V. Reid Sutton

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 29 papers. 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

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

American Journal on Intellectual and Developmental Disabilities(2020)10.1352/1944-7558-125.6.475

N/A

0DataRank · unranked

64 citations

Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett +25 more

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

Genetics in Medicine(2020)10.1038/s41436-020-0827-0

N/A

0DataRank · unranked

53 citations

Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton +2 more

Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles

Bone(2020)10.1016/j.bone.2020.115547

N/A

0DataRank · unranked

12 citations

Marie‐Eve Robinson, Cristián Seiltgens, V. Reid Sutton, Brendan Lee, Francis H. Glorieux +2 more

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European Journal of Human Genetics(2020)10.1038/s41431-020-0632-x

N/A

0DataRank · unranked

40 citations

Gözde Yeşil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru +32 more

Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta

The Journal of the American Dental Association(2020)10.1016/j.adaj.2020.03.040

N/A

0DataRank · unranked

24 citations

Sreenath Madathil, Frank Rauch, V. Reid Sutton, Brendan Lee, Jean-Marc Retrouvey +19 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

N/A

0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 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

A noncoding RNA modulator potentiates phenylalanine metabolism in mice

Science(2021)10.1126/science.aba4991

N/A

0DataRank · unranked

76 citations

Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, Ke Liang +31 more

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

JAMA Network Open(2021)10.1001/jamanetworkopen.2021.14155

N/A

0DataRank · unranked

74 citations

Jing Xiao, Charul Gijavanekar, Kirk L. Pappan, Kevin E. Glinton, Brian J. Shayota +5 more

Health‐related quality of life in adults with osteogenesis imperfecta

Clinical Genetics(2021)10.1111/cge.13939

N/A

0DataRank · unranked

28 citations

Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner +7 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

0DataRank · 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

0DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Bone(2021)10.1016/j.bone.2021.115917

N/A

0DataRank · unranked

19 citations

Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey +23 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

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.005

N/A

0DataRank · unranked

29 citations

Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton +15 more

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

N/A

0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 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

Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP

Bone(2022)10.1016/j.bone.2022.116516

N/A

0DataRank · unranked

5 citations

Karissa Ludwig, Francis H. Glorieux, Brendan Lee, V. Reid Sutton, Jean-Marc Retrouvey +2 more

A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63323

N/A

0DataRank · unranked

13 citations

Alyssa Hertz, Andrew D. Wiese, Kristin M. Kostick, Dianne Nguyen, Sophie C. Schneider +8 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

Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

International Journal of Neonatal Screening(2023)10.3390/ijns9030050

N/A

0DataRank · unranked

3 citations

Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton +4 more

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.101001

N/A

0DataRank · unranked

2 citations

Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault +10 more

Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta

Disability and Rehabilitation(2024)10.1080/09638288.2024.2358903

N/A

0DataRank · unranked

5 citations

Whitney S. Shepherd, Gianna M. Colombo, Andrew D. Wiese, W. Conor Rork, Kristin M. Kostick +10 more

Qualitative investigation of school experiences in children with osteogenesis imperfecta

Children s Health Care(2024)10.1080/02739615.2024.2403482

N/A

0DataRank · unranked

3 citations

Andrew D. Wiese, Whitney S. Shepherd, Gianna M. Colombo, Selena Guo, Justin Qian +14 more

Mindful self-compassion to reduce pain interference among adults with osteogenesis imperfecta

Research Square(2024)10.21203/rs.3.rs-4582869/v1

N/A

0DataRank · unranked

0 citations

Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V. Reid Sutton +5 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.

Families Systems & Health(2025)10.1037/fsh0001004

N/A

0DataRank · unranked

0 citations

Andrew D. Wiese, Amelia Mercado, Whitney S. Shepherd, Michelle L. Fynan, Kara Ayers +14 more

Two commonly reported incidental variants in OTC are associated with late-onset disease

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100531

N/A

0DataRank · unranked

0 citations

Russell S. Lo, Gareth A. Cromie, Aimée M. Dudley, Nicholas Ah Mew, Kara Simpson +9 more