| Year |
Citation |
Score |
| 2020 |
Chen D, Liu Y, Shu G, Chen C, Sullivan DA, Kam WR, Hann S, Fowler M, Warman ML. Ocular Manifestations of Chordin-like 1 Knockout Mice. Cornea. PMID 32452990 DOI: 10.1097/Ico.0000000000002371 |
0.417 |
|
| 2020 |
Ayturk UM, Scollan JP, Ayturk DG, Suh ES, Vesprey A, Jacobsen CM, Pajevic PD, Warman ML. SINGLE CELL RNA SEQUENCING OF CALVARIAL AND LONG BONE ENDOCORTICAL CELLS. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 32427356 DOI: 10.1002/Jbmr.4052 |
0.32 |
|
| 2020 |
Caetano-Lopes J, Henke K, Urso K, Duryea J, Charles JF, Warman ML, Harris MP. Unique and non-redundant function of paralogues in regulation and evolution of post-embryonic development of the zebrafish. Development (Cambridge, England). PMID 31932352 DOI: 10.1242/Dev.181834 |
0.307 |
|
| 2019 |
Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK. Somatic mutations in intracranial arteriovenous malformations. Plos One. 14: e0226852. PMID 31891627 DOI: 10.1371/Journal.Pone.0226852 |
0.661 |
|
| 2019 |
Kaupp S, Horan DJ, Lim KE, Feldman HA, Robling AG, Warman ML, Jacobsen CM. Combination therapy in the Col2a1 mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFβ signaling on trabecular bone but not on cortical bone. Bone. 115084. PMID 31648079 DOI: 10.1016/J.Bone.2019.115084 |
0.333 |
|
| 2019 |
Konczyk DJ, Goss JA, Smits PJ, Huang AY, Al-Ibraheemi A, Sudduth CL, Warman ML, Greene AK. Arteriovenous malformation associated with a HRAS mutation. Human Genetics. PMID 31637524 DOI: 10.1007/S00439-019-02072-Y |
0.672 |
|
| 2019 |
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics. Part A. PMID 31633310 DOI: 10.1002/Ajmg.A.61366 |
0.301 |
|
| 2019 |
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, ... ... Warman ML, et al. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American Journal of Human Genetics. 105: 836-843. PMID 31564437 DOI: 10.1016/J.Ajhg.2019.08.008 |
0.485 |
|
| 2019 |
Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, Taghinia AH, Dickie BH, Adams DM, Fishman SJ, Mulliken JB, Warman ML, Greene AK. Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations. Angiogenesis. PMID 31486960 DOI: 10.1007/S10456-019-09678-W |
0.385 |
|
| 2019 |
Bullock WA, Hoggatt A, Horan DJ, Lewis K, Yokota H, Hann S, Warman ML, Sebastian A, Loots GG, Pavalko FM, Robling AG. Expression of a degradation-resistant β-catenin mutant in osteocytes protects the skeleton from mechanodeprivation-induced bone wasting. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 31173667 DOI: 10.1002/Jbmr.3812 |
0.343 |
|
| 2019 |
Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, ... ... Warman ML, et al. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nature Medicine. PMID 30804514 DOI: 10.1038/S41591-019-0353-2 |
0.316 |
|
| 2018 |
Kang KS, Hong JM, Horan DJ, Lim KE, Bullock WA, Bruzzaniti A, Hann S, Warman ML, Robling AG. Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism. Bone. 120: 166-175. PMID 30409757 DOI: 10.1016/J.Bone.2018.10.007 |
0.423 |
|
| 2018 |
Zuo C, Wang L, Kamalesh RM, Bowen ME, Moore DC, Dooner MS, Reginato AM, Wu Q, Schorl C, Song Y, Warman ML, Neel BG, Ehrlich MG, Yang W. SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity. Bone Research. 6: 12. PMID 29644115 DOI: 10.1038/S41413-018-0013-Z |
0.744 |
|
| 2017 |
Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS). Clinical Genetics. PMID 29231959 DOI: 10.1111/Cge.13195 |
0.669 |
|
| 2017 |
Bird IM, Kim SH, Schweppe DK, Caetano-Lopes J, Robling AG, Charles JF, Gygi SP, Warman ML, Smits PJ. The skeletal phenotype of Achondrogenesis type 1A is caused exclusively by cartilage defects. Development (Cambridge, England). PMID 29180569 DOI: 10.1242/Dev.156588 |
0.407 |
|
| 2017 |
Wang L, Huang J, Moore DC, Zuo C, Wu Q, Xie L, von der Mark K, Yuan X, Chen D, Warman ML, Ehrlich MG, Yang W. SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. Scientific Reports. 7: 12699. PMID 28983104 DOI: 10.1038/S41598-017-12767-9 |
0.407 |
|
| 2017 |
Caetano-Lopes J, Lessard SG, Hann S, Espinoza K, Kang KS, Lim KE, Horan DJ, Noonan HR, Hu D, Baron R, Robling AG, Warman ML. Clcn7(F318L/+) as a new mouse model of Albers-Schönberg disease. Bone. PMID 28942122 DOI: 10.1016/J.Bone.2017.09.007 |
0.46 |
|
| 2017 |
Tafaj O, Hann S, Ayturk U, Warman ML, Jüppner H. Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues. Bone. PMID 28694163 DOI: 10.1016/J.Bone.2017.07.001 |
0.364 |
|
| 2017 |
Couto JA, Konczyk DJ, Vivero MP, Kozakewich HPW, Upton J, Fu X, Padwa BL, Mulliken JB, Warman ML, Greene AK. Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. Pediatric Research. PMID 28665924 DOI: 10.1016/J.Jamcollsurg.2017.07.925 |
0.401 |
|
| 2017 |
He Y, Zhang M, Huang AY, Cui Y, Bai D, Warman ML. Confocal imaging of mouse mandibular condyle cartilage. Scientific Reports. 7: 43848. PMID 28266618 DOI: 10.1038/Srep43848 |
0.593 |
|
| 2017 |
Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. American Journal of Human Genetics. PMID 28190454 DOI: 10.1016/J.Ajhg.2017.01.018 |
0.67 |
|
| 2017 |
Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. PMID 28120216 DOI: 10.1007/S10456-016-9538-1 |
0.675 |
|
| 2017 |
Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK. Abstract 135 Plastic and Reconstructive Surgery - Global Open. 5: 99-100. DOI: 10.1097/01.Gox.0000516654.69082.Be |
0.527 |
|
| 2016 |
Jacobsen CM, Schwartz MA, Roberts HJ, Lim KE, Spevak L, Boskey AL, Zurakowski D, Robling AG, Warman ML. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Bone. PMID 27297606 DOI: 10.1016/J.Bone.2016.06.005 |
0.363 |
|
| 2016 |
Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American Journal of Human Genetics. 98: 1271. PMID 27259057 DOI: 10.1016/J.Ajhg.2016.05.010 |
0.668 |
|
| 2016 |
Masci M, Wang M, Imbert L, Barnes AM, Spevak L, Lukashova L, Huang Y, Ma Y, Marini JC, Jacobsen CM, Warman ML, Boskey AL. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. PMID 27083399 DOI: 10.1016/J.Bone.2016.04.011 |
0.348 |
|
| 2016 |
Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. American Journal of Human Genetics. 98: 789-95. PMID 27058448 DOI: 10.1016/j.ajhg.2016.03.009 |
0.638 |
|
| 2016 |
Huang W, Li Q, Amiry-Moghaddam M, Hokama M, Sardi SH, Nagao M, Warman ML, Olsen BR. Critical Endothelial Regulation by LRP5 during Retinal Vascular Development. Plos One. 11: e0152833. PMID 27031698 DOI: 10.1371/Journal.Pone.0152833 |
0.306 |
|
| 2015 |
Niziolek PJ, Bullock W, Warman ML, Robling AG. Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia. Plos One. 10: e0140775. PMID 26554834 DOI: 10.1371/Journal.Pone.0140775 |
0.388 |
|
| 2015 |
Couto JA, Vivero MP, Upton J, Padwa BL, Warman ML, Mulliken JB, Greene AK. Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues. Plastic and Reconstructive Surgery. 136: 72-73. PMID 26397580 DOI: 10.1097/01.Prs.0000472371.96995.E5 |
0.413 |
|
| 2015 |
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics. Part A. PMID 26394607 DOI: 10.1002/Ajmg.A.37365 |
0.349 |
|
| 2015 |
Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK. Endothelial Cells from Capillary Malformations are Enriched for Somatic GNAQ Mutations. Plastic and Reconstructive Surgery. PMID 26368330 DOI: 10.1097/Prs.0000000000001868 |
0.443 |
|
| 2015 |
Hill A, Waller KA, Cui Y, Allen JM, Smits P, Zhang LX, Ayturk UM, Hann S, Lessard SG, Zurakowski D, Warman ML, Jay GD. Lubricin restoration in a mouse model of congenital deficiency. Arthritis & Rheumatology (Hoboken, N.J.). PMID 26216721 DOI: 10.1002/Art.39276 |
0.332 |
|
| 2015 |
Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK. Abstract 72: Endothelial Cells from Capillary Malformations are Enriched for Somatic GNAQ Mutations and Aberrantly Express PDGFRβ. Plastic and Reconstructive Surgery. 135: 56. PMID 25915286 DOI: 10.1097/01.Prs.0000465520.85176.40 |
0.398 |
|
| 2015 |
Tosi LL, Warman ML. Mechanistic and therapeutic insights gained from studying rare skeletal diseases. Bone. 76: 67-75. PMID 25819040 DOI: 10.1016/J.Bone.2015.03.016 |
0.302 |
|
| 2015 |
Niziolek PJ, MacDonald BT, Kedlaya R, Zhang M, Bellido T, He X, Warman ML, Robling AG. High-bone-mass causing mutant LRP5 receptors are resistant to endogenous inhibitors in vivo. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 25808845 DOI: 10.1002/Jbmr.2514 |
0.417 |
|
| 2015 |
Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, Mulliken JB, Warman ML, Greene AK. A somatic MAP3K3 mutation is associated with verrucous venous malformation. American Journal of Human Genetics. 96: 480-6. PMID 25728774 DOI: 10.1016/J.Ajhg.2015.01.007 |
0.456 |
|
| 2015 |
Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human Mutation. 36: 474-81. PMID 25703509 DOI: 10.1002/Humu.22773 |
0.448 |
|
| 2015 |
Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, ... ... Warman ML, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. The Journal of Pediatrics. 166: 1048-54.e1-5. PMID 25681199 DOI: 10.1016/J.Jpeds.2014.12.069 |
0.395 |
|
| 2015 |
Kozhemyakina E, Zhang M, Ionescu A, Ayturk UM, Ono N, Kobayashi A, Kronenberg H, Warman ML, Lassar AB. Identification of a Prg4-expressing articular cartilage progenitor cell population in mice. Arthritis & Rheumatology (Hoboken, N.J.). 67: 1261-73. PMID 25603997 DOI: 10.1002/Art.39030 |
0.317 |
|
| 2015 |
Boscolo E, Coma S, Luks VL, Greene AK, Klagsbrun M, Warman ML, Bischoff J. AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis. 18: 151-62. PMID 25424831 DOI: 10.1007/S10456-014-9453-2 |
0.384 |
|
| 2015 |
Tosi LL, Fonseca P, Warman M. Mechanistic and therapeutic insights into skeletal biology learned from the study of rare bone diseases Ibms Bonekey. 12: 646. DOI: 10.1038/Bonekey.2015.13 |
0.308 |
|
| 2014 |
Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML. SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. Plos Genetics. 10: e1004364. PMID 24875294 DOI: 10.1371/Journal.Pgen.1004364 |
0.766 |
|
| 2014 |
Jacobsen CM, Barber LA, Ayturk UM, Roberts HJ, Deal LE, Schwartz MA, Weis M, Eyre D, Zurakowski D, Robling AG, Warman ML. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 29: 2297-306. PMID 24677211 DOI: 10.1002/Jbmr.2198 |
0.402 |
|
| 2014 |
Bükülmez H, Khan F, Bartels CF, Murakami S, Ortiz-Lopez A, Sattar A, Haqqi TM, Warman ML. Protective effects of C-type natriuretic peptide on linear growth and articular cartilage integrity in a mouse model of inflammatory arthritis. Arthritis & Rheumatology (Hoboken, N.J.). 66: 78-89. PMID 24449577 DOI: 10.1002/Art.38199 |
0.314 |
|
| 2014 |
Maclellan RA, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC. PIK3CA activating mutations in facial infiltrating lipomatosis. Plastic and Reconstructive Surgery. 133: 12e-9e. PMID 24374682 DOI: 10.1097/01.Prs.0000436822.26709.7C |
0.414 |
|
| 2013 |
Kedlaya R, Veera S, Horan DJ, Moss RE, Ayturk UM, Jacobsen CM, Bowen ME, Paszty C, Warman ML, Robling AG. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Science Translational Medicine. 5: 211ra158. PMID 24225945 DOI: 10.1126/Scitranslmed.3006627 |
0.755 |
|
| 2013 |
Hann S, Kvenvold L, Newby BN, Hong M, Warman ML. A Wisp3 Cre-knockin Allele Produces Efficient Recombination in Spermatocytes during Early Prophase of Meiosis I Plos One. 8. PMID 24040393 DOI: 10.1371/Journal.Pone.0075116 |
0.367 |
|
| 2013 |
Allen JM, McGlinn E, Hill A, Warman ML. Autopodial development is selectively impaired by misexpression of chordin-like 1 in the chick limb. Developmental Biology. 381: 159-69. PMID 23764427 DOI: 10.1016/J.Ydbio.2013.06.003 |
0.32 |
|
| 2013 |
Ayturk UM, Jacobsen CM, Christodoulou DC, Gorham J, Seidman JG, Seidman CE, Robling AG, Warman ML. An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2081-93. PMID 23553928 DOI: 10.1002/Jbmr.1946 |
0.4 |
|
| 2013 |
Waller KA, Zhang LX, Elsaid KA, Fleming BC, Warman ML, Jay GD. Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis. Proceedings of the National Academy of Sciences of the United States of America. 110: 5852-7. PMID 23530215 DOI: 10.1073/Pnas.1219289110 |
0.307 |
|
| 2013 |
Adams A, McBratney-Owen B, Newby B, Bowen ME, Olsen BR, Warman ML. Presphenoidal synchondrosis fusion in DBA/2J mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 24: 54-62. PMID 23179633 DOI: 10.1007/S00335-012-9437-8 |
0.718 |
|
| 2013 |
Trenor CC, Warman ML. Gorham-Stout disease and generalized lymphatic anomalies Seminars in Arthritis and Rheumatism. 42: 547-548. DOI: 10.1016/J.Semarthrit.2012.12.014 |
0.343 |
|
| 2013 |
Maclellan RA, Kurek KC, Luks VL, Mulliken JB, Warman ML, Greene AK. Facial infiltrating lipomatosis is caused by PIK3CA activating mutations Journal of the American College of Surgeons. 217: S94-S95. DOI: 10.1016/J.Jamcollsurg.2013.07.214 |
0.422 |
|
| 2012 |
Kim S, Hill A, Warman ML, Smits P. Golgi disruption and early embryonic lethality in mice lacking USO1. Plos One. 7: e50530. PMID 23185636 DOI: 10.1371/Journal.Pone.0050530 |
0.338 |
|
| 2012 |
Yuan Q, Chiquet BT, Devault L, Warman ML, Nakamura Y, Swindell EC, Hecht JT. Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish. Genesis (New York, N.Y. : 2000). 50: 871-81. PMID 22887593 DOI: 10.1002/Dvg.22051 |
0.339 |
|
| 2012 |
Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, ... ... Warman ML, et al. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 160: 217-29. PMID 22791401 DOI: 10.1002/Ajmg.C.31333 |
0.384 |
|
| 2012 |
Niziolek PJ, Warman ML, Robling AG. Mechanotransduction in bone tissue: The A214V and G171V mutations in Lrp5 enhance load-induced osteogenesis in a surface-selective manner. Bone. 51: 459-65. PMID 22750014 DOI: 10.1016/J.Bone.2012.05.023 |
0.436 |
|
| 2012 |
Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. American Journal of Human Genetics. 90: 1108-15. PMID 22658544 DOI: 10.1016/J.Ajhg.2012.05.006 |
0.783 |
|
| 2012 |
Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. Bmc Medical Genetics. 13: 26. PMID 22487062 DOI: 10.1186/1471-2350-13-26 |
0.444 |
|
| 2012 |
Bowen ME, Henke K, Siegfried KR, Warman ML, Harris MP. Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing. Genetics. 190: 1017-24. PMID 22174069 DOI: 10.1534/Genetics.111.136069 |
0.768 |
|
| 2012 |
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics. 49: 119-25. PMID 22147889 DOI: 10.1136/Jmedgenet-2011-100409 |
0.422 |
|
| 2012 |
Drewniak EI, Jay GD, Fleming BC, Zhang L, Warman ML, Crisco JJ. Cyclic loading increases friction and changes cartilage surface integrity in lubricin-mutant mouse knees. Arthritis and Rheumatism. 64: 465-73. PMID 21905020 DOI: 10.1002/Art.33337 |
0.342 |
|
| 2012 |
Boyden E, Campos-Xavier A, Kalamajski S, Cameron T, Suarez P, Tanackovic G, Andria G, Ballhausen D, Briggs, Hartley C, Cohn D, Davidson H, Hall C, Ikegawa S, Jouk P, ... ... Warman M, et al. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011) American Journal of Human Genetics. DOI: 10.1016/J.Ajhg.2011.12.012 |
0.349 |
|
| 2011 |
Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, ... ... Warman ML, et al. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. American Journal of Human Genetics. 89: 767-72. PMID 22152678 DOI: 10.1016/J.Ajhg.2011.10.016 |
0.449 |
|
| 2011 |
Niziolek PJ, Farmer TL, Cui Y, Turner CH, Warman ML, Robling AG. High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes. Bone. 49: 1010-9. PMID 21855668 DOI: 10.1016/J.Bone.2011.07.034 |
0.429 |
|
| 2011 |
Cui Y, Niziolek PJ, MacDonald BT, Zylstra CR, Alenina N, Robinson DR, Zhong Z, Matthes S, Jacobsen CM, Conlon RA, Brommage R, Liu Q, Mseeh F, Powell DR, Yang QM, ... ... Warman ML, et al. Lrp5 functions in bone to regulate bone mass. Nature Medicine. 17: 684-91. PMID 21602802 DOI: 10.1038/Nm.2388 |
0.42 |
|
| 2011 |
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, ... ... Warman ML, et al. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. Plos Genetics. 7: e1002050. PMID 21533187 DOI: 10.1371/Journal.Pgen.1002050 |
0.778 |
|
| 2011 |
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, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics. Part A. 155: 943-68. PMID 21438135 DOI: 10.1002/Ajmg.A.33909 |
0.358 |
|
| 2011 |
Nakamura Y, Yamamoto K, He X, Otsuki B, Kim Y, Murao H, Soeda T, Tsumaki N, Deng JM, Zhang Z, Behringer RR, Crombrugghe Bd, Postlethwait JH, Warman ML, Nakamura T, et al. Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25. Nature Communications. 2: 251. PMID 21427722 DOI: 10.1038/Ncomms1242 |
0.32 |
|
| 2011 |
Kohrs RT, Zhao C, Sun YL, Jay GD, Zhang L, Warman ML, An KN, Amadio PC. Tendon fascicle gliding in wild type, heterozygous, and lubricin knockout mice. Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 29: 384-9. PMID 20886657 DOI: 10.1002/Jor.21247 |
0.313 |
|
| 2011 |
Warman ML. LRP5 functions in bone to produce high bone mass phenotypes Bone. 48. DOI: 10.1016/J.Bone.2011.03.042 |
0.307 |
|
| 2010 |
Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis VE. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. Plos One. 5. PMID 20957154 DOI: 10.1371/Journal.Pone.0013183 |
0.397 |
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| 2010 |
Fernando CA, Conrad PA, Bartels CF, Marques T, To M, Balow SA, Nakamura Y, Warman ML. Temporal and spatial expression of CCN genes in zebrafish. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 1755-67. PMID 20503371 DOI: 10.1002/Dvdy.22279 |
0.309 |
|
| 2010 |
Coles JM, Zhang L, Blum JJ, Warman ML, Jay GD, Guilak F, Zauscher S. Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4. Arthritis and Rheumatism. 62: 1666-74. PMID 20191580 DOI: 10.1002/Art.27436 |
0.307 |
|
| 2010 |
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, ... ... Warman ML, et al. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. The New England Journal of Medicine. 362: 206-16. PMID 20089971 DOI: 10.1056/Nejmoa0900158 |
0.474 |
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| 2009 |
Nakamura Y, Cui Y, Fernando C, Kutz WE, Warman ML. Normal growth and development in mice over-expressing the CCN family member WISP3. Journal of Cell Communication and Signaling. 3: 105-13. PMID 19401829 DOI: 10.1007/S12079-009-0040-Z |
0.4 |
|
| 2009 |
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, et al. A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Human Mutation. 30: 641-8. PMID 19177549 DOI: 10.1002/Humu.20916 |
0.425 |
|
| 2009 |
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, ... ... Warman ML, et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. American Journal of Human Genetics. 84: 44-51. PMID 19118815 DOI: 10.1016/J.Ajhg.2008.12.009 |
0.408 |
|
| 2009 |
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. Human Molecular Genetics. 18: 227-40. PMID 18923003 DOI: 10.1093/Hmg/Ddn339 |
0.377 |
|
| 2008 |
Balemans W, Piters E, Cleiren E, Ai M, Van Wesenbeeck L, Warman ML, Van Hul W. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. Calcified Tissue International. 82: 445-53. PMID 18521528 DOI: 10.1007/S00223-008-9130-9 |
0.462 |
|
| 2007 |
Nakamura Y, Weidinger G, Liang JO, Aquilina-Beck A, Tamai K, Moon RT, Warman ML. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. The Journal of Clinical Investigation. 117: 3075-86. PMID 17823661 DOI: 10.1172/Jci32001 |
0.396 |
|
| 2006 |
Sawakami K, Robling AG, Ai M, Pitner ND, Liu D, Warden SJ, Li J, Maye P, Rowe DW, Duncan RL, Warman ML, Turner CH. The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. The Journal of Biological Chemistry. 281: 23698-711. PMID 16790443 DOI: 10.1074/Jbc.M601000200 |
0.399 |
|
| 2006 |
Okajima K, Warman ML, Byrne LC, Kerr DS. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype. Molecular Genetics and Metabolism. 87: 162-8. PMID 16412675 DOI: 10.1016/J.Ymgme.2005.09.023 |
0.456 |
|
| 2006 |
Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. The Journal of Clinical Endocrinology and Metabolism. 91: 1229-32. PMID 16384845 DOI: 10.1210/Jc.2005-1949 |
0.439 |
|
| 2005 |
Clément-Lacroix P, Ai M, Morvan F, Roman-Roman S, Vayssière B, Belleville C, Estrera K, Warman ML, Baron R, Rawadi G. Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. Proceedings of the National Academy of Sciences of the United States of America. 102: 17406-11. PMID 16293698 DOI: 10.1073/Pnas.0505259102 |
0.355 |
|
| 2005 |
Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y, Laxer R, Goldbach-Mansky R, Warman ML. Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. The Journal of Biological Chemistry. 280: 31325-32. PMID 16000300 DOI: 10.1074/Jbc.M505401200 |
0.412 |
|
| 2005 |
Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML. Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling. Molecular and Cellular Biology. 25: 4946-55. PMID 15923613 DOI: 10.1128/Mcb.25.12.4946-4955.2005 |
0.463 |
|
| 2005 |
Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Osteoarthritis and Cartilage. 13: 497-507. PMID 15922184 DOI: 10.1016/J.Joca.2005.02.005 |
0.322 |
|
| 2005 |
Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. The Journal of Clinical Investigation. 115: 622-31. PMID 15719068 DOI: 10.1172/Jci200522263 |
0.35 |
|
| 2005 |
Kutz WE, Gong Y, Warman ML. WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. Molecular and Cellular Biology. 25: 414-21. PMID 15601861 DOI: 10.1128/Mcb.25.1.414-421.2005 |
0.42 |
|
| 2004 |
Holmen SL, Giambernardi TA, Zylstra CR, Buckner-Berghuis BD, Resau JH, Hess JF, Glatt V, Bouxsein ML, Ai M, Warman ML, Williams BO. Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 19: 2033-40. PMID 15537447 DOI: 10.1359/Jbmr.040907 |
0.453 |
|
| 2004 |
Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. American Journal of Medical Genetics. Part A. 128: 23-8. PMID 15211651 DOI: 10.1002/Ajmg.A.30033 |
0.416 |
|
| 2004 |
Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, ... ... Warman ML, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics. 75: 27-34. PMID 15146390 DOI: 10.1086/422013 |
0.444 |
|
| 2004 |
Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Annals of Neurology. 55: 291-4. PMID 14755735 DOI: 10.1002/Ana.10849 |
0.327 |
|
| 2003 |
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, ... ... Warman M, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. American Journal of Human Genetics. 73: 791-800. PMID 14508707 DOI: 10.1086/378418 |
0.431 |
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| 2003 |
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. European Journal of Human Genetics : Ejhg. 11: 265-70. PMID 12673280 DOI: 10.1038/Sj.Ejhg.5200950 |
0.41 |
|
| 2003 |
Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density American Journal of Human Genetics. 72: 763-771. PMID 12579474 DOI: 10.1086/368277 |
0.453 |
|
| 2003 |
Savarirayan R, White SM, Goodman FR, Graham JM, 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. American Journal of Medical Genetics. Part A. 117: 136-42. PMID 12567410 DOI: 10.1002/Ajmg.A.10924 |
0.496 |
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| 2003 |
Warman M. Delineating biologic pathways involved in skeletal growth and homeostasis through the study of rare Mendelian diseases that affect bones and joints Arthritis Research & Therapy. 5: 5-5. DOI: 10.1186/Ar804 |
0.425 |
|
| 2002 |
McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Human Genetics. 111: 368-75. PMID 12384778 DOI: 10.1007/S00439-002-0815-2 |
0.416 |
|
| 2002 |
Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, ... ... Warman ML, et al. The mutational spectrum of brachydactyly type C. American Journal of Medical Genetics. 112: 291-6. PMID 12357473 DOI: 10.1002/Ajmg.10777 |
0.467 |
|
| 2002 |
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). American Journal of Human Genetics. 70: 866-74. PMID 11845407 DOI: 10.1086/339492 |
0.463 |
|
| 2001 |
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, ... ... Warman ML, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 107: 513-23. PMID 11719191 DOI: 10.1016/S0092-8674(01)00571-2 |
0.365 |
|
| 2001 |
Jepsen KJ, Pennington DE, Lee YL, Warman M, Nadeau J. Bone brittleness varies with genetic background in A/J and C57BL/6J inbred mice Journal of Bone and Mineral Research. 16: 1854-1862. PMID 11585350 DOI: 10.1359/Jbmr.2001.16.10.1854 |
0.342 |
|
| 2001 |
Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. Proceedings of the National Academy of Sciences of the United States of America. 98: 11353-8. PMID 11562478 DOI: 10.1073/Pnas.201367598 |
0.491 |
|
| 2000 |
Warman ML. Human genetic insights into skeletal development, growth, and homeostasis. Clinical Orthopaedics and Related Research. 379. PMID 11039750 DOI: 10.1097/00003086-200010001-00006 |
0.304 |
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| 2000 |
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. American Journal of Human Genetics. 66: 368-77. PMID 10677296 DOI: 10.1086/302750 |
0.442 |
|
| 1999 |
Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, ... ... Warman ML, et al. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nature Genetics. 23: 319-22. PMID 10545950 DOI: 10.1038/15496 |
0.415 |
|
| 1999 |
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, Friedrich CA, Kaitila I, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes American Journal of Human Genetics. 65: 974-983. PMID 10486316 DOI: 10.1086/302585 |
0.433 |
|
| 1999 |
Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, ... Warman ML, et al. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nature Genetics. 23: 94-8. PMID 10471507 DOI: 10.1038/12699 |
0.439 |
|
| 1999 |
Paassilta P, Pihlajamaa T, Annunen S, Brewton RG, Wood BM, Johnson CC, Liu J, Gong Y, Warman ML, Prockop DJ, Mayne R, Ala-Kokko L. Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. The Journal of Biological Chemistry. 274: 22469-75. PMID 10428822 DOI: 10.1074/Jbc.274.32.22469 |
0.345 |
|
| 1999 |
Robin NH, Hurvitz J, Warman ML, Morrison S. Clinical and molecular studies of brachydactyly type D. American Journal of Medical Genetics. 85: 413-8. PMID 10398270 DOI: 10.1002/(Sici)1096-8628(19990806)85:4<413::Aid-Ajmg20>3.0.Co;2-C |
0.315 |
|
| 1999 |
Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M. A gene for inherited cutaneous venous anomalies ('Glomangiomas') localizes to chromosome 1p21-22 American Journal of Human Genetics. 65: 125-133. PMID 10364524 DOI: 10.1086/302450 |
0.396 |
|
| 1999 |
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, ... ... Warman ML, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genetics. 21: 302-4. PMID 10080184 DOI: 10.1038/6821 |
0.488 |
|
| 1999 |
Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. American Journal of Human Genetics. 64: 570-7. PMID 9973295 DOI: 10.1086/302249 |
0.31 |
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| 1998 |
Kurima K, Warman ML, Krishnan S, Domowicz M, Krueger RC, Deyrup A, Schwartz NB. A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proceedings of the National Academy of Sciences of the United States of America. 95: 8681-5. PMID 9671738 DOI: 10.1073/Pnas.95.15.8681 |
0.392 |
|
| 1998 |
Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. American Journal of Human Genetics. 63: 155-62. PMID 9634515 DOI: 10.1086/301917 |
0.323 |
|
| 1998 |
Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics. 62: 816-23. PMID 9529347 DOI: 10.1086/301789 |
0.407 |
|
| 1998 |
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. The Journal of Pediatrics. 132: 368-71. PMID 9506662 DOI: 10.1016/S0022-3476(98)70466-4 |
0.366 |
|
| 1997 |
Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genetics. 17: 18-9. PMID 9288091 DOI: 10.1038/Ng0997-18 |
0.405 |
|
| 1997 |
Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. Clinical and locus heterogeneity in brachydactyly type C. American Journal of Medical Genetics. 68: 369-77. PMID 9024575 DOI: 10.1002/(Sici)1096-8628(19970131)68:3<369::Aid-Ajmg23>3.0.Co;2-Q |
0.317 |
|
| 1996 |
Vikkula M, Boon LM, Carraway KL, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2 Cell. 87: 1181-1190. PMID 8980225 DOI: 10.1016/S0092-8674(00)81814-0 |
0.386 |
|
| 1996 |
Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Hamel BC, Olsen BR. A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2). Annals of the New York Academy of Sciences. 785: 303-6. PMID 8702162 DOI: 10.1111/J.1749-6632.1996.Tb56291.X |
0.447 |
|
| 1996 |
Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nature Genetics. 12: 103-5. PMID 8528240 DOI: 10.1038/Ng0196-103 |
0.455 |
|
| 1995 |
Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell. 80: 423-30. PMID 7859283 DOI: 10.1016/0092-8674(95)90492-1 |
0.423 |
|
| 1995 |
Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Human Molecular Genetics. 3: 1583-7. PMID 7833915 DOI: 10.1093/Hmg/3.9.1583 |
0.333 |
|
| 1995 |
Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. Journal of Medical Genetics. 32: 197-9. PMID 7783168 DOI: 10.1136/Jmg.32.3.197 |
0.321 |
|
| 1995 |
Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Human Molecular Genetics. 4: 71-5. PMID 7711736 DOI: 10.1093/Hmg/4.1.71 |
0.331 |
|
| 1994 |
McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Human Molecular Genetics. 3: 303-7. PMID 8004099 DOI: 10.1093/Hmg/3.2.303 |
0.467 |
|
| 1994 |
Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Human Genetics. 93: 236-42. PMID 7907311 DOI: 10.1007/Bf00212015 |
0.327 |
|
| 1994 |
Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics. 3: 1561-4. PMID 7833911 DOI: 10.1093/Hmg/3.9.1561 |
0.399 |
|
| 1993 |
Müller U, Warman ML, Mulliken JB, Weber JL. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Human Molecular Genetics. 2: 119-22. PMID 8499900 DOI: 10.1093/Hmg/2.2.119 |
0.367 |
|
| 1993 |
Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. A type X collagen mutation causes schmid metaphyseal chondrodysplasia Nature Genetics. 5: 79-82. PMID 8220429 DOI: 10.1038/Ng0993-79 |
0.419 |
|
| 1993 |
Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis Cell. 75: 443-450. PMID 8106171 DOI: 10.1016/0092-8674(93)90379-5 |
0.419 |
|
| 1983 |
Warman M, Boskey AL. Effect of high levels of corticosteroids on the lipids of the long bones of the mature rabbit. Metabolic Bone Disease & Related Research. 4: 319-24. PMID 6621357 DOI: 10.1016/S0221-8747(83)80006-X |
0.308 |
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