Concepedia

Proband Analysis

Proband Analysis is a methodological approach in genetic and familial research that focuses on the systematic examination of the proband—the initially identified subject exhibiting a trait or condition of interest—to infer patterns of inheritance, disease etiology, or phenotypic expression within a pedigree.

127

Publications

7.9K

Citations

812

Authors

308

Institutions

Publications per year

2017–2026

19

Variants

Index Case Analysis

Parents

Publications

127

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 603 citations · Full text

, , +14

The Familial Aggregation of Obstructive Sleep Apnea

Susan Redline, Peter V. Tishler, Tor D. Tosteson et al. · American Journal of Respiratory and Critical Care Medicine · 1995 · 445 citations

, , +14

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Bridget A. Fernandez, Wendy Roberts, Brian Hon‐Yin Chung et al. · Journal of Medical Genetics · 2009 · 351 citations

, , +17

Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees

Andrew Pickles, E. Starr, S. Kazak et al. · Journal of Child Psychology and Psychiatry · 2000 · 286 citations

, , +13

Forty four probands with an additional ?marker? chromosome

K.E. Buckton, G. Spowart, M. S. NEWTON et al. · Human Genetics · 1985 · 230 citations

, , +9

1–5 of 127

Authors

812

  1. LZ
    Lonnie Zwaigenbaum

    University of Alberta, Canada

    4 publications · 394 citations

    4

    h-index

  2. KS
    Kenneth S. Kendler

    Virginia Commonwealth University, United States

    3 publications · 69 citations

    3

    h-index

  3. PS
    Péter Szatmári

    McMaster University, Canada

    3 publications · 513 citations

    3

    h-index

  4. SR
    Susan Redline

    Brigham and Women's Hospital, United States

    3 publications · 543 citations

    3

    h-index

  5. SE
    Susan E. Bryson

    Dalhousie University, Canada

    3 publications · 368 citations

    3

    h-index

1–5 of 812

Institutions

308

  1. Johns Hopkins University

    Baltimore, United States

    7 h-index

    35 publications

    5.5K citations

  2. Harvard University

    Cambridge, United States

    5 h-index

    13 publications

    1.2K citations

  3. Johns Hopkins Medicine

    Baltimore, United States

    5 h-index

    25 publications

    2.9K citations

  4. Columbia University

    New York, United States

    5 h-index

    14 publications

    752 citations

  5. Columbia University Irving Medical Center

    New York, United States

    5 h-index

    10 publications

    379 citations

  6. Virginia Commonwealth University Medical Center

    Richmond, United States

    4 h-index

    4 publications

    109 citations

  7. Washington University in St. Louis

    St Louis, United States

    4 h-index

    24 publications

    2.1K citations

  8. Hospital for Sick Children

    Toronto, Canada

    4 h-index

    14 publications

    2.7K citations

1–8 of 308

Venues

  1. PubMed

    Repository · 8 publications · 257 citations

    8

    h-index

  2. Journal of Child Psychology and Psychiatry

    5 publications · 507 citations

    5

    h-index

  3. American Journal of Medical Genetics

    5 publications · 126 citations

    5

    h-index

  4. PLoS ONE

    4 publications · 93 citations

    4

    h-index

  5. Human Mutation

    3 publications · 283 citations

    3

    h-index

1–5