Claudia M.B. Carvalho

Pacific Northwest Diabetes Research Institute

ORCID: 0000-0002-2090-298X

Also affiliated with Baylor College of Medicine

Biochemistry, Genetics and Molecular BiologyAgricultural 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

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 23 papers. Top paper: “High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population”.

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

Complex genomic rearrangements: an underestimated cause of rare diseases

Trends in Genetics(2022)10.1016/j.tig.2022.06.003

N/A

0.657DataRank · unranked

79 citations

Christopher M. Grochowski, Claudia M.B. Carvalho, Anna Lindstrand, Jakob Schuy

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

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Genetics in Medicine(2014)10.1038/gim.2013.155

N/A

0.542DataRank · unranked

36 citations

Meryem Tuba Goksungur, Davut Pehlivan, Christine R. Beck, Claudia Gonzaga-Jauregui, Donna M. Muzny +11 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

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research(2024)10.1101/gr.279346.124

N/A

0.396DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

Human Molecular Genetics(2024)10.1093/hmg/ddae135

N/A

0.383DataRank · unranked

10 citations

Yehezkel Sztainberg, Alexander J. Trostle, Harini P Tirumala, Ying‐Wooi Wan, Caroline L Harrop +10 more

Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome

Stem Cell Research(2023)10.1016/j.scr.2023.103292

N/A

0DataRank · unranked

2 citations

Gerarda Cappuccio, Jennifer L. Sheppard, Magdalena Delacruz, Jesse D. Bengtsson, Claudia M.B. Carvalho +9 more

Detection of mosaic and population-level structural variants with Sniffles2

Nature Biotechnology(2024)10.1038/s41587-023-02024-y

N/A

0DataRank · unranked

448 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 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

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human Mutation(2020)10.1002/humu.24106

N/A

0DataRank · unranked

27 citations

Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung +11 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

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

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 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

Constellation illuminates rare disease genetics

medRxiv(2025)10.1101/2025.10.15.25337675

N/A

0DataRank · unranked

0 citations

Qing Zhang, Xinchang Zheng, Shalini N. Jhangiani, Jacqueline Weir, Jesse Farek +15 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

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.04.487055

N/A

0DataRank · unranked

97 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 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