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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Author / Creator:Yang, Yaping ; Muzny, Donna M ; Reid, Jeffrey G ; Bainbridge, Matthew N ; Willis, Alecia ; Ward, Patricia A ; Braxton, Alicia ; Beuten, Joke ; Xia, Fan ; Niu, Zhiyv ; Hardison, Matthew ; Person, Richard ; Bekheirnia, Mir Reza ; Leduc, Magalie S ; Kirby, Amelia ; Pham, Peter ; Scull, Jennifer ; Wang, Min ; Ding, Yan ; Plon, Sharon E ; Lupski, James R ; Beaudet, Arthur L ; Gibbs, Richard A ; Eng, Christine M
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Author / Creator:Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Author / Creator:YAPING YANG ; MUZNY, Donna M ; HARDISON, Matthew ; PERSON, Richard ; MIR REZA BEKHEIRNIA ; LEDUC, Magalie S ; KIRBY, Amelia ; PHAM, Peter ; SCULL, Jennifer ; MIN WANG ; YAN DING ; PLON, Sharon E ; REID, Jeffrey G ; LUPSKI, James R ; BEAUDET, Arthur L ; GIBBS, Richard A ; ENG, Christine M ; BAINBRIDGE, Matthew N ; WILLIS, Alecia ; WARD, Patricia A ; BRAXTON, Alicia ; BEUTEN, Joke ; FAN XIA ; NIU, Zhiyv
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511
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Identification of viral infections in the prostate and evaluation of their association with cancer
Author / Creator:Martinez-Fierro, Margarita L ; Leach, Robin J ; Gomez-Guerra, Lauro S ; Garza-Guajardo, Raquel ; Johnson-Pais, Teresa ; Beuten, Joke ; Morales-Rodriguez, Idelma B ; Hernandez-Ordoñez, Mario A ; Calderon-Cardenas, German ; Ortiz-Lopez, Rocio ; Rivas-Estilla, Ana M ; Ancer-Rodriguez, Jesus ; Rojas-Martinez, Augusto
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2010-06, Vol.10 (1), p.326-326, Article 326
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Ancestry informative markers and admixture proportions in northeastern Mexico
Author / Creator:Martinez-Fierro, Margarita L ; Beuten, Joke ; Leach, Robin J ; Parra, Esteban J ; Cruz-Lopez, Miguel ; Rangel-Villalobos, Hector ; Riego-Ruiz, Lina R ; Ortiz-Lopez, Rocio ; Martinez-Rodriguez, Herminia G ; Rojas-Martinez, Augusto
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2009-09, Vol.54 (9), p.504-509
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Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample
Author / Creator:Huang, Weihua ; Payne, Thomas J ; Ma, Jennie Z ; Beuten, Joke ; Dupont, Randolph T ; Inohara, Naohiro ; Li, Ming D
Publisher:England: Nature Publishing Group
Journal title:Neuropsychopharmacology (New York, N.Y.), 2009-01, Vol.34 (2), p.319-330
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Significant association of catechol-O-methyltransferase (COMT) haplotypes with nicotine dependence in male and female smokers of two ethnic populations
Author / Creator:BEUTEN, Joke ; PAYNE, Thomas J ; MA, Jennie Z ; LI, Ming D
Publisher:New York, NY: Nature Publishing
Journal title:Neuropsychopharmacology (New York, N.Y.), 2006-03, Vol.31 (3), p.675-684
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Author / Creator:Wang, Xia ; Posey, Jennifer E. ; Rosenfeld, Jill A. ; Bacino, Carlos A. ; Scaglia, Fernando ; Immken, LaDonna ; Harris, Jill M. ; Hickey, Scott E. ; Mosher, Theresa M. ; Slavotinek, Anne ; Zhang, Jing ; Beuten, Joke ; Leduc, Magalie S. ; He, Weimin ; Vetrini, Francesco ; Walkiewicz, Magdalena A. ; Bi, Weimin ; Xiao, Rui ; Liu, Pengfei ; Shao, Yunru ; Gezdirici, Alper ; Gulec, Elif Y. ; Jiang, Yunyun ; Darilek, Sandra A. ; Hansen, Adam W. ; Khayat, Michael M. ; Pehlivan, Davut ; Piard, Juliette ; Muzny, Donna M. ; Hanchard, Neil ; Belmont, John W. ; Van Maldergem, Lionel ; Gibbs, Richard A. ; Eldomery, Mohammad K. ; Akdemir, Zeynep C. ; Adesina, Adekunle M. ; Chen, Shan ; Lee, Yi‐Chien ; Lee, Brendan ; Lupski, James R. ; Eng, Christine M. ; Xia, Fan ; Yang, Yaping ; Graham, Brett H. ; Moretti, Paolo
Publisher:United States: John Wiley and Sons Inc
Journal title:Annals of clinical and translational neurology, 2018-10, Vol.5 (10), p.1277-1285
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Significant association of DRD1 with nicotine dependence
Author / Creator:Huang, Weihua ; Ma, Jennie Z. ; Payne, Thomas J. ; Beuten, Joke ; Dupont, Randolph T. ; Li, Ming D.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2008-03, Vol.123 (2), p.133-140
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Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease
Author / Creator:Martinez-Fierro, Margarita L. ; Cabral-Pacheco, Griselda A. ; Garza-Veloz, Idalia ; Acuña-Quiñones, Jesus ; Martinez-de-Villarreal, Laura E. ; Ibarra-Ramirez, Marisol ; Beuten, Joke ; Sanchez-Guerrero, Samantha E. ; Villarreal-Martinez, Laura ; Delgado-Enciso, Ivan ; Rodriguez-Sanchez, Iram P. ; Zuñiga-Ramirez, Vania Z. ; Cardenas-Vargas, Edith ; Romero-Diaz, Viktor
Publisher:Basel: MDPI AG
Journal title:Genes, 2021-05, Vol.12 (5), p.744
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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: e1004258
Author / Creator:Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur ; Genomics, Center Mendelian
Publisher:San Francisco: Public Library of Science
Journal title:PLoS genetics, 2014-03, Vol.10 (3)
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Gene-based analysis suggests association of the nicotinic acetylcholine receptor β1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence
Author / Creator:LOU, Xiang-Yang ; MA, Jennie Z ; PAYNE, Thomas J ; BEUTEN, Joke ; CREW, Karen M ; LI, Ming D
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2006-10, Vol.120 (3), p.381-389
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Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta 1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence
Author / Creator:Lou, X-Y ; Ma, J Z ; Payne, T J ; Beuten, J ; Crew, K M ; Li, MD
Journal title:Human genetics, 2006-10, Vol.120 (3), p.381-389
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Significant Association of ANKK1 and Detection of a Functional Polymorphism with Nicotine Dependence in an African-American Sample: Special Theme: Neurotransmission and Addiction: Recent Translational...
Author / Creator:Huang, Weihua ; Payne, Thomas J ; Ma, Jennie Z ; Beuten, Joke ; Dupont, Randolph T ; Inohara, Naohiro ; Li, Ming D
Publisher:Cham: Springer International Publishing
Journal title:Neuropsychopharmacology (New York, N.Y.), 2009-01, Vol.34 (2), p.319-330
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Significant Association of ANKKI and Detection of a Functional Polymorphism with Nicotine Dependence in an African-American Sample : Neurotransmission and Addiction: Recent Translational Findings
Author / Creator:WEIHUA HUANG ; PAYNE, Thomas J ; MA, Jennie Z ; BEUTEN, Joke ; DUPONT, Randolph T ; INOHARA, Naohiro ; LI, Ming D
Publisher:Basingstoke: Nature Publishing Group
Journal title:Neuropsychopharmacology (New York, N.Y.), 2009, Vol.34 (2), p.319-330
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Phenotypic expansion in DDX 3X – a common cause of intellectual disability in females
Author / Creator:Wang, Xia ; Posey, Jennifer E. ; Rosenfeld, Jill A. ; Bacino, Carlos A. ; Scaglia, Fernando ; Immken, LaDonna ; Harris, Jill M. ; Hickey, Scott E. ; Mosher, Theresa M. ; Slavotinek, Anne ; Zhang, Jing ; Beuten, Joke ; Leduc, Magalie S. ; He, Weimin ; Vetrini, Francesco ; Walkiewicz, Magdalena A. ; Bi, Weimin ; Xiao, Rui ; Liu, Pengfei ; Shao, Yunru ; Gezdirici, Alper ; Gulec, Elif Y. ; Jiang, Yunyun ; Darilek, Sandra A. ; Hansen, Adam W. ; Khayat, Michael M. ; Pehlivan, Davut ; Piard, Juliette ; Muzny, Donna M. ; Hanchard, Neil ; Belmont, John W. ; Van Maldergem, Lionel ; Gibbs, Richard A. ; Eldomery, Mohammad K. ; Akdemir, Zeynep C. ; Adesina, Adekunle M. ; Chen, Shan ; Lee, Yi‐Chien ; Lee, Brendan ; Lupski, James R. ; Eng, Christine M. ; Xia, Fan ; Yang, Yaping ; Graham, Brett H. ; Moretti, Paolo
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2018-10, Vol.5 (10), p.1277-1285
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Significant Association of Catechol-O-Methyltransferase (COMT) Haplotypes with Nicotine Dependence in Male and Female Smokers of Two Ethnic Populations: Clinical Research
Author / Creator:Beuten, Joke ; Payne, Thomas J ; Ma, Jennie Z ; Li, Ming D
Publisher:Cham: Springer International Publishing
Journal title:Neuropsychopharmacology (New York, N.Y.), 2006-03, Vol.31 (3), p.675-684
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Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence
Author / Creator:Lou, Xiang-Yang ; Ma, Jennie Z ; Payne, Thomas J ; Beuten, Joke ; Crew, Karen M ; Li, Ming D
Publisher:Germany
Journal title:Human genetics, 2006-10, Vol.120 (3), p.381
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Gene-based analysis suggests association of the nicotinic acetylcholine receptor [beta]1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence
Author / Creator:Xiang-Yang, Lou ; Ma, Jennie Z ; Payne, Thomas J ; Beuten, Joke ; Crew, Karen M ; Li, Ming D
Publisher:Heidelberg: Springer Nature B.V
Journal title:Human genetics, 2006-10, Vol.120 (3), p.381
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Phenotypic expansion in DDX3X a common cause of intellectual disability in females
Author / Creator:Wang, Xia ; Rosenfeld, Jill A ; Bacino, Carlos A ; Scaglia, Fernando ; Immken, Ladonna ; Harris, Jill M ; Hickey, Scott E ; Mosher, Theresa M ; Slavotinek, Anne ; Zhang, Jing ; Beuten, Joke ; Leduc, Magalie S ; He, Weimin ; Vetrini, Francesco ; Walkiewicz, Magdalena ; Bi, Weimin ; Xiao, Rui ; Shao, Yunru ; Alper Gezdirici ; Jiang, Yunyun ; Hansen, Adam ; Pehlivan, Davut ; Piard, Juliette ; Muzny, Donna ; Hanchard, Neil ; Belmont, John ; Lionel Van Maldergem ; Gibbs, Richard ; Eldomery, Mohammad ; Akdemir, Zeynep ; Harel, Tamar ; Posey, Jennifer E ; Adesina, Adekunle ; Chen, Shan ; Members Of The Udn ; Lee, Brendan ; Lupski, James R ; Eng, Christine ; Fan, Xia ; Yang, Yaping ; Graham, Brett ; Moretti, Paolo
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-03
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Identification of viral infections in the prostate and evaluation of their association with cancer

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Ancestry informative markers and admixture proportions in northeastern Mexico

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Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample

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Significant association of catechol-O-methyltransferase (COMT) haplotypes with nicotine dependence in male and female smokers of two ethnic populations

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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

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Significant association of DRD1 with nicotine dependence

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Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: e1004258

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Gene-based analysis suggests association of the nicotinic acetylcholine receptor β1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence

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Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta 1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence

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Significant Association of ANKK1 and Detection of a Functional Polymorphism with Nicotine Dependence in an African-American Sample: Special Theme: Neurotransmission and Addiction: Recent Translational...

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Significant Association of ANKKI and Detection of a Functional Polymorphism with Nicotine Dependence in an African-American Sample : Neurotransmission and Addiction: Recent Translational Findings

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Phenotypic expansion in DDX 3X – a common cause of intellectual disability in females

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Significant Association of Catechol-O-Methyltransferase (COMT) Haplotypes with Nicotine Dependence in Male and Female Smokers of Two Ethnic Populations: Clinical Research

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Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence

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Gene-based analysis suggests association of the nicotinic acetylcholine receptor [beta]1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence

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Phenotypic expansion in DDX3X a common cause of intellectual disability in females

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