10.1186/s13073-025-01521-w

N/A

0DataRank · unranked

15 citations

Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du +5 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51003

N/A

0DataRank · unranked

30 citations

Tadahiro Mitani, Sedat Işıkay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam +19 more

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families

medRxiv(2025)10.64898/2025.12.28.25342917

N/A

0DataRank · unranked

1 citations

Angad Jolly, Ahmed Khairy Saad, Haowei Du, Lauren Westerfield, Chloe Munderloh +14 more

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

F1000Research(2020)10.12688/f1000research.23773.1

N/A

0DataRank · unranked

0 citations

Alejandro R. Gener, Michael M. Khayat, Adam C. English, Advait Balaji, Anbo Zhou +41 more

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000589

N/A

0DataRank · unranked

16 citations

Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Shalini N. Jhangiani +9 more

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51454

N/A

0DataRank · unranked

2 citations

Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani +12 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.2

N/A

0DataRank · unranked

2 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62727

N/A

0DataRank · unranked

8 citations

Daniel G. Calame, Gülsen Akay, Tadahiro Mitani, Jawid M. Fatih, Isabella Herman +11 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013

N/A

0DataRank · unranked

43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

Research Square(2023)10.21203/rs.3.rs-2628288/v1

N/A

0DataRank · unranked

0 citations

Haowei Du, Tomasz Gambin, Pengfei Liu, James R. Lupski, Paweł Stankiewicz +1 more