Joy D. Cogan

Biochemistry, Genetics and Molecular BiologyMedicine

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 45 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

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

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

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0.553DataRank · unranked

39 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0.533DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0.515DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 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

0.494DataRank · unranked

26 citations

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

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0.425DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 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

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0.373DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +89 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

0.360DataRank · unranked

10 citations

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

0.359DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, 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

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

0.312DataRank · unranked

7 citations

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

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

0.292DataRank · unranked

6 citations

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

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0.269DataRank · unranked

5 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 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

0.241DataRank · unranked

4 citations

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

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

0.170DataRank · unranked

1 citations

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

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

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0.165DataRank · unranked

2 citations

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

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0.104DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64233

N/A

0.104DataRank · unranked

1 citations

Kimberly Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan +16 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

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101145

N/A

0DataRank · unranked

0 citations

Yutaka Furuta, Devin Oglesbee, Enikö K. Pivnick, David C. Rinker, Jonathan H. Sheehan +9 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

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

Neurogenetics(2025)10.1007/s10048-025-00835-6

N/A

0DataRank · unranked

0 citations

Russell J. Stewart, Yutaka Furuta, Kimberly Ezell, Lynette Rives, Bethany Nunley +12 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

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

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +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

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

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

WebSeq: A Genomic Data Analytics Platform for Monogenic Disease Discovery

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.16.460500

N/A

0DataRank · unranked

0 citations

Kshitiz Ghimire, Joy D. Cogan, Undiagnosed Disease Network, Janet Markle, Milind Agarwal

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

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 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

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