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1
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Tompson, Stuart W. ; Merriman, Barry ; Funari, Vincent A. ; Fresquet, Maryline ; Lachman, Ralph S. ; Rimoin, David L. ; Nelson, Stanley F. ; Briggs, Michael D. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-01, Vol.84 (1), p.72-79 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Krakow, Deborah ; Vriens, Joris ; Camacho, Natalia ; Luong, Phi ; Deixler, Hannah ; Funari, Tara L. ; Bacino, Carlos A. ; Irons, Mira B. ; Holm, Ingrid A. ; Sadler, Laurie ; Okenfuss, Ericka B. ; Janssens, Annelies ; Voets, Thomas ; Rimoin, David L. ; Lachman, Ralph S. ; Nilius, Bernd ; Cohn, Daniel H.

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
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A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Stattin, Eva-Lena ; Wiklund, Fredrik ; Lindblom, Karin ; Önnerfjord, Patrik ; Jonsson, Björn-Anders ; Tegner, Yelverton ; Sasaki, Takako ; Struglics, André ; Lohmander, Stefan ; Dahl, Niklas ; Heinegård, Dick ; Aspberg, Anders

American journal of human genetics, 2010-02, Vol.86 (2), p.126-137 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Tompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.

American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline ; Faqeih, Eissa Ali ; Bartholdi, Deborah ; Bole-Feysot, Christine ; Borochowitz, Zvi ; Cavalcanti, Denise P. ; Frigo, Amandine ; Nitschke, Patrick ; Roume, Joelle ; Santos, Heloísa G. ; Shalev, Stavit A. ; Superti-Furga, Andrea ; Delezoide, Anne-Lise ; Le Merrer, Martine ; Munnich, Arnold ; Cormier-Daire, Valérie

American journal of human genetics, 2013-01, Vol.92 (1), p.144-149 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Knowles, Michael R. ; Leigh, Margaret W. ; Ostrowski, Lawrence E. ; Huang, Lu ; Carson, Johnny L. ; Hazucha, Milan J. ; Yin, Weining ; Berg, Jonathan S. ; Davis, Stephanie D. ; Dell, Sharon D. ; Ferkol, Thomas W. ; Rosenfeld, Margaret ; Sagel, Scott D. ; Milla, Carlos E. ; Olivier, Kenneth N. ; Turner, Emily H. ; Lewis, Alexandra P. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Shendure, Jay ; Zariwala, Maimoona A.

American journal of human genetics, 2013-01, Vol.92 (1), p.99-106 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
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Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Knowles, Michael R. ; Ostrowski, Lawrence E. ; Loges, Niki T. ; Hurd, Toby ; Leigh, Margaret W. ; Huang, Lu ; Wolf, Whitney E. ; Carson, Johnny L. ; Hazucha, Milan J. ; Yin, Weining ; Davis, Stephanie D. ; Dell, Sharon D. ; Ferkol, Thomas W. ; Sagel, Scott D. ; Olivier, Kenneth N. ; Jahnke, Charlotte ; Olbrich, Heike ; Werner, Claudius ; Raidt, Johanna ; Wallmeier, Julia ; Pennekamp, Petra ; Dougherty, Gerard W. ; Hjeij, Rim ; Gee, Heon Yung ; Otto, Edgar A. ; Halbritter, Jan ; Chaki, Moumita ; Diaz, Katrina A. ; Braun, Daniela A. ; Porath, Jonathan D. ; Schueler, Markus ; Baktai, György ; Griese, Matthias ; Turner, Emily H. ; Lewis, Alexandra P. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Hildebrandt, Friedhelm ; Shendure, Jay ; Omran, Heymut ; Zariwala, Maimoona A.

American journal of human genetics, 2013-10, Vol.93 (4), p.711-720 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Rosenthal, Elisabeth A. ; Ranchalis, Jane ; Crosslin, David R. ; Burt, Amber ; Brunzell, John D. ; Motulsky, Arno G. ; Nickerson, Deborah A. ; Wijsman, Ellen M. ; Jarvik, Gail P.

American journal of human genetics, 2013-12, Vol.93 (6), p.1035-1045 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A. ; Schmidt, Ellen M. ; Bizon, Chris ; Jun, Goo ; Auer, Paul ; Li, Kuo-ping ; Locke, Adam ; Rivas, Manuel A. ; Feitosa, Mary F. ; Zhang, Qunyuan ; Huffman, Jennifer E. ; Crosby, Jacy ; Robinson, Jennifer G. ; Crosslin, David R. ; Rosenthal, Elisabeth A. ; Tsai, Michael ; Rieder, Mark J. ; Fox, Ervin R. ; van Duijn, Cornelia M. ; Taylor, Herman A. ; Loos, Ruth J.F. ; Ballantyne, Christie M. ; Reiner, Alexander P. ; Cupples, L. Adrienne ; Kang, Hyun Min ; Lettre, Guillaume ; Rader, Daniel J. ; Reilly, Muredach P. ; Stoletzki, Nina ; Barr, R. Graham ; Benjamin, Emelia J. ; Carr, Jeff ; Dupuis, Josée ; Ellis, Jaclyn ; Fornage, Myriam ; Goff, David ; Grody, Wayne ; Heard-Costa, Nancy L. ; Levy, Daniel ; Li, Dalin ; Loria, Cay ; Mackey, Rachel ; Quinlan, Aaron R. ; Rice, Kenneth ; Sanders, Jill P. ; Tracy, Russell P. ; Tsai, Michael Y. ; Wassel, Chrstina L. ; Watson, Karol ; Wilson, Gregory ; Wilson, James G. ; Zakai, Neil A. ; Nalls, Michael ; Bamshad, Michael J. ; Accurso, Frank ; Beaty, Terri ; Caplan, Daniel ; Chidekel, Aaron ; Christiani, David C. ; De Paula, Alicia ; Gutierrez, Hector ; Hassoun, Paul M. ; Hiatt, Peter ; Hummer, Laura K. ; Kim, Yoonhee ; Lin, Xihong ; Louie, Tin L. ; Mathias, Rasika A. ; McNamara, John ; McNamara, Sharon ; Nielson, Dennis ; Orenstein, David ; O’Sullivan, Brian ; Passero, Mary Ann ; Perkett, Elizabeth ; Spencer, Terry ; Tabor, Holly K. ; Weiss, Robert ; Wigley, Fred ; Wise, Robert A. ; Wurfel, Mark M. ; Eichler, Evan E. ; Fu, Wenqing ; Smith, Joshua D. ; Tennessen, Jacob A. ; Peters, Ulrike ; Brzyski, Robert ; Curb, J. David ; Eaton, Charles B. ; Heiss, Gerardo ; Johnson, Karen C. ; Lasser, Norman ; Lin, Dan-Yu ; Logsdon, Benjamin A. ; Manson, JoAnn E. ; Martin, Lisa ; Stein, Evan ; Applebaum-Bowden, Deborah ; Paltoo, Dina N. ; Sturcke, Anne

American journal of human genetics, 2014-02, Vol.94 (2), p.233-245 [Periódico revisado por pares]

United States: Elsevier Inc

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