Güney Bademci

Also affiliated with Institute of Human Genetics, Dr. John T. Macdonald Foundation

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

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 46 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

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

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

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Journal of Clinical Investigation(2020)10.1172/jci136951

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0DataRank · unranked

18 citations

Clemer Abad, Filiz Başak Cengiz, Serhat Seyhan, Armağan İncesulu, Shengru Guo +14 more

Radixin modulates stereocilia function and contributes to cochlear amplification

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.11.944355

N/A

0DataRank · unranked

0 citations

Barbara Vona, Marta Diñeiro, María Costales, Rocío González‐Aguado, Ana Fontalba +8 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

N/A

0DataRank · 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

0DataRank · unranked

30 citations

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

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

European Journal of Human Genetics(2021)10.1038/s41431-021-00881-2

N/A

0DataRank · unranked

23 citations

Wen Yih Aw, Hui Yi Tee, Kaleb M. Naegeli, Güney Bademci, Mustafa Tekin +3 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +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

0DataRank · unranked

16 citations

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

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2204084119

N/A

0DataRank · unranked

9 citations

María Lachgar, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Müzeyyen Yıldırım Baylan +16 more

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population

Journal of American Association for Pediatric Ophthalmology and Strabismus(2022)10.1016/j.jaapos.2022.08.529

N/A

0DataRank · unranked

5 citations

Alana L. Grajewski, Mustafa Tekin, Güney Bademci, Ta Chen Chang, Maria Fernanda Villalba

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

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

Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Human Genomics(2023)10.1186/s40246-023-00556-7

N/A

0DataRank · unranked

11 citations

Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turçin Saridogan, Memoona Ramzan +11 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

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

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63193

N/A

0DataRank · unranked

4 citations

Paulo Borjas‐Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson +6 more

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

American Journal of Ophthalmology(2023)10.1016/j.ajo.2023.02.025

N/A

0DataRank · unranked

2 citations

Chris M. Li, Parastou Pakravan, Güney Bademci, Ta Chen Chang, Maria Fernanda Villalba

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 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

0DataRank · unranked

37 citations

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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +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

0DataRank · unranked

9 citations

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

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 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

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

European Journal of Human Genetics(2024)10.1038/s41431-024-01562-6

N/A

0DataRank · unranked

6 citations

Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Özgül M. Alper +9 more

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51963

N/A

0DataRank · unranked

3 citations

Güney Bademci, Stephan Züchner, Médéric Jeanne, Nicholas A. Borja, Danique Beijer +8 more

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Journal of Medical Genetics(2024)10.1136/jmg-2024-109908

N/A

0DataRank · unranked

2 citations

Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart, Sakir H. Gultekin, Undiagnosed Diseases Network +3 more

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63563

N/A

0DataRank · unranked

1 citations

Memoona Ramzan, Aslı Subaşıoğlu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan +7 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

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.018

N/A

0DataRank · unranked

17 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +19 more

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.019

N/A

0DataRank · unranked

7 citations

Jonathan C. Andrews, Daniel F. Eberl, Güney Bademci, Nicholas A. Borja, Stephanie Bivona +8 more

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64281

N/A

0DataRank · unranked

1 citations

Dayna Morel Swols, Güney Bademci, Mustafa Tekin, Ryan Chen

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

Scientific Reports(2025)10.1038/s41598-024-84205-6

N/A

0DataRank · unranked

4 citations

Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart +6 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

0DataRank · unranked

1 citations

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

Carboxypeptidase D deficiency causes hearing loss amenable to treatment

Journal of Clinical Investigation(2025)10.1172/jci192090

N/A

0DataRank · unranked

1 citations

Natalie Ortiz-Vega, Mohammad Faraz Zafeer, Amanda G. Lobato, Tahir Atık, Clemer Abad +25 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

medRxiv(2025)10.1101/2025.01.02.24318941

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +20 more

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

0DataRank · unranked

70 citations

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

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations

Ophthalmic Genetics(2025)10.1080/13816810.2025.2582609

N/A

0DataRank · unranked

0 citations

Alejandro M Perez, Carson Smith, Ta Chen Chang, Güney Bademci, Sujin Kang

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Radixin modulates the function of outer hair cell stereocilia

Communications Biology(2020)10.1038/s42003-020-01506-y

N/A

0DataRank · unranked

15 citations

Barbara Vona, Marta Diñeiro, María Costales, Rocío González‐Aguado, Ana Fontalba +8 more