Publications
2014
Saitta B, Passarini J, Sareen D, Ornelas L, Sahabian A, Argade S, Krakow D, Cohn DH, Svendsen CN, Rimoin DL. Patient-Derived Skeletal Dysplasia iPSCs Display Abnormal Chondrogenic Marker Expression and Regulation by BMP2 and TGFβ1. Stem Cells Dev. 2014 Apr 1. [Epub ahead of print]
Leddy HA, McNulty AL, Lee SH, Rothfusz NE, Gloss B, Kirby ML, Hutson MR, Cohn DH, Guilak F, Liedtke W. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations. FASEB J. 2014 Feb 27. [Epub ahead of print]
Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders. J Bone Miner Res. 2014 Mar 18. doi: 10.1002/jbmr.2220. [Epub ahead of print]
Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Connective tissue alterations in Fkbp10-/- mice. Hum Mol Genet. 2014 Apr 28. pii: ddu197. [Epub ahead of print]
2013
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ. Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia. Am J Hum Genet 92:137-143, 2013.
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. Epub ahead of print, 2013.
Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Feb 27. [Epub ahead of print].
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kroger H, Cole WG, Lehesjoki A-E, Nevarez, L, Krakow D, Curry CJR, Cohn DH, Gibbs RA, Lee BH, Makitie O. Mutations in WNT1 cause early-onset osteoporosis and osteogenesis imperfecta. New Engl J Med 368:1809-1816, 2013.
Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93:926-931, 2013.
2012
Hudson DM, Kim LS, Weis M, Cohn DH, Eyre DR. Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly. Biochemistry 51:2417-2424, 2012.
Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. PubMed PMID: 22464252; PubMed Central PMCID: PMC3322224.
Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012 Jan;42(1):15-23. Epub 2011 Aug 24.
Nemec SF, Horcher E, Kasprian G, Brugger PC, Bettelheim D, Amann G, Nemec U, Rotmensch S, Rimoin DL, Graham JM Jr, Prayer D. Tumor disease and associated congenital abnormalities on prenatal MRI. Eur J Radiol. 2012 Feb;81(2):e115-22. Epub 2011 Feb 12.
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012 Jan 13. doi: 10.1002/ajmg.a.34406.
2011
Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2011 Dec 20. doi: 10.1002/humu.22012.
Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, Beitner-Johnson D, Cizmarik M, Cole JA, Kingma W, Warnock DG. Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry. Mol Genet Metab. 2011 Dec 14.
Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity. Am J Hum Genet. 2011 Dec 9;89(6):767-72.
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487.
Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011 Dec;3(4):163-78. doi: 10.4274/jcrpe.463.
Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1. No abstract available.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. Epub 2011 Jun 16.
Gay O, Gilquin B, Nakamura F, Jenkins ZA, McCartney R, Krakow D, Deshiere A, Assard N, Hartwig JH, Robertson SP, Baudier J. RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11464-9. Epub 2011 Jun 27.
Nemec SF, Rimoin DL, Lachman RS. Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. Eur J Radiol. 2011 Jul 2.
Nemec SF, Kasprian G, Brugger PC, Bettelheim D, Nemec U, Krestan CR, Rotmensch S, Rimoin DL, Graham JM Jr, Prayer D. Abnormalities of the penis in utero–hypospadias on fetal MRI. J Perinat Med. 2011 Jul;39(4):451-6. Epub 2011 Jun 2.
Nemec SF, Brugger PC, Nemec U, Bettelheim D, Kasprian G, Amann G, Rimoin DL, Graham JM Jr, Prayer D. Situs anomalies on prenatal MRI. Eur J Radiol. 2011 Jun 27.
Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A. 2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet. 2011 Jun;48(6):417-21. Epub 2011 Mar 17.
Nemec U, Nemec SF, Bettelheim D, Brugger PC, Horcher E, Schöpf V, Graham JM Jr, Rimoin DL, Weber M, Prayer D. Ovarian cysts on prenatal MRI. Eur J Radiol. 2011 May 17.
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Review.
Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84.
Nemec SF, Höftberger R, Nemec U, Bettelheim D, Brugger PC, Kasprian G, Amann G, Rotmensch S, Graham JM Jr, Rimoin DL, Prayer D. Fetal akinesia and associated abnormalities on prenatal MRI. Prenat Diagn. 2011 May;31(5):484-90. doi: 10.1002/pd.2724. Epub 2011 Mar 4.
Nemec SF, Nemec U, Weber M, Brugger PC, Bettelheim D, Rotmensch S, Krestan CR, Rimoin DL, Graham Jr JM, Prayer D. Penile biometry on prenatal MR imaging. Ultrasound Obstet Gynecol. 2011 Apr 12. doi: 10.1002/uog.9022.
Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR. Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. Am J Med Genet A. 2011 Apr;155A(4):742-7. doi: 10.1002/ajmg.a.33914. Epub 2011 Mar 15.
Rimoin DL. The American College of Medical Genetics, the first 20 years. Genet Med. 2011 Mar;13(3):179-87.
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.
Nemec SF, Nemec U, Weber M, Rotmensch S, Brugger PC, Kasprian G, Krestan CR, Rimoin DL, Graham JM Jr, Prayer D. Female External Genitalia on Fetal MRI. Ultrasound Obstet Gynecol. 2011 Feb 28. doi: 10.1002/uog.8973.
Nemec SF, Nemec U, Weber M, Kasprian G, Brugger PC, Krestan CR, Rotmensch S, Rimoin DL, Graham JM Jr, Prayer D. Male sexual development in utero: testicular descent on prenatal MRI. Ultrasound Obstet Gynecol. 2011 Feb 17. doi: 10.1002/uog.8964.
Mark PR, Torres-Martinez W, Lachman RS, Weaver DD. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. Am J Med Genet A. 2011 Jan;155A(1):174-9. doi: 10.1002/ajmg.a.33762.
Cervenka I, Wolf J, Mašek J, Krejci P, Wilcox WR, Kozubík A, Schulte G, Gutkind JS, Bryja V. Mitogen-activated protein kinases promote WNT/beta-catenin signaling via phosphorylation of LRP6. Mol Cell Biol. 2011 Jan;31(1):179-89. Epub 2010 Oct 25.
2010
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. Epub 2010 Oct 28.
Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet. 2010 Oct 8;87(4):532-7.
Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF. Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? Clin Dysmorphol. 2010 Oct;19(4):175-80.
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL. Genetic screening in the Persian Jewish community: A pilot study. Genet Med. 2010 Oct;12(10):628-33.
Stevens CA, Lachman RS. New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies. Am J Med Genet A. 2010 Aug;152A(8):1915-8.
Krejci P, Murakami S, Prochazkova J, Trantirek L, Chlebova K, Ouyang Z, Aklian A, Smutny J, Bryja V, Kozubik A, Wilcox WR. NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells. J Biol Chem. 2010 Jul 2;285(27):20644-53. Epub 2010 May 3.
Krejci P, Prochazkova J, Smutny J, Chlebova K, Lin P, Aklian A, Bryja V, Kozubik A, Wilcox WR. FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence. Bone. 2010 Jul;47(1):102-10. Epub 2010 Mar 31.
Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med. 2010 Jun;12(6):327-41. Review.
Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet Med. 2010 Jun;12(6):364-9.
Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11;5(5):e10560.
Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A(5):1169-77.
Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010 May;31(9):1088-97. Epub 2010 Jan 7.
Rock MJ, Holden P, Horton WA, Cohn DH. Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. Mol Cell Biochem. 2010 May;338(1-2):215-24. Epub 2009 Dec 24.
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 9;86(4):551-9. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3.
Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V. Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)–a distinct syndrome? Am J Med Genet A. 2010 Mar;152A(3):539-46.
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16.
El-Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A. 2010 Jan;152A(1):169-74.
2009
Lee H, O’Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics. 2009 Dec 31;10:646.
Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR. Molecular pathology of the fibroblast growth factor family. Hum Mutat. 2009 Sep;30(9):1245-55. Review.
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. Epub 2009 Feb 13.
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet A. 2009 Jun;149A(6):1334-45. Review.
Salazar L, Kashiwada T, Krejci P, Muchowski P, Donoghue D, Wilcox WR, Thompson LM. A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells. Hum Mol Genet. 2009 Jun 1;18(11):1951-61. Epub 2009 Mar 13.
Yandow SM, Rimoin DL, Grace AM, Fillman RR, Raney EM. Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report. J Pediatr Orthop B. 2009 May;18(3):151-6.
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr;84(4):542-9.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. Epub 2009 Feb 19.
Pariani MJ, Spencer A, Graham JM Jr, Rimoin DL. A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur J Med Genet. 2009 Mar-Jun;52(2-3):123-7. Epub 2009 Mar 28.
Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 Feb;11(2):127-33.
Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR. Lysosomal Disease Network’s “WORLD Symposium 2009″. Introduction. Mol Genet Metab. 2009 Feb;96(2):S3-5. Epub 2008 Dec 10.
Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S. FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Hum Mol Genet. 2009 Jan 15;18(2):227-40. Epub 2008 Oct 15.
Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet. 2009 Jan;84(1):72-9. Epub 2008 Dec 24.
2008
Krejci P, Prochazkova J, Bryja V, Jelinkova P, Pejchalova K, Kozubik A, Thompson LM, Wilcox WR. Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes. Cell Signal. 2009 Jan;21(1):151-60. Epub 2008 Oct 12.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008 Dec;29(12):1435-42.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 2008 Dec;40(12):1410-2. Epub 2008 Nov 9.
Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Am J Med Genet A. 2008 Nov 15;146A(22):2937-43.
Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008 Nov;64(5):550-5.
Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23.
Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24.
Guo C, Degnin CR, Laederich MB, Lunstrum GP, Holden P, Bihlmaier J, Krakow D, Cho YJ, Horton WA. Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. Cell Signal. 2008 Aug;20(8):1471-7. Epub 2008 Apr 10.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003. Epub 2008 Jun 29.
Vatanavicharn N, Lachman RS, Rimoin DL. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. Am J Med Genet A. 2008 Jul 1;146A(13):1682-6.
Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 1;146A(9):1230-3.
Mitter D, Krakow D, Farrington-Rock C, Meinecke P. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. Am J Med Genet A. 2008 Mar 15;146A(6):779-83.
Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008 Mar 1;17(5):631-41. Epub 2007 Jul 17.
Krejci P, Salazar L, Kashiwada TA, Chlebova K, Salasova A, Thompson LM, Bryja V, Kozubik A, Wilcox WR. Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. PLoS One. 2008;3(12):e3961. Epub 2008 Dec 17.
Krejci P, Salazar L, Goodridge HS, Kashiwada TA, Schibler MJ, Jelinkova P, Thompson LM, Wilcox WR. STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes. J Cell Sci. 2008 Feb 1;121(Pt 3):272-81. Epub 2008 Jan 15.
2007
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. Epub 2007 Nov 26.
Krejci P, Pejchalova K, Rosenbloom BE, Rosenfelt FP, Tran EL, Laurell H, Wilcox WR. The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia. J Leukoc Biol. 2007 Dec;82(6):1363-4. Epub 2007 Sep 7.
Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg. 2007 Dec;107(6 Suppl):504-7.
Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA. Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. Am J Med Genet A. 2007 Nov 15;143A(22):2706-11.
Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci. 2007 Nov;1117:302-9. Review.
Pejchalova K, Krejci P, Wilcox WR. C-natriuretic peptide: an important regulator of cartilage. Mol Genet Metab. 2007 Nov;92(3):210-5. Epub 2007 Aug 6.
Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007 Nov;13(11):1363-7. Epub 2007 Oct 21.
Rimoin DL. 2006 ASHG Leadership Award. A half century of medical genetics–where do we go from here? Am J Hum Genet. 2007 Oct;81(4):670-2.
Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.
Hjorten R, Hansen U, Underwood RA, Telfer HE, Fernandes RJ, Krakow D, Sebald E, Wachsmann-Hogiu S, Bruckner P, Jacquet R, Landis WJ, Byers PH, Pace JM. Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone. 2007 Oct;41(4):535-42. Epub 2007 Jul 13.
Krejci P, Pejchalova K, Wilcox WR. Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathway. Invest New Drugs. 2007 Aug;25(4):391-5. Epub 2007 Apr 26.
Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. 2007 Jun 12;8:165.
Alanay Y, Krakow D, Rimoin DL, Lachman RS. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A. 2007 Jun 1;143A(11):1159-68.
Miller M, Krakow D, Pepkowitz S. Polyvalvular disease in a fetus with normal chromosomes. Congenit Heart Dis. 2007 May-Jun;2(3):214-7. Erratum in: Congenit Heart Dis. 2007 Jul;2(4):285.
Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007 May;18(5):1547-57. Epub 2007 Apr 4.
Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet. 2007 Apr;44(4):e73.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007 Mar;28(3):209-21.
Krejci P, Krakow D, Mekikian PB, Wilcox WR. Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage. Pediatr Res. 2007 Mar;61(3):267-72.
Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E. [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]. Med Clin (Barc). 2007 Feb 3;128(4):137-40.
Krejci P, Masri B, Salazar L, Farrington-Rock C, Prats H, Thompson LM, Wilcox WR. Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins. J Biol Chem. 2007 Feb 2;282(5):2929-36. Epub 2006 Dec 4.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77-86. Epub 2006 Dec 18.
Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007 Jan;9(1):34-45.
2006
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19004-9. Epub 2006 Dec 1.
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006 Sep;8(9):539-48.
Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. Pediatr Radiol. 2006 Sep;36(9):970-3. Epub 2006 May 20.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. Erratum in: Am J Med Genet A. 2006 Dec 15;140(24):2840. Macini, Grazia [corrected to Mancini, Grazia].
Bierer G, Balfe D, Wilcox WR, Mosenifar Z. Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis. 2006 Aug;29(4):572-9.
Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS. Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. Am J Med Genet A. 2006 Jul 15;140(14):1553-63.
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10.
Byers PH, Krakow D, Nunes ME, Pepin M; American college of medical genetics. Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med. 2006 Jun;8(6):383-8.
Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.
2005
Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR. Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J Cell Sci. 2005 Nov 1;118(Pt 21):5089-100. Epub 2005 Oct 18.
Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH. Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. Am J Med Genet A. 2005 Sep 15;138(1):75-8.
Ahn CP, Lachman RS, Cox VA, Blumberg B, Klein OD. Brachydactylic multiple delta phalanges plus syndrome. Am J Med Genet A. 2005 Sep 15;138(1):41-4.
Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005 Sep;115(9):2373-81. Epub 2005 Aug 25.
Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary exercise testing in Fabry disease. Respiration. 2005 Sep-Oct;72(5):504-11.
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug;77(2):305-12. Epub 2005 Jun 10.
Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR. Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness. Am J Med Genet A. 2005 Jul 30;136(3):233-41.
Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15;135(3):333.
Watiker V, Lachman RS, Wilcox WR, Barroso I, Schafer AJ, Scherer G. Differentiating campomelic dysplasia from Cumming syndrome. Am J Med Genet A. 2005 May 15;135(1):110-2.
2004
Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005 Feb;35(2):116-23. Epub 2004 Oct 21.
Elliott AM, Field FM, Rimoin DL, Lachman RS. Hand involvement in Schmid metaphyseal chondrodysplasia. Am J Med Genet A. 2005 Jan 15;132A(2):191-3.
Takamine Y, Krejci P, Mekikian PB, Wilcox WR. Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. Am J Med Genet A. 2004 Sep 15;130A(1):96-7.
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47.
Pogue R, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. A transcriptional profile of human fetal cartilage. Matrix Biol. 2004 Aug;23(5):299-307.
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004 Jul;75(1):65-74. Epub 2004 May 20.
Krejci P, Bryja V, Pachernik J, Hampl A, Pogue R, Mekikian P, Wilcox WR. FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells. Exp Cell Res. 2004 Jul 1;297(1):152-64.
Takamine Y, Lachman RS, Field FM, Rimoin DL. Occipital projections in the skeletal dysplasias. Pediatr Radiol. 2004 Jul;34(7):530-4. Epub 2004 Apr 24.
Rimoin DL, Hirschhorn K. A history of medical genetics in pediatrics. Pediatr Res. 2004 Jul;56(1):150-9. Epub 2004 May 5.
Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004 May;144(5 Suppl):S3-14. Review.
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.
Savarirayan R, Rimoin DL. Skeletal dysplasias. Adv Pediatr. 2004;51:209-29.
2003
Puliyanda DP, Wilcox WR, Bunnapradist S, Nast CC, Jordan SC. Fabry disease in a renal allograft. Am J Transplant. 2003 Aug;3(8):1030-2.
Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet. 2003 Jul;113(1):1-9. Epub 2003 Apr 3.
Sebald E, Krueger R, King LM, Cohn DH, Krakow D. Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library. Gene. 2003 Jun 5;311:147-51.
Lee YS, Elliott AM, Loke KY, Lachman RS. A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg. Am J Med Genet A. 2003 May 15;119A(1):50-6.
Krakow D, Sebald ET, Pogue R, Rimoin LP, King L, Cohn DH. Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias. Mol Genet Metab. 2003 May;79(1):34-42.
Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. Am J Med Genet A. 2003 Apr 30;118A(3):267-73.
Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet. 2003 Apr;72(4):1013-7. Epub 2003 Feb 28.
Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features. Pediatr Radiol. 2003 Apr;33(4):256-60. Epub 2003 Feb 5.
Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003 Mar 1;117A(2):136-42.
Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. 2003 Mar;11(3):265-70.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18;138(4):338-46.
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.
2002
Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Genet. 2002 Dec 15;113(4):351-61.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet. 2002 Oct;71(4):947-51. Epub 2002 Aug 2.
Olsen E, Lie RT, Lachman RS, Maartmann-Moe H, Rosendahl K. Ossification sequence in infants who die during the perinatal period: population-based references. Radiology. 2002 Oct;225(1):240-4.
Savarirayan R, Rimoin DL. The skeletal dysplasias. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60.
Savarirayan R, Cormier-Daire V, Amor DJ, Wilcox WR, Lachman RS, Rimoin DL. Prenatal cortical hyperostosis (Caffey disease). Pediatr Radiol. 2002 Sep;32(9):694.
Olsen E, Lie RT, Maartmann-Moe H, Pirhonen J, Lachman RS, Rosendahl K. Skeletal measurements among infants who die during the perinatal period: new population-based reference. Pediatr Radiol. 2002 Sep;32(9):667-73. Epub 2002 Jul 26.
Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002 Jul 22;111(1):31-7.
Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A–>G mutation of the untranslated RMRP. Eur J Hum Genet. 2002 Jul;10(7):439-47.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia–distinct from Neu-Laxova Syndrome. Am J Med Genet. 2002 Apr 22;109(2):139-48.
Kantorovich V, Adams JS, Gaines JE, Guo X, Pandian MR, Cohn DH, Rude RK. Genetic heterogeneity in familial renal magnesium wasting. J Clin Endocrinol Metab. 2002 Feb;87(2):612-7.
Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR. Orthopaedic manifestations of Marinesco-Sjögren syndrome. J Pediatr Orthop. 2002 May-Jun;22(3):399-403.