K. Shively

发表

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Variants regulating ZBTB4 are associated with age‐at‐onset of Alzheimer's disease

E. Wijsman, M. Bamshad, T. Thornton, 2018, Genes, brain, and behavior.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Jeffrey M. Weiss, D. Nickerson, S. Leal, 2018, BMC Medical Genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Gao T. Wang, G. Abecasis, J. Shendure, 2017, Scientific Reports.

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

J. Mullins, J. Baeten, M. Bamshad, 2017, PLoS pathogens.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

L. Hazrati, M. Bamshad, M. Regnier, 2023, medRxiv.

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

M. Bamshad, M. Regnier, J. Carey, 2013, American journal of medical genetics. Part A.

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Jeffrey M. Weiss, G. Carvill, H. Mefford, 2022, medRxiv.

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

M. Bamshad, K. Buckingham, M. McMillin, 2013, Mammalian Genome.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

D. Nickerson, M. Bamshad, K. Buckingham, 2020, bioRxiv.

Genotype‐phenotype relationships in Freeman–Sheldon syndrome

M. Bamshad, M. McMillin, A. Beck, 2014, American journal of medical genetics. Part A.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

L. Hazrati, M. Bamshad, M. Regnier, 2023, HGG advances.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Jeffrey M. Weiss, Karynne E. Patterson, Gao T. Wang, 2016, American journal of human genetics.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Emily H Turner, J. Shendure, J. Swanson, 2013, American journal of human genetics.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

L. Hazrati, M. Bamshad, M. Regnier, 2023, HGG advances.