I. Mcintosh

T. Beaty, C. Tifft, J. Hetmanski, 1997, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Comparing whole-genome amplification methods and sources of biological samples for single-nucleotide polymorphism genotyping.

T. Beaty, A. F. Scott, Ji Wan Park, 2005, Clinical chemistry.

Nail patella syndrome: a review of the phenotype aided by developmental biology

A. Green, A. Fryer, R. Mountford, 2003, Journal of medical genetics.

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

X. Chen, J. Korenberg, M. Geraghty, 2000, American journal of medical genetics.

Association of human aging with a functional variant of klotho

I. Mian, L. Fried, D. Arking, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

I. Kaitila, T. Hefferon, G. Bellus, 1995, American journal of human genetics.

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

I. Kaitila, A. Winterpacht, Brendan H. Lee, 1998, American journal of human genetics.

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

P. Lichter, D. Vollrath, J. Richards, 1999, Journal of pediatric orthopedics.

Family‐based analysis of MSX1 haplotypes for association with oral clefts

T. Beaty, A. F. Scott, M. Fallin, 2003, Genetic epidemiology.

Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.

J. Opitz, A. Curtis, D. Brock, 1989, American journal of medical genetics.

A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families

T. Beaty, K. Doheny, E. Pugh, 2003, American journal of medical genetics. Part A.

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

T. Beaty, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation.

B. Migeon, A. Chowdhury, I McIntosh, 2001, American journal of human genetics.

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

R E Pyeritz, H. Dietz, R. Pyeritz, 1995, American journal of human genetics.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WHERE SINGLE AFFECTED CHILD HAS DIED: GUTHRIE SPOTS AND MICROVILLAR ENZYME TESTING

L. Strain, I. Mcintosh, D. Brock, 1988, The Lancet.

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

T. Beaty, N. Prescott, R. Scott, 2004, American journal of human genetics.

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

B. Olsen, M. Warman, M. Abbott, 1994, Human molecular genetics.

Detection of Pseudomonas aeruginosa in sputum from cystic fibrosis patients by the polymerase chain reaction.

J. Govan, I. Mcintosh, D. Brock, 1992, Molecular and cellular probes.

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

H. Dietz, R. Pyeritz, L. Sakai, 1993, Genomics.

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

T. Beaty, E. Jabs, A. F. Scott, 2010, European Journal of Human Genetics.

Sex- and tissue-specific expression of different members of the mouse major urinary protein multigene family

I. Mcintosh, 1988 .

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

D. Meyers, S. Blanton, J. Murray, 1994, Human molecular genetics.

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

P. Lichter, D. Vollrath, K. Scott, 1998, Human molecular genetics.

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

Jacqueline B Hetmanski, Alan F Scott, Terri H Beaty, 2007, Genetics in Medicine.

Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.

T H Beaty, N E Maestri, T. Beaty, 1997, American journal of medical genetics.

Nail Patella Syndrome Revisited: 50 Years After Linkage

J. Hoover-Fong, E. Sweeney, J. A. Dunston, 2005, Annals of human genetics.

Phenotype Severity and Genetic Variation at the Disease Locus: An Investigation of Nail Dysplasia in the Nail Patella Syndrome

J. A. Dunston, I. Mcintosh, S. Lin, 2005, Annals of human genetics.

Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis

G. Cutting, I. Mcintosh, 1992, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

H. Dietz, B. Gelb, R. Montgomery, 1998, American journal of human genetics.

Achondroplasia and nail-patella syndrome: the compound phenotype

G. Bellus, O. Hurko, M. J. Wright, 2000, Journal of medical genetics.

Testing candidate genes for non‐syndromic oral clefts using a case‐parent trio design

T. Beaty, J. Hetmanski, K. Liang, 2002, Genetic epidemiology.

A case-control study of nonsyndromic oral clefts in Maryland.

T. Beaty, J. Hetmanski, Y. Chiu, 2001, Annals of epidemiology.

QRX, a novel homeobox gene, modulates photoreceptor gene expression.

D. Zack, S. Jacobson, A. Swaroop, 2004, Human molecular genetics.

Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects.

T H Beaty, T. Beaty, Shih-Jen Hwang, 1995, American journal of epidemiology.

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

H. Dietz, R. Montgomery, P. Bray, 1996, The Journal of clinical investigation.

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

A. Shrimpton, I. Mcintosh, D. Brock, 1991, Journal of medical genetics.

Prenatal diagnosis of nail‐patella syndrome

M. Frydman, E. Gak, M. Clough, 1999, Prenatal diagnosis.

Restricted distribution of loss‐of‐function mutations within the LMX1B genes of nail‐patella syndrome patients

J. Hamlington, M. Clough, I. Mcintosh, 1999, Human mutation.

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.

R. Mountford, E. Sweeney, J. Sibbring, 2004, Genomics.

Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency.

T. Beaty, T. Hefferon, S. Hwang, 1998, American journal of medical genetics.

No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.

T. Beaty, D. Wyszynski, N. Maestri, 1997, Human heredity.

Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families

T. Beaty, D. Wyszynski, N. Maestri, 1996, Human Genetics.

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression

Yu-Qiang Ding, E. Sweeney, Zhou-Feng Chen, 2005, European Journal of Human Genetics.

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

M. Corey, L. Tsui, T. Dörk, 1992, American journal of human genetics.

Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail‐patella syndrome: Potential association with LMX1B loss‐of‐function

M. Strube, J. Hoover-Fong, E. Tierney, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Nail Patella Syndrome.

J. Hoover-Fong, E. Sweeney, I. Mcintosh, 2014 .

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.

A. Ferguson, I. Mcintosh, M. Keston, 1992, Human molecular genetics.

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

J. Hoover-Fong, D. Batista, E. Lisi, 2007, Pediatric neurology.

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

K. Blakemore, G. Bellus, C. Francomano, 1994, The Lancet.

Increased energy expenditure in cystic fibrosis is associated with specific mutations.

A. Macpherson, J. Dodge, R. Ward, 1992, Clinical science.

Twenty‐two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

J. Hamlington, I. Mcintosh, Cheron Jones, 2001, Human mutation.