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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes
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Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes

Shannon Marchegiani Taylor Davis; Federico Tessadori; Gijs van Haaften; Francesco Brancati; Alexander Hoischen; Haigen Huang; Elise Valkanas; Barbara Pusey; Denny Schanze; Hanka Venselaar; Anneke T Vulto-van Silfhout; Lynne A Wolfe; Cynthia J Tifft; Patricia M Zerfas; Giovanna Zambruno; Ariana Kariminejad; Farahnaz Sabbagh-Kermani; Janice Lee; Maria G Tsokos; Chyi-Chia R Lee; Victor Evangelista de Faria Ferraz; Eduarda Morgana da Silva; Cathy A Stevens; Nathalie Roche; Oliver Bartsch; Peter Farndon; Eva Bermejo-Sanchez; Brian P Brooks; Valerie Maduro; Bruno Dallapiccola; Feliciano J Ramos; Hon-Yin Brian Chung; Cédric Le Caignec; Fabiana Martins; Witold K Jacyk; Laura Mazzanti; Han G Brunner; Jeroen Bakkers; Shuo Lin; May Christine V Malicdan; Cornelius F Boerkoel; William A Gahl; Bert B. A. de Vries Mieke M. van Haelst; Martin Zenker; Thomas C Markello

American Journal of Human Genetics Cambridge v. 97, n. 1, p. 99-110, 2015

Cambridge 2015

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2718771 Estantes Deslizantes )(Acessar)

2
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Wan, Ying-Wooi ; Wangler, Michael F. ; Yamamoto, Shinya ; Chao, Hsiao-Tuan ; Mohr, Stephanie E. ; Adams, Christopher J. ; Allard, Patrick ; Azamian, Mashid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Birch, Camille L. ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Chao, Katherine R. ; Clark, Gary D. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Craigen, William J. ; Dell’Angelica, Esteban C. ; Donnell-Fink, Laurel A. ; Draper, David D. ; Dries, Annika M. ; Emrick, Lisa T. ; Goheen, Mitchell ; Golas, Gretchen A. ; Goldstein, David B. ; Gordon, Mary G. ; Gourdine, Jean-Philippe F. ; Graham, Brett H. ; Groden, Catherine A. ; Hackbarth, Mary E. ; Hamid, Rizwan ; Hardee, Isabel ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Johnston, Jean M. ; Koeller, David M. ; Kohler, Jennefer N. ; Krier, Joel B. ; Kyle, Jennifer E. ; Lalani, Seema R. ; Latham, Lea ; Latour, Yvonne L. ; Lee, Paul R. ; Levy, Shawn E. ; Liebendorfer, Adam P. ; Loomis, Carson R. ; Maas, Richard L. ; MacRae, Calum A. ; Manolio, Teri A. ; McConkie-Rosell, Allyn ; McCray, Alexa T. ; Moretti, Paolo M. ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Novacic, Donna ; Orange, Jordan S. ; Pena, Loren D.M. ; Posey, Jennifer E. ; Potocki, Lorraine ; Ramoni, Rachel B. ; Robertson, Amy K. ; Rodan, Lance H. ; Schoch, Kelly ; Scott, Daryl A. ; Sharma, Prashant ; Silverman, Edwin K. ; Soldatos, Ariane G. ; Splinter, Kimberly ; Stoler, Joan M. ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Tran, Alyssa A. ; Vilain, Eric ; Wahl, Colleen E. ; Walley, Nicole M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wolfe, Lynne A. ; Yamamoto, Shinya ; Yang, Yaping ; Zornio, Patricia A. ; Perrimon, Norbert ; Bellen, Hugo J.

American journal of human genetics, 2017-06, Vol.100 (6), p.843-853 [Periódico revisado por pares]

United States: Elsevier Inc

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3
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Ferreira, Carlos R. ; Xia, Zhi-Jie ; Clément, Aurélie ; Parry, David A. ; Davids, Mariska ; Taylan, Fulya ; Sharma, Prashant ; Turgeon, Coleman T. ; Blanco-Sánchez, Bernardo ; Ng, Bobby G. ; Logan, Clare V. ; Wolfe, Lynne A. ; Solomon, Benjamin D. ; Cho, Megan T. ; Douglas, Ganka ; Carvalho, Daniel R. ; Bratke, Heiko ; Haug, Marte Gjøl ; Phillips, Jennifer B. ; Wegner, Jeremy ; Tiemeyer, Michael ; Aoki, Kazuhiro ; Nordgren, Ann ; Hammarsjö, Anna ; Duker, Angela L. ; Rohena, Luis ; Hove, Hanne Buciek ; Ek, Jakob ; Adams, David ; Tifft, Cynthia J. ; Onyekweli, Tito ; Weixel, Tara ; Macnamara, Ellen ; Radtke, Kelly ; Powis, Zöe ; Earl, Dawn ; Gabriel, Melissa ; Russi, Alvaro H. Serrano ; Brick, Lauren ; Kozenko, Mariya ; Tham, Emma ; Raymond, Kimiyo M. ; Phillips, John A. ; Tiller, George E. ; Wilson, William G. ; Hamid, Rizwan ; Malicdan, May C.V. ; Nishimura, Gen ; Grigelioniene, Giedre ; Jackson, Andrew ; Westerfield, Monte ; Bober, Michael B. ; Gahl, William A. ; Freeze, Hudson H.

American journal of human genetics, 2018-10, Vol.103 (4), p.553-567 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

Kane, Megan S. ; Davids, Mariska ; Adams, Christopher ; Wolfe, Lynne A. ; Cheung, Helen W. ; Gropman, Andrea ; Huang, Yan ; Ng, Bobby G. ; Freeze, Hudson H. ; Adams, David R. ; Gahl, William A. ; Boerkoel, Cornelius F.

American journal of human genetics, 2016-02, Vol.98 (2), p.339-346 [Periódico revisado por pares]

United States: Elsevier Inc

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5
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Ramoni, Rachel B. ; Mulvihill, John J. ; Adams, David R. ; Allard, Patrick ; Ashley, Euan A. ; Gahl, William A. ; Loscalzo, Joseph ; Adams, Christopher J. ; Alejandro, Mercedes E. ; Allard, Patrick ; Ashley, Euan A. ; Azamian, Mashid S. ; Balasubramanyam, Ashok ; Beggs, Alan H. ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Birch, Camille L. ; Boone, Braden E. ; Briere, Lauren C. ; Brush, Matthew ; Cogan, Joy D. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Eckstein, David J. ; Estwick, Tyra ; Godfrey, Rena A. ; Goheen, Mitchell ; Goldstein, David B. ; Gordon, Mary “Gracie” G. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Hamid, Rizwan ; Handley, Lori H. ; Hardee, Isabel ; Holm, Ingrid A. ; Howerton, Ellen M. ; Jacob, Howard J. ; Jones, Angela L. ; Koehler, Alanna E. ; Kohler, Jennefer N. ; Krasnewich, Donna M. ; Kyle, Jennifer E. ; Latham, Lea ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Hane ; Lee, Paul R. ; Levy, Shawn E. ; Levy, Denise J. ; Lewis, Richard A. ; Liebendorder, Adam P. ; Loomis, Carson R. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Manolio, Teri A. ; Markello, Thomas C. ; Mazur, Paul ; McConkie-Rosell, Allyn ; Metz, Thomas O. ; Might, Matthew ; Moretti, Paolo M. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newman, John H. ; Nicholas, Sarah K. ; Palmer, Christina G.S. ; Phillips, John A. ; Postlethwait, John H. ; Rosenfeld, Jill A. ; Schaffer, Katherine E. ; Schroeder, Molly C. ; Scott, Daryl A. ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Stong, Nicholas ; Sullivan, Jennifer A. ; Tolman, Nathanial J. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Waggott, Daryl M. ; Walsh, Chris A. ; Wangler, Michael F. ; Warburton, Mike ; Ward, Patricia A. ; Waters, Katrina M. ; Wheeler, Matthew T. ; Yu, Guoyun ; Wise, Anastasia L.

American journal of human genetics, 2017-02, Vol.100 (2), p.185-192 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Davids, Mariska ; Pappas, John G. ; Rosenfeld, Jill A. ; McCarty, Alexandra J. ; Tifft, Cynthia ; Stong, Nicholas ; Johnson, Travis K. ; Warr, Coral G. ; Adams, Christopher J. ; Alejandro, Mercedes E. ; Ashley, Euan A. ; Barseghyan, Hayk ; Beggs, Alan H. ; Bernstein, Jonathan A. ; Briere, Lauren C. ; Brush, Matthew ; Cogan, Joy D. ; Craigen, William J. ; Davids, Mariska ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Fisher, Paul G. ; Frisby, Trevor S. ; Frost, Kate ; Gahl, William A. ; Gartner, Valerie ; Golas, Gretchen A. ; Gould, Sarah E. ; Graham, Brett H. ; Groden, Catherine A. ; Gropman, Andrea L. ; Haendel, Melissa ; Hanchard, Neil A. ; Herzog, Matthew R. ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-hui ; Jones, Angela L. ; Koehler, Alanna E. ; Kohane, Isaac S. ; Krasnewich, Donna M. ; Krieg, Elizabeth L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Levy, Denise J. ; Liebendorder, Adam P. ; Lincoln, Sharyn A. ; Loomis, Carson R. ; Loscalzo, Joseph ; Macnamara, Ellen F. ; MacRae, Calum A. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Mazur, Paul ; McCarty, Alexandra J. ; McCray, Alexa T. ; Metz, Thomas O. ; Moretti, Paolo M. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Pena, Loren D.M. ; Phillips, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Pusey, Barbara N. ; Schoch, Kelly ; Scott, Daryl A. ; Sharma, Prashant ; Soldatos, Ariane G. ; Splinter, Kimberly ; Strong, Kimberly A. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Thomas, Sara P. ; Tift, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Vilain, Eric ; Walley, Nicole M. ; Webb-Robertson, Bobbie-Jo M. ; Weech, Alec A. ; Westerfield, Monte ; Wheeler, Matt T. ; Yamamoto, Shinya ; Yang, Yaping ; Zornio, Patricia A. ; Yamamoto, Shinya ; Malicdan, May Christine V.

American journal of human genetics, 2017-01, Vol.100 (1), p.128-137 [Periódico revisado por pares]

United States: Elsevier Inc

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7
IRF2BPL Is Associated with Neurological Phenotypes
IRF2BPL Is Associated with Neurological Phenotypes
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IRF2BPL Is Associated with Neurological Phenotypes

Marcogliese, Paul C. ; Rosenfeld, Jill A. ; Koenig, Mary Kay ; Chen, Agnes H. ; Dickson, Patricia I. ; Vera, Moin U. ; Salamon, Noriko ; Infante, Elena ; Poppe, Bruce ; Chung, Hyung-Lok ; Zuo, Zhongyuan ; Kanca, Oguz ; Xia, Fan ; Smith, Edward C. ; Jasien, Joan ; Kansagra, Sujay ; Lark, Robert ; Riley, Kacie ; Golden-Grant, Katie ; Poppe, Bruce ; Terryn, Wim ; Adams, David R. ; Allard, Patrick ; Bacino, Carlos A. ; Bick, David P. ; Bostwick, Bret L. ; Brush, Matthew ; Burrage, Lindsay C. ; Clark, Gary D. ; Cooper, Cynthia M. ; D’Souza, Precilla ; Davids, Mariska ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dillon, Ani ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Esteves, Cecilia ; Fogel, Brent L. ; Gahl, William A. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Hamid, Rizwan ; Hanchard, Neil A. ; Howerton, Ellen M. ; Jiang, Yong-hui ; Johnston, Jean M. ; Krier, Joel B. ; Lalani, Seema R. ; Lau, C. Christopher ; Lee, Brendan H. ; Levy, Shawn E. ; Lewis, Richard A. ; Lipson, Allen ; Loo, Sandra K. ; Macnamara, Ellen F. ; MacRae, Calum A. ; Manolio, Teri A. ; Martínez-Agosto, Julian A. ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; Morimoto, Marie ; Mulvihill, John J. ; Muzny, Donna M. ; Nelson, Stan F. ; Newberry, J. Scott ; Nicholas, Sarah K. ; Pallais, J. Carl ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A. ; Posey, Jennifer E. ; Postlethwait, John H. ; Potocki, Lorraine ; Robertson, Amy K. ; Sampson, Jacinda B. ; Schoch, Kelly ; Shashi, Vandana ; Smith, Kevin S. ; Splinter, Kimberly ; Stoler, Joan M. ; Sweetser, David A. ; Toro, Camilo ; Urv, Tiina K. ; Vilain, Eric ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walley, Nicole M. ; Walsh, Chris A. ; Waters, Katrina M. ; Westerfield, Monte ; Yu, Guoyun ; Zheng, Allison ; Yamamoto, Shinya ; Wangler, Michael F. ; Lee, Brendan ; Nelson, Stanley F. ; Goldstein, David B. ; Bellen, Hugo J.

American journal of human genetics, 2018-08, Vol.103 (2), p.245-260 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Sullivan, Jennifer A. ; Shashi, Vandana ; Jiang, Yong-hui ; Stong, Nicholas ; Fiala, Elise ; Willing, Marcia ; Pfundt, Rolph ; Kleefstra, Tjitske ; Orellana, Carmen ; Monfort, Sandra ; Roscioli, Tony ; Jones, Wendy D. ; Sebastian, Jessica ; Sonal, Desai ; Sakkubai, Naidu ; Faivre, Laurence ; Krantz, Ian D. ; Adams, David R. ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Barseghyan, Hayk ; Batzli, Gabriel F. ; Beggs, Alan H. ; Bican, Anna ; Birch, Camille L. ; Bonner, Devon ; Boone, Braden E. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Chen, Shan ; Coakley, Terra R. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dillon, Ani ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Dorset, Daniel C. ; Eskin, Ascia ; Friedman, Noah D. ; Glanton, Emily ; Godfrey, Rena A. ; Gould, Sarah E. ; Gropman, Andrea L. ; Hom, Jason ; Jacob, Howard J. ; Jain, Mahim ; Jiang, Yong-hui ; Kohane, Isaac S. ; Krieg, Elizabeth L. ; Lau, C. Christopher ; Lazar, Jozef ; Lee, Brendan H. ; Lee, Hane ; Lewis, Richard A. ; Loo, Sandra K. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; May, Thomas ; McCray, Alexa T. ; Might, Matthew ; Mulvihill, John J. ; Murphy, Jennifer L. ; Nelson, Stan F. ; Newman, John H. ; Novacic, Donna ; Orange, Jordan S. ; Pallais, J. Carl ; Pena, Loren D.M. ; Phillips, John A. ; Postlethwait, John H. ; Reuter, Chloe M. ; Rosenfeld, Jill A. ; Sharma, Prashant ; Shashi, Vandana ; Signer, Rebecca ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Splinter, Kimberly ; Stoler, Joan M. ; Stong, Nicholas ; Sweetser, David A. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Wahl, Colleen E. ; Waters, Katrina M. ; Westerfield, Monte ; Wise, Anastasia L. ; Worthey, Elizabeth A. ; Yang, Yaping ; Zastrow, Diane B. ; Campeau, Philippe M.

American journal of human genetics, 2019-01, Vol.104 (1), p.164-178 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Yoon, Wan Hee ; Jangam, Sharayu ; Davidson, Jean M. ; Grove, Megan E. ; Kohler, Jennefer N. ; Holmes, Matthew ; Zhao, Chunli ; Contrepois, Kévin ; Heyman, Heino M. ; Webb-Robertson, Bobbie-Jo M. ; Alejandro, Mercedes E. ; Allard, Patrick ; Balasubramanyam, Ashok ; Barseghyan, Hayk ; Bican, Anna ; Birch, Camille L. ; Bostwick, Bret L. ; Briere, Lauren C. ; Brown, Donna M. ; Brush, Matthew ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; D’Souza, Precilla ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dorset, Daniel C. ; Draper, David D. ; Eckstein, David J. ; Emrick, Lisa T. ; Esteves, Cecilia ; Estwick, Tyra ; Ferreira, Carlos ; Glanton, Emily ; Godfrey, Rena A. ; Goldstein, David B. ; Gould, Sarah E. ; Gourdine, Jean-Philippe F. ; Hanchard, Neil A. ; Herzog, Matthew R. ; Hom, Jason ; Howerton, Ellen M. ; Huang, Yong ; Jacob, Howard J. ; Jiang, Yong-hui ; Johnston, Jean M. ; Jones, Angela L. ; Kohane, Isaac S. ; Krier, Joel B. ; Lazar, Jozef ; Lee, Hane ; Levy, Shawn E. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Majcherska, Marta M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; May, Thomas ; McConkie-Rosell, Allyn ; McCray, Alexa T. ; Moretti, Paolo M. ; Novacic, Donna ; Orange, Jordan S. ; Palmer, Christina G.S. ; Potocki, Lorraine ; Pusey, Barbara N. ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Samson, Susan L. ; Schoch, Kelly ; Schroeder, Molly C. ; Shashi, Vandana ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Spillmann, Rebecca C. ; Stong, Nicholas ; Tifft, Cynthia J. ; Tran, Alyssa A. ; Valivullah, Zaheer M. ; Ward, Patricia A. ; Yamamoto, Shinya ; Snyder, Michael ; Merker, Jason D. ; Fisher, Paul G. ; Mayr, Johannes A. ; Morris, Andrew A. ; Schelley, Susan ; Friederich, Marisa W. ; Yamamoto, Shinya ; Wangler, Michael F. ; Taylor, Robert W. ; Bernstein, Jonathan A.

American journal of human genetics, 2018-03, Vol.102 (3), p.494-504 [Periódico revisado por pares]

United States: Elsevier Inc

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10
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Pena, Loren D.M. ; Hempel, Maja ; McLaughlin, Heather M. ; Cho, Megan ; Stong, Nicholas ; Shuss, Christine M. ; Burrage, Lindsay C. ; Dhar, Shweta U. ; Emrick, Lisa T. ; Graham, Brett H. ; Lalani, Seema R. ; Lewis, Richard A. ; Posey, Jennifer E. ; Hanchard, Neil A. ; Mercedes, Alejandro E. ; Wangler, Michael F. ; Muzny, Donna M. ; Ward, Patricia A. ; Ramoni, Rachel B. ; McCray, Alexa T. ; Mazur, Paul ; Splinter, Kimberly ; Esteves, Cecilia ; Jiang, Yong-hui ; Pena, Loren D.M. ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Spillmann, Rebecca C. ; Goldstein, David B. ; Loscalzo, Joseph ; Rodan, Lance H. ; Walsh, Chris A. ; Cooper, Cynthia M. ; Donnell-Fink, Laurel A. ; Krieg, Elizabeth L. ; Lincoln, Sharyn A. ; Worthey, Elizabeth A. ; Lazar, Joe ; Handley, Lori H. ; Newberry, J. Scott ; Schroeder, Molly C. ; Brown, Donna M. ; Levy, Shawn E. ; Dorset, Dan C. ; Jones, Angela L. ; Manolio, Teri A. ; Wise, Anastasia L. ; Eckstein, David J. ; Krasnewich, Donna M. ; Loomis, Carson R. ; Iglesias, Brenda ; Martin, Casey ; Koeller, David M. ; Ashley, Euan A. ; Zornio, Patricia A. ; Nelson, Stan F. ; Palmer, Christina G.S. ; Allard, Patrick ; Dell Angelica, Esteban C. ; Lee, Hane ; Papp, Jeanette C. ; Dorrani, Naghmeh ; Draper, David D. ; Estwick, Tyra ; Gahl, William A. ; Gartner, Valerie ; Godfrey, Rena A. ; Goheen, Mitchell ; Johnston, Jean M. ; Latham, Lea ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Malicdan, May V. ; McCarty, Alexandra J. ; Murphy, Jennifer L. ; Novacic, Donna ; Pusey, Barbara N. ; Sadozai, Sarah ; Schaffer, Katherine E. ; Sharma, Prashant ; Soldatos, Ariane G. ; Tifft, Cynthia J. ; Tolman, Nathanial J. ; Toro, Camilo ; Wahl, Colleen E. ; Weech, Alec A. ; Yu, Guoyun ; Hamid, Rizwan ; Bellet, Jane S. ; Keels, Martha Ann ; El-Dairi, Maysantoine ; Stumpel, Constance T.R.M. ; Klinkenberg, Sylvia ; Oberndorff, Karin ; Petrovski, Slavé ; Kuismin, Outi ; Korpi-Heikkilä, Satu ; Kurki, Mitja I. ; Hoischen, Alexander ; Goldstein, David B.

American journal of human genetics, 2016-10, Vol.99 (4), p.991-999 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Haaften, G
  2. Kariminejad, A
  3. Bakkers, J
  4. Venselaar, H
  5. Ramos, F

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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