Charting a course for genomic medicine from base pairs to bedsideGREEN, Eric D; GUYER, Mark S.Nature (London). 2011, Vol 470, Num 7333, pp 204-213, issn 0028-0836, 10 p.Article

Human chromosome 7 circa 2004: a model for structural and functional studies of the human genomeSCHERER, Stephen W; GREEN, Eric D.Human molecular genetics (Print). 2004, Vol 13, pp R303-R313, issn 0964-6906, NS2Article

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease riskEMISON, Elleen Sproat; MCCALLLON, Andrew S; KASHUK, Carl S et al.Nature (London). 2005, Vol 434, Num 7035, pp 857-863, issn 0028-0836, 7 p.Article

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsSIVAKUMAR, Kumaraswamy; KYRIAKIDES, Theodoros; IONASESCU, Victor et al.Brain. 2005, Vol 128, pp 2304-2314, issn 0006-8950, 11 p., 10Article

Results of a genome-wide linkage scan for stutteringSHUGART, Yin Yao; MUNDORFF, Jennifer; KILSHAW, James et al.American journal of medical genetics. 2004, Vol 124A, Num 2, pp 133-135, issn 0148-7299, 3 p.Article

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndromeROTMAN-PIKIELNY, Pnina; HIRSCHBERG, Koret; MARUVADA, Padma et al.Human molecular genetics (Print). 2002, Vol 11, Num 21, pp 2625-2633, issn 0964-6906Article

The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variantsJIONG ZHANG; KUEHL, Peter; YASUDA, Kazuto et al.Pharmacogenetics (London). 2001, Vol 11, Num 7, pp 555-572, issn 0960-314XArticle

Topographical and Temporal Diversity of the Human Skin MicrobiomeGRICE, Elizabeth A; KONG, Heidi H; TURNER, Maria L et al.Science (Washington, D.C.). 2009, Vol 324, Num 5931, pp 1190-1192, issn 0036-8075, 3 p.Article

The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumourVERNON, Ellen G; MALIK, Karim; REYNOLDS, Paul et al.Oncogene (Basingstoke). 2003, Vol 22, Num 9, pp 1371-1380, issn 0950-9232, 10 p.Article

Transcription-associated mutational asymmetry in mammalian evolutionGREEN, Phil; EWING, Brent; MILLER, Webb et al.Nature genetics. 2003, Vol 33, Num 4, pp 514-517, issn 1061-4036, 4 p.Article

Expression of PDS/Pds, the Pendred syndrome gene, in endometriumSUZUKI, Koichi; ROYAUX, Ines E; KOHN, Leonard D et al.The Journal of clinical endocrinology and metabolism. 2002, Vol 87, Num 2, pp 938-941, issn 0021-972XArticle

Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressorKRATZ, Christian P; EMERLING, Brooke M; BONIFAS, Jeannette et al.Blood. 2002, Vol 99, Num 1, pp 372-374, issn 0006-4971Article

ComboScreen facilitates the multiplex hybridization-based screening of high-density clone arraysJAMISON, D. Curtis; THOMAS, James W; GREEN, Eric D et al.Bioinformatics (Oxford. Print). 2000, Vol 16, Num 8, pp 678-684, issn 1367-4803Article

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTRSHERIDAN, Molly B; HEFIFERON, Timothy W; NULANG WANG et al.Journal of medical genetics. 2011, Vol 48, Num 4, pp 235-241, issn 0022-2593, 7 p.Article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumDAVIS, Erica E; QI ZHANG; MUZNY, Donna M et al.Nature genetics. 2011, Vol 43, Num 3, pp 189-196, issn 1061-4036, 8 p.Article

Lack of pendrin HCO₃- transport elevates vestibular endolymphatic [Ca²⁺] by inhibition of acid-sensitive TRPV5 and TRPV6 channelsNAKAYA, Kazuhiro; HARBIDGE, Donald G; WANGEMANN, Philine et al.American journal of physiology. Renal physiology. 2007, Vol 61, Num 5, issn 1931-857X, F1314-F1321Article

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndromeANTONELLIS, Anthony; BENNETT, William R; MENHENIOTT, Trevelyan R et al.Human molecular genetics (Print). 2006, Vol 15, Num 2, pp 259-271, issn 0964-6906, 13 p.Article

A vision for the future of genomics researchCOLLINS, Francis S; GREEN, Eric D; GUTTMACHER, Alan E et al.Nature (London). 2003, Vol 422, Num 6934, pp 835-847, issn 0028-0836, 13 p.Article

Deoxycorticosterone upregulates PDS (Slc26a4) in mouse kidney: Role of pendrin in mineralocorticoid-induced hypertensionVERLANDER, Jill W; HASSELL, Kathryn A; ROYAUX, Ines E et al.Hypertension (Dallas, Tex. 1979). 2003, Vol 42, Num 3, pp 356-362, issn 0194-911X, 7 p.Article

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlationETZIONI, Amos; STURLA, Laura; ANTONELLIS, Anthony et al.American journal of medical genetics. 2002, Vol 110, Num 2, pp 131-135, issn 0148-7299Article

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) geneSAHOO, Trilochan; GOENAGA-DIAZ, Eduardo; JOHNSON, Eric W et al.Genomics (San Diego, Calif.). 2001, Vol 71, Num 1, pp 123-126, issn 0888-7543Article

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpointTENTLER, Dmitry; BRANDBERG, Göran; BETANCUR, Catalina et al.American journal of medical genetics. 2001, Vol 105, Num 8, pp 729-736, issn 0148-7299Article

Differences between pair-wise and multi-sequence alignment methods affect vertebrate genome comparisonsMARGULIES, Elliott H; CHEN, Christina W; GREEN, Eric D et al.Trends in genetics (Regular ed.). 2006, Vol 22, Num 4, pp 187-193, issn 0168-9525, 7 p.Article

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computerTEER, Jamie K; GREEN, Eric D; MULLIKIN, James C et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 4, pp 599-600, issn 1367-4803, 2 p.Article

A high-resolution map of human evolutionary constraint using 29 mammalsKERSTIN, Lindblad- Toh; GARBER, Manuel; WARD, Lucas D et al.Nature (London). 2011, Vol 478, Num 7370, pp 476-482, issn 0028-0836, 7 p.Article