🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Irman Forghani

Mount Sinai Medical Center

ORCID: 0000-0002-5484-5186
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 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 14 papers. Top paper: “Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment”.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8
N/A
0.605DataRank · unranked
18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001
N/A
0.345DataRank · unranked
9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x
N/A
0.292DataRank · unranked
6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012
N/A
0DataRank · unranked
8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537
N/A
0DataRank · unranked
7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833
N/A
0DataRank · unranked
6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115
N/A
0DataRank · unranked
6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63556
N/A
0DataRank · unranked
6 citations

Steven Lang, Matthew J. Rodier, Stephanie Bivona, Undiagnosed Diseases Network, Alejo A. Morales +4 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218
N/A
0DataRank · unranked
4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010
N/A
0DataRank · unranked
2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8
N/A
0DataRank · unranked
26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9
N/A
0DataRank · unranked
0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001
N/A
0DataRank · unranked
1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897
N/A
0DataRank · unranked
10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more