P. Kleyn

发表

Identification and Characterization of the Mouse Obesity Gene tubby: A Member of a Novel Gene Family

C. Ebeling, G. Carlson, T. Brody, 1996, Cell.

Klotho Gene Polymorphisms Associated With Bone Density of Aged Postmenopausal Women

T. Spector, Kozo Nakamura, S. Inoue, 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Targeted Deletion of the tub Mouse Obesity Gene Reveals that tubby Is a Loss-of-Function Mutation

H. Stubdal, A. Moriarty, D. Huszar, 2000, Molecular and Cellular Biology.

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

G. Penchaszadeh, T. Carter, E. Vitale, 1995, American journal of human genetics.

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.

T. Gilliam, J. Knowles, G. Penchaszadeh, 1993, Genomics.

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

A. Grunn, E. Vitale, D. Warburton, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

L. Kunkel, T. Gilliam, D. Ward, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Current Mechanistic and Pharmacodynamic Understanding of Melanocortin-4 Receptor Activation

B. Shah, A. Garfield, L. V. D. van der Ploeg, 2019, Molecules.

Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.

T. Gilliam, G. Penchaszadeh, I. Hausmanowa-Petrusewicz, 1995, American journal of human genetics.

High resolution physical map of the region surrounding the spinal muscular atrophy gene.

J. McPherson, T. Gilliam, K. Davies, 1993, Human molecular genetics.

Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36.

T. Spector, P. Sambrook, A. Bansal, 2003, American journal of human genetics.

Pre-existing technological core and roots for the CRISPR breakthrough

Subarna Basnet, Ulrich Betz, Christopher L. Magee, 2018, bioRxiv.

Association testing by DNA pooling: An effective initial screen

Stefan Kammerer, Christiane Honisch, Charles R Cantor, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Limatin (LIMAB1), an actin-binding LIM protein, maps to mouse chromosome 19 and human chromosome 10q25, a region frequently deleted in human cancers.

A. Chishti, J. Knoll, C. van Huffel, 1997, Genomics.

Genetic Variation as a Guide to Drug Development

E. Vesell, P. Kleyn, 1998, Science.

Linkage and potential association of obesity-related phenotypes with two genes on chromosome 12q24 in a female dizygous twin cohort

T. Spector, P. Sambrook, F. Dudbridge, 2006, European Journal of Human Genetics.

Autosomal dominant distal spinal muscular atrophy in four generations

T. Gilliam, J. Glass, D. Cornblath, 1995, Neurology.

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

A. Monaco, J. Ott, G. Penchaszadeh, 1992, Genomics.

TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

J. Ott, S. Jacobson, T. Gilliam, 1998, Nature Genetics.

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

J. Ott, S. Jacobson, T. Gilliam, 1998, Genomics.

Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.

J. Ott, T. Gilliam, T. Lehner, 1993, Human heredity.

Spinal muscular atrophy is not the result of mutations at the beta‐hexosaminidase or GM2‐activator locus

N. Freimer, T. Gilliam, K. Wilhelmsen, 1991, Neurology.

Identification and functional analysis of novel human melanocortin-4 receptor variants.

S. Heymsfield, D. Allison, F. Pi-Sunyer, 1999, Diabetes.

Progress Toward Cloning of the Gene Responsible for Childhood Spinal Muscular Atrophy

T. Gilliam, P. Kleyn, D. Kleyn, 1993, Seminars in neurology.

Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment

B. Obermayer, A. Prentice, K. Jöckel, 2023, Science Translational Medicine.

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants

B. Shah, P. Sleiman, P. Kleyn, 2023, Expert review of endocrinology & metabolism.

A Genome‐Screen of a Large Twin Cohort Reveals Linkage for Quantitative Ultrasound of the Calcaneus to 2q33–37 and 4q12–21

T. Spector, M. Langdown, M. Chiano, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.