Michael J. Bamshad

Overview

Best Publications

• Targeted capture and massively parallel sequencing of 12 human exomes

  Sarah B H Ng;Emily H. Turner;Peggy D. Robertson;Steven D. Flygare

  2561
  Citations

• Exome sequencing identifies the cause of a Mendelian disorder

  Sarah B H Ng;Kati J. Buckingham;Choli Lee;Abigail W. Bigham

  2467
  Citations

• Exome sequencing as a tool for Mendelian disease gene discovery

  Michael J. Bamshad;Sarah B. Ng;Abigail W. Bigham;Abigail W. Bigham;Holly K. Tabor;Holly K. Tabor

  2062
  Citations

• Evolution and functional impact of rare coding variation from deep sequencing of human exomes

  Jacob A. Tennessen;Abigail W. Bigham;Timothy D. O'Connor;Wenqing Fu

  1862
  Citations

• Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

  Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  1570
  Citations

• The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

  Swapan Mallick;Swapan Mallick;Swapan Mallick;Heng Li;Mark Lipson;Iain Mathieson

  1500
  Citations

• The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility

  Enrique Gonzalez;Hemant Kulkarni;Hector Bolivar;Andrea Mangano

  1425
  Citations

• Analysis of genetic inheritance in a family quartet by whole-genome sequencing

  Jared C. Roach;Gustavo Glusman;Arian F. A. Smit;Chad D. Huff;Chad D. Huff

  1297
  Citations

• Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

  Seunggeun Lee;Mary J. Emond;Michael J. Bamshad;Kathleen C. Barnes

  1168
  Citations

• Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

  Wenqing Fu;Timothy D. O’Connor;Goo Jun;Hyun Min Kang

  1157
  Citations

• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

  Jacopo Celli;Pascal Duijf;Ben C.J Hamel;Michael Bamshad

  868
  Citations

• Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

  Ian D. Krantz;Jennifer McCallum;Cheryl DeScipio;Maninder Kaur

  829
  Citations

• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

  Ron Do;Ron Do;Nathan O. Stitziel;Hong Hee Won;Hong Hee Won;Anders Berg Jørgensen

  723
  Citations

• NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

  Emma T Tonkin;Tzu-Jou Wang;Steven Lisgo;Michael J Bamshad

  719
  Citations

• The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

  Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  710
  Citations

• Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

  Richard J.L.F. Lemmers;Rabi Tawil;Lisa M. Petek;Judit Balog

  670
  Citations

• Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

  M Bamshad;R C Lin;D J Law;W C Watkins

  643
  Citations

• The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data

  Lynn B. Jorde;W. S. Watkins;M. J. Bamshad;M. E. Dixon

  620
  Citations

• Signatures of natural selection in the human genome

  Michael Bamshad;Stephen P. Wooding

  598
  Citations

• Genetic Evidence on the Origins of Indian Caste Populations

  Michael Bamshad;Toomas Kivisild;W. Scott Watkins;Mary E. Dixon

  506
  Citations