Shalini N. Jhangiani

Biochemistry, Genetics and Molecular Biology

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 4%percentile

0.735Author 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 →

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

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

Scientific Data(2025)10.1038/s41597-025-05438-2

Top 44%

0.421DataRank

Top 44%10 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Anthony Schmitt, Kenneth D. Cole +80 more

Papers

Driven by 41 papers — median percentile 51. Top paper: “The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities”.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002

N/A

0.561DataRank · unranked

41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 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

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

Scientific Data(2025)10.1038/s41597-025-05438-2

Top 44%

0.421DataRank

Top 44%10 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Anthony Schmitt, Kenneth D. Cole +80 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

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.18.613544

Top 54%

0.314DataRank

Top 54%6 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Kenneth D. Cole, Alexander A. Gooden +78 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234

N/A

0DataRank · unranked

1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 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

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.12.014

N/A

0DataRank · unranked

90 citations

Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan +72 more

Exome variant discrepancies due to reference-genome differences

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.011

N/A

0DataRank · unranked

66 citations

Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan +8 more

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Human Genetics(2021)10.1007/s00439-021-02300-4

N/A

0DataRank · unranked

44 citations

Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing +25 more

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.07.015

N/A

0DataRank · unranked

24 citations

Olive S. Eckstein, Nitya Gulati, Erin C. Peckham‐Gregory, Nmazuo Ozuah, Joseph Lubega +26 more

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young

Pediatric Diabetes(2021)10.1111/pedi.13257

N/A

0DataRank · unranked

18 citations

Claudia Soler‐Alfonso, Katie Chan, Michael M. Khayat, Shalini N. Jhangiani, Qingchang Meng +9 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

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

PLoS Genetics(2023)10.1371/journal.pgen.1011005

N/A

0DataRank · unranked

12 citations

Bo Zhang, Megan Washington, I-Wen Song, Lindsay C. Burrage, Vittoria Rossi +28 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

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits

Clinical Genetics(2023)10.1111/cge.14348

N/A

0DataRank · unranked

7 citations

Dana Marafi, Ahmed K. Saad, Rasha M. Elhossini, Ruizhi Duan, Karima Rafat +8 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

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

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101901

N/A

0DataRank · unranked

3 citations

Xi Yao, Saumya D. Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw +16 more

Closing the gap: Solving complex medically relevant genes at scale

medRxiv(2024)10.1101/2024.03.14.24304179

N/A

0DataRank · unranked

11 citations

John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, HarshaVardhan Doddapaneni +19 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

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

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

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

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

Enriching for Answers in Rare Diseases

medRxiv(2025)10.1101/2025.10.21.25338483

N/A

0DataRank · unranked

0 citations

Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, George Weissenberger, Vanessa Vee +7 more

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Science(2020)10.1126/science.aay5663

N/A

0DataRank · unranked

100 citations

William A. Comrie, M. Cecilia Poli, Morgan N Similuk, Andrew J. Oler, Aiman Faruqi +34 more

Human NK cell deficiency as a result of biallelic mutations in MCM10

Journal of Clinical Investigation(2020)10.1172/jci134966

N/A

0DataRank · unranked

71 citations

Silke Paust, Matilde Immacolata Conte, Ryan M. Baxley, Megan Schmit, Sagar L. Patil +23 more

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Genetics in Medicine(2020)10.1038/s41436-020-0897-z

N/A

0DataRank · unranked

63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 more

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Journal of Clinical Investigation(2020)10.1172/jci131297

N/A

0DataRank · unranked

23 citations

Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh +16 more

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 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

Shalini N. Jhangiani

Indexed papers

Top data-sharing exemplar

Papers