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Reference EntriesFull Text
Benke, Paul J
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: BAY-BUP, 2022, p.882-882
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Benke, Paul J
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: BEA-BUD, 2021, p.875-875
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ArticlesPeer ReviewedFull Text
Reanalysis of Clinical Exome Sequencing Data
Author / Creator:Liu, Pengfei ; Meng, Linyan ; Normand, Elizabeth A ; Xia, Fan ; Song, Xiaofei ; Ghazi, Andrew ; Rosenfeld, Jill ; Magoulas, Pilar L ; Braxton, Alicia ; Ward, Patricia ; Dai, Hongzheng ; Yuan, Bo ; Bi, Weimin ; Xiao, Rui ; Wang, Xia ; Chiang, Theodore ; Vetrini, Francesco ; He, Weimin ; Cheng, Hanyin ; Dong, Jie ; Gijavanekar, Charul ; Benke, Paul J ; Bernstein, Jonathan A ; Eble, Tanya ; Eroglu, Yasemen ; Erwin, Deanna ; Escobar, Luis ; Gibson, James B ; Gripp, Karen ; Kleppe, Soledad ; Koenig, Mary K ; Lewis, Andrea M ; Natowicz, Marvin ; Mancias, Pedro ; Minor, LaKeesha ; Scaglia, Fernando ; Schaaf, Christian P ; Streff, Haley ; Vernon, Hilary ; Uhles, Crescenda L ; Zackai, Elaine H ; Wu, Nan ; Sutton, V. Reid ; Beaudet, Arthur L ; Muzny, Donna ; Gibbs, Richard A ; Posey, Jennifer E ; Lalani, Seema ; Shaw, Chad ; Eng, Christine M ; Lupski, James R ; Yang, Yaping
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480
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ArticlesPeer ReviewedFull Text
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
Author / Creator:Subramanian, Veedamali S. ; Constantinescu, Alexandru R. ; Benke, Paul J. ; Said, Hamid M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-02, Vol.136 (2), p.253-261
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ArticlesPeer ReviewedFull Text
Analyses of oligodontia phenotypes and genetic etiologies
Author / Creator:Zhou, Mengqi ; Zhang, Hong ; Camhi, Heather ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Kim, Jung-Wook ; Kim-Berman, Hera ; Yuson, Ninna M. R. ; Benke, Paul J. ; Wu, Yiqun ; Wang, Feng ; Zhu, Yaqin ; Simmer, James P. ; Hu, Jan C-C.
Publisher:London: Nature Publishing Group UK
Journal title:International journal of oral science, 2021-09, Vol.13 (1), p.32-32, Article 32
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ArticlesPeer ReviewedFull Text
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
Author / Creator:Pilarowski, Genay O ; Vernon, Hilary J ; Applegate, Carolyn D ; Boukas, Leandros ; Cho, Megan T ; Gurnett, Christina A ; Benke, Paul J ; Beaver, Erin ; Heeley, Jennifer M ; Medne, Livija ; Krantz, Ian D ; Azage, Meron ; Niyazov, Dmitriy ; Henderson, Lindsay B ; Wentzensen, Ingrid M ; Baskin, Berivan ; Sacoto, Maria J Guillen ; Bowman, Gregory D ; Bjornsson, Hans T
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-08, Vol.55 (8), p.561-566
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ArticlesPeer ReviewedFull Text
Correction: Analyses of oligodontia phenotypes and genetic etiologies
Author / Creator:Zhou, Mengqi ; Zhang, Hong ; Camhi, Heather ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Kim, Jung-Wook ; Kim-Berman, Hera ; Yuson, Ninna M. R. ; Benke, Paul J. ; Wu, Yiqun ; Wang, Feng ; Zhu, Yaqin ; Simmer, James P. ; Hu, Jan C-C.
Publisher:London: Nature Publishing Group UK
Journal title:International journal of oral science, 2021-11, Vol.13 (1), p.35-35, Article 35
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ArticlesPeer ReviewedFull Text
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype
Author / Creator:Collins, Stephen C. ; Coffee, Brad ; Benke, Paul J. ; Berry-Kravis, Elizabeth ; Gilbert, Fred ; Oostra, Ben ; Halley, Dicky ; Zwick, Michael E. ; Cutler, David J. ; Warren, Stephen T.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-03, Vol.5 (3), p.e9476-e9476
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ArticlesPeer ReviewedFull Text
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
Author / Creator:Yang, Jie ; Wang, Shih‐Kai ; Choi, Murim ; Reid, Bryan M. ; Hu, Yuanyuan ; Lee, Yuan‐Ling ; Herzog, Curtis R. ; Kim‐Berman, Hera ; Lee, Moses ; Benke, Paul J. ; Kent Lloyd, K. C. ; Simmer, James P. ; Hu, Jan C.‐C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2015-01, Vol.3 (1), p.40-58
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ArticlesPeer ReviewedFull Text
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
Author / Creator:Su, Meng ; Benke, Paul J. ; Bademci, Guney ; Cengiz, Filiz Basak ; Ouyang, Xiaomei ; Peng, Jinghong ; Casas, Carmen E. ; Tekin, Mustafa ; Fan, Yao-Shan
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2018-08, Vol.11 (1), p.43-6, Article 43
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ArticlesPeer ReviewedFull Text
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Author / Creator:Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna ; Palafox, Maria F. ; Wei, Angela ; Elliott, Kathryn ; Goodloe, Dana H. ; Dean, S. Joy ; Gooch, Catherine ; Murray, Brianna K. ; Swartz, Erin ; Schrier Vergano, Samantha A. ; Towne, Meghan C. ; Nugent, Kimberly ; Roeder, Elizabeth R. ; Kresge, Christina ; Pletcher, Beth A. ; Grand, Katheryn ; Graham, John M. ; Gates, Ryan ; Gomez‐Ospina, Natalia ; Ramanathan, Subhadra ; Clark, Robin Dawn ; Glaser, Kimberly ; Benke, Paul J. ; Cohen, Julie S. ; Fatemi, Ali ; Mu, Weiyi ; Baranano, Kristin W. ; Madden, Jill A. ; Gubbels, Cynthia S. ; Yu, Timothy W. ; Agrawal, Pankaj B. ; Chambers, Mary‐Kathryn ; Phornphutkul, Chanika ; Pugh, John A. ; Tauber, Kate A. ; Azova, Svetlana ; Smith, Jessica R. ; O’Donnell‐Luria, Anne ; Medsker, Hannah ; Srivastava, Siddharth ; Krakow, Deborah ; Schweitzer, Daniela N. ; Arboleda, Valerie A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1809-n/a
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ArticlesPeer ReviewedFull Text
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
Author / Creator:Bomar, Jamee M ; Benke, Paul J ; Slattery, Eric L ; Puttagunta, Radhika ; Taylor, Larry P ; Seong, Eunju ; Nystuen, Arne ; Chen, Weidong ; Albin, Roger L ; Patel, Paresh D ; Kittles, Rick A ; Sheffield, Val C ; Burmeister, Margit
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2003-11, Vol.35 (3), p.264-269
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Newspaper ArticlesFull Text
THE BIG WORLD OF LITTLE ELIZABETH: SUN-SENTINEL Edition
Author / Creator:Deneen, Sally
Publisher:Fort Lauderdale: Tribune Publishing Company, LLC
Journal title:Sun-sentinel (Fort Lauderdale, Fla.), 1989-02-05
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ArticlesPeer ReviewedFull Text
Retinoic Acid Embryopathy
Author / Creator:Lammer, Edward J ; Chen, Diane T ; Hoar, Richard M ; Agnish, Narsingh D ; Benke, Paul J ; Braun, John T ; Curry, Cynthia J ; Fernhoff, Paul M ; Grix, Art W ; Lott, Ira T ; Richard, James M ; Sun, Shyan C
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1985-10, Vol.313 (14), p.837-841
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ArticlesPeer ReviewedFull Text
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
Author / Creator:Fan, Yao-Shan ; Jayakar, Parul ; Zhu, Hongbo ; Barbouth, Deborah ; Sacharow, Stephanie ; Morales, Ana ; Carver, Virginia ; Benke, Paul ; Mundy, Peter ; Elsas, Louis J
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-11, Vol.28 (11), p.1124-1132
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ArticlesPeer ReviewedFull Text
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Author / Creator:Mannucci, Ilaria ; Dang, Nghi D. P. ; Huber, Hannes ; Murry, Jaclyn B. ; Abramson, Jeff ; Althoff, Thorsten ; Banka, Siddharth ; Baynam, Gareth ; Bearden, David ; Beleza-Meireles, Ana ; Benke, Paul J. ; Berland, Siren ; Bierhals, Tatjana ; Bilan, Frederic ; Bindoff, Laurence A. ; Braathen, Geir Julius ; Busk, Øyvind L. ; Chenbhanich, Jirat ; Denecke, Jonas ; Escobar, Luis F. ; Estes, Caroline ; Fleischer, Julie ; Groepper, Daniel ; Haaxma, Charlotte A. ; Hempel, Maja ; Holler-Managan, Yolanda ; Houge, Gunnar ; Jackson, Adam ; Kellogg, Laura ; Keren, Boris ; Kiraly-Borri, Catherine ; Kraus, Cornelia ; Kubisch, Christian ; Le Guyader, Gwenael ; Ljungblad, Ulf W. ; Brenman, Leslie Manace ; Martinez-Agosto, Julian A. ; Might, Matthew ; Miller, David T. ; Minks, Kelly Q. ; Moghaddam, Billur ; Nava, Caroline ; Nelson, Stanley F. ; Parant, John M. ; Prescott, Trine ; Rajabi, Farrah ; Randrianaivo, Hanitra ; Reiter, Simone F. ; Schuurs-Hoeijmakers, Janneke ; Shieh, Perry B. ; Slavotinek, Anne ; Smithson, Sarah ; Stegmann, Alexander P. A. ; Tomczak, Kinga ; Tveten, Kristian ; Wang, Jun ; Whitlock, Jordan H. ; Zweier, Christiane ; McWalter, Kirsty ; Juusola, Jane ; Quintero-Rivera, Fabiola ; Fischer, Utz ; Yeo, Nan Cher ; Kreienkamp, Hans-Jürgen ; Lessel, Davor
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2021-05, Vol.13 (1), p.90-19, Article 90
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ArticlesPeer ReviewedFull Text
The Cerebrohepatorenal (Zellweger) Syndrome: Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis
Author / Creator:Moser, Ann E ; Moser, Hugo W ; Singh, Inderjit ; Brown, Frank R ; Solish, George I ; Kelley, Richard I ; Benke, Paul J
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1984-05, Vol.310 (18), p.1141-1146
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ArticlesPeer ReviewedFull Text
Is potroom asthma due more to sulphur dioxide than fluoride? An inception cohort study in the Australian aluminium industry
Author / Creator:Abramson, Michael John ; Benke, Geza Paul ; Cui, Jisheng ; de Klerk, Nicholas Hubert ; Del Monaco, Anthony ; Dennekamp, Martine ; Fritschi, Lin ; Musk, Arthur William ; Sim, Malcolm Ross
Publisher:London: BMJ Publishing Group Ltd
Journal title:Occupational and environmental medicine (London, England), 2010-10, Vol.67 (10), p.679-685
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ArticlesFull Text
A tutorial on test equipment and methods
Author / Creator:Benke, Paul ; Brody, Michaela
Publisher:San Francisco: Printed Circuit Engineering Association, Inc
Journal title:Printed Circuit Fabrication, 2002-03, Vol.25 (3), p.70-73
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ReportsFull Text
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
Author / Creator:Su, Meng ; Benke, Paul J ; Bademci, Guney ; Cengiz, Filiz Basak ; Ouyang, Xiaomei ; Peng, Jinghong ; Casas, Carmen E ; Tekin, Mustafa ; Fan, Yao-Shan
Journal title:Molecular cytogenetics, 2018, Vol.11, p.43-43
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Benke, Paul J

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Benke, Paul J

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Reanalysis of Clinical Exome Sequencing Data

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Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child

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Analyses of oligodontia phenotypes and genetic etiologies

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

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Correction: Analyses of oligodontia phenotypes and genetic etiologies

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Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

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Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

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Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse

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THE BIG WORLD OF LITTLE ELIZABETH: SUN-SENTINEL Edition

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Retinoic Acid Embryopathy

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Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

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The Cerebrohepatorenal (Zellweger) Syndrome: Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis

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Is potroom asthma due more to sulphur dioxide than fluoride? An inception cohort study in the Australian aluminium industry

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A tutorial on test equipment and methods

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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

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