Isabella Herman

Also affiliated with Baylor College of Medicine, Boys Town National Research Hospital

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 7%percentile

0.165Author DataRank

Indexed papers

1in 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 1 indexed paper 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Papers

Driven by 20 papers — median percentile 30. 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

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

A systematic-review of olfactory deficits in neurodevelopmental disorders: From mouse to human

Neuroscience & Biobehavioral Reviews(2021)10.1016/j.neubiorev.2021.02.024

N/A

0DataRank · unranked

36 citations

Isabella Herman, Patrick J. Hunt, Benjamin R. Arenkiel, Ariel M. Lyons‐Warren

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62221

N/A

0DataRank · unranked

18 citations

Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip +17 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

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

0DataRank · unranked

13 citations

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

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 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

0DataRank · unranked

11 citations

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

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101915

N/A

0DataRank · unranked

1 citations

Julian C. Lui, Dana Marafi, Zhi‐Jie Xia, Ruchika Bhatia, Elaine Zhou +21 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

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Molecular Psychiatry(2025)10.1038/s41380-025-03279-4

N/A

0DataRank · unranked

7 citations

Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Dirk Alexander Wittekind +27 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 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

0DataRank · unranked

102 citations

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

Isabella Herman

Indexed papers

Top data-sharing exemplar

Papers