Rizwan Hamid

Also affiliated with Vanderbilt University, National Human Genome Research Institute, National Institutes of Health Clinical Center, Vanderbilt University Medical Center

MedicineBiochemistry, 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 32 papers. Top paper: “Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network”.

Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.010

N/A

0.617DataRank · unranked

60 citations

Joy D. Cogan, John H. Newman, John A. Phillips, Rizwan Hamid, Jens Meiler +2 more

Molecular Function and Contribution of TBX4 in Development and Disease

American Journal of Respiratory and Critical Care Medicine(2022)10.1164/rccm.202206-1039tr

N/A

0.557DataRank · unranked

40 citations

Carrie L. Welch, Christian Mosimann, Katarzyna Bzdęga, James West, David Montani +16 more

Practical considerations for reinterpretation of individual genetic variants

Genetics in Medicine(2023)10.1016/j.gim.2023.100801

N/A

0.483DataRank · unranked

24 citations

Sara M. Berger, Elly Brokamp, H. Shelton Brown, Wylie Burke, Ellen Wright Clayton +14 more

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100131

N/A

0.373DataRank · unranked

11 citations

Thomas Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen +13 more

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

medRxiv(2022)10.1101/2022.02.01.21268115

N/A

0.191DataRank · unranked

1 citations

Thomas Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen +14 more

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.07.028

N/A

0.165DataRank · unranked

2 citations

Logan Smith, Lisa Bastarache, Kimberly Ezell, Yutaka Furuta, Rizwan Hamid +4 more

Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

Genetics in Medicine(2022)10.1016/j.gim.2022.06.002

N/A

0DataRank · unranked

29 citations

Paul S. Appelbaum, Karolynn Siegel, Julia Wynn, Akilan M. Saami, Elly Brokamp +5 more

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Genetics in Medicine(2023)10.1016/j.gim.2023.100925

N/A

0DataRank · unranked

75 citations

Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf +71 more

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309

N/A

0DataRank · unranked

19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 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

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63383

N/A

0DataRank · unranked

5 citations

Erica T. Nelson, Serena Neumann, John A. Phillips, Rizwan Hamid, Rory J. Tinker +5 more

Probable digenic inheritance of Diamond–Blackfan anemia

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63454

N/A

0DataRank · unranked

4 citations

Rory J. Tinker, Alican Gulsevin, Serena Neumann, Rizwan Hamid, Joy D. Cogan +7 more

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

Metabolites(2023)10.3390/metabo13030399

N/A

0DataRank · unranked

0 citations

John H. Newman, Laura Sommerville, John A. Phillips, Rizwan Hamid, Joy D. Cogan +5 more

Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models

Journal of Healthcare Informatics Research(2024)10.1007/s41666-023-00155-0

N/A

0DataRank · unranked

57 citations

Yan Hu, Lisa Bastarache, Alex Cheng, Rizwan Hamid, Paul A. Harris +2 more

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03423-3

N/A

0DataRank · unranked

8 citations

Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly Ezell, Devin Oglesbee +4 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

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63597

N/A

0DataRank · unranked

5 citations

Rory J. Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache, Rizwan Hamid +8 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

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

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

medRxiv(2024)10.1101/2024.09.27.24314092

N/A

0DataRank · unranked

0 citations

Nikhita Gogate, Kim Ezell, Jonathan C. Andrews, Sharayu Jangam, Paige I. Hall +19 more

Systematic method for classifying multiple congenital anomaly cases in electronic health records

Genetics in Medicine(2025)10.1016/j.gim.2025.101415

N/A

0DataRank · unranked

1 citations

Tyne W. Miller‐Fleming, Alexandra Scalici, Gillian W. Hooker, Rizwan Hamid, Digna R. Velez Edwards +9 more

A statistical framework for evaluating the repeatability and reproducibility of large language models

medRxiv(2025)10.1101/2025.08.06.25333170

N/A

0DataRank · unranked

14 citations

Boyu Ren, Chih-Yuan Hsu, Chao Yan, Rory J. Tinker, Thomas A. Cassini +7 more

RNA‐Seq and ChIP‐Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes

Pulmonary Circulation(2025)10.1002/pul2.70058

N/A

0DataRank · unranked

0 citations

Yan Ling, Joy D. Cogan, Lora K. Hedges, Bethany Nunley, Nick Negretti +5 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 more

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

Molecular Genetics & Genomic Medicine(2025)10.1002/mgg3.70165

N/A

0DataRank · unranked

0 citations

Kimberly Ezell, Rizwan Hamid, Joy D. Cogan, Thomas Cassini, Lynette Rives +23 more

Deconstructing the Melting Pot in Pulmonary Arterial Hypertension

American Journal of Respiratory and Critical Care Medicine(2020)10.1164/rccm.202001-0156ed

N/A

0DataRank · unranked

1 citations

Rizwan Hamid, Eric D. Austin

TG-Interacting Factor 1 expression quantitatively impacts survival in acute myeloid leukemia

medRxiv(2020)10.1101/2020.02.04.20020537

N/A

0DataRank · unranked

0 citations

Julie A. Means‐Powell, Danko Martincic, Vladimir D. Kravtsov, Yu Shyr, John P. Greer +6 more

KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models

International Journal of Molecular Sciences(2021)10.3390/ijms22095014

N/A

0DataRank · unranked

19 citations

Eric D. Austin, Elise Rizzi, Yan Ling, Harikrishna Tanjore, Amber Crabtree +9 more

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

Neurology(2021)10.1212/wnl.0000000000012143

N/A

0DataRank · unranked

15 citations

Karen M. Joos, John A. Phillips, Joy D. Cogan, John H. Newman, Rizwan Hamid +10 more

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Journal of Clinical Investigation(2022)10.1172/jci154942

N/A

0DataRank · unranked

37 citations

Erica T. Nelson, Lefkothea Karaviti, Joy D. Cogan, Rizwan Hamid, John A. Phillips +1 more