전남대학교 중앙도서관

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

학술저널

issue: American Journal of Human Genetics. 100(2)
Author: Schoch, Kelly
Meng, Linyan
Szelinger, Szabolcs
Bearden, David R
Stray-Pedersen, Asbjorg
Busk, Oyvind L
Stong, Nicholas
Liston, Eriskay
Cohn, Ronald D
Scaglia, Fernando
Rosenfeld, Jill A
Tarpinian, Jennifer
Skraban, Cara M
Deardorff, Matthew A
Friedman, Jeremy N
Akdemir, Zeynep Coban
Walley, Nicole
Mikati, Mohamad A
Kranz, Peter G
Jasien, Joan
McConkie-Rosell, Allyn
McDonald, Marie
Wechsler, Stephanie Burns
Freemark, Michael
Kansagra, Sujay
Freedman, Sharon
Bali, Deeksha
Millan, Francisca
Bale, Sherri
Nelson, Stanley F
Lee, Hane
Dorrani, Naghmeh
Goldstein, David B
Xiao, Rui
Yang, Yaping
Posey, Jennifer E
Martinez-Agosto, Julian A
Lupski, James R
Wangler, Michael F
Shashi, Vandana
Grody, Wayne W
Strom, Samuel P
Vilain, Eric
Deignan, Joshua
Quintero-Rivera, Fabiola
Kantarci, Sibel
Mullegama, Sureni
Kang, Sung-Hae
Alejandro, Mercedes E
Bacino, Carlos A
Balasubramanyam, Ashok
Burrage, Lindsay C
Clark, Gary D
Craigen, William J
Dhar, Shweta U
Emrick, Lisa T
Graham, Brett H
Hanchard, Neil A
Jain, Mahim
Lalani, Seema R
Lee, Brendan H
Lewis, Richard A
Mashid, Azamian S
Moretti, Paolo M
Nicholas, Sarah K
Orange, Jordan S
Potocki, Lorraine
Scott, Daryl A
Tran, Alyssa A
Bellen, Hugo J
Yamamoto, Shinya
Eng, Christine M
Muzny, Donna M
Ward, Patricia A
Gropman, Andrea L
Jiang, Yong-hui
Pena, Loren DM
Spillmann, Rebecca C
Sullivan, Jennifer A
Walley, Nicole M
Beggs, Alan H
Briere, Lauren C
Cooper, Cynthia M
Donnell-Fink, Laurel A
Krieg, Elizabeth L
Krier, Joel B
Lincoln, Sharyn A
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

학술저널

issue: Neurology: Genetics. Aug 01, 2018 4(4)
Author: Machol, Keren
Jankovic, Joseph
Vijayakumar, Dhanya
Burrage, Lindsay C.
Jain, Mahim
Lewis, Richard A.
Fuller, Gregory N.
Xu, Mingchu
Penas-Prado, Marta
Gule-Monroe, Maria K.
Rosenfeld, Jill A.
Chen, Rui
Eng, Christine M.
Yang, Yaping
Lee, Brendan H.
Moretti, Paolo M.
Dhar, Shweta U.
Alejandro, Mercedes E.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Goldman, Alica M.
Hanchard, Neil A.
Jamal, Fariha
Karaviti, Lefkothea
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Marom, Ronit
Moretti, Paolo M.
Murdock, David R.
Nicholas, Sarah K.
Orange, Jordan S.
Orengo, James P.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Bellen, Hugo J.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Muzny, Donna M.
Ward, Patricia A.
Yang, Yaping
Goldstein, David B.
Stong, Nicholas
Cope, Heidi
Jiang, Yong-hui
McConkie-Rosell, Allyn
Pena, Loren DM.
Schoch, Kelly
Shashi, Vandana
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Tan, Queenie K.G.
Walley, Nicole M.
Aaron, Aday
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia M.
Donnell-Fink, Laurel A.
High, Francis
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walker, Melissa
Walsh, Chris A.
Esteves, Cecilia
Glanton, Emily
Holm, Ingrid A.
Kohane, Isaac S.
McCray, Alexa T.
Might, Matthew
LeBlanc, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna M.
Dorset, Daniel C.
Handley, Lori H.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
May, Thomas
Newberry, J. Scott
Schroeder, Molly C.
Worthey, Elizabeth A.
Batzli, Gabriel F.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton, Ellen M.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Brush, Matthew
Gourdine, Jean-Philippe F.
Haendel, Melissa
Koeller, David M.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Ashley, Euan A.
Bernstein, Jonathan A.
Bonner, Devon
Coakley, Terra R.
Davidson, Jean M.
Dries, Annika M.
Enns, Gregory M.
Fernandez, Liliana
Fisher, Paul G.
Friedman, Noah D.
Hom, Jason
Huang, Yong
Kohler, Jennefer N.
Majcherska, Marta M.
Marwaha, Shruti
McCormack, Colleen E.
Merker, Jason D.
Reuter, Chloe M.
Sampson, Jacinda B.
Smith, Kevin S.
Waggott, Daryl M.
Wheeler, Matthew T.
Zastrow, Diane B.
Zhao, Chunli
Allard, Patrick
Barseghyan, Hayk
Butte, Manish J.
DellʼAngelica, Esteban C.
Dipple, Katrina M.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Loo, Sandra K.
Martin, Martin G.
Martínez-Agosto, Julian A.
Nelson, Stan F.
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Wan, Jijun
Yoon, Amanda J.
Zheng, Allison
Behnam, Babak
Burke, Elizabeth A.
DʼSouza, Precilla
Davids, Mariska
Draper, David D.
Estwick, Tyra
Ferreira, Carlos
Godfrey, Rena A.
Groden, Catherine A.
Johnston, Jean M.
Lau, C. Christopher
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
Morimoto, Marie
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sharma, Prashant
Toro, Camilo
Valivullah, Zaheer M.
Wahl, Colleen E.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine V.
Tifft, Cynthia J.
Wolfe, Lynne A.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Hamid, Rizwan
Newman, John H.
Phillips, John A., III
Robertson, Amy K.
Cogan, Joy D.
DB Label: Database : Journals@OVID

원문보기: Full Text (LWW - Ovid) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms

학술저널

issue: MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e676 7p.
Author: Cassini, Thomas A.
Duncan, Laura
Rives, Lynette C.
Newman, John H.
Phillips, John A.
Koziura, Mary E.
Brault, Jennifer
Hamid, Rizwan
Cogan, Joy
Adams, Christopher J.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mashid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chao, Katherine R.
Chen, Shan
Clark, Gary D.
Cooper, Cynthia M.
Craigen, William J.
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Estwick, Tyra
Fisher, Paul G.
Frisby, Trevor S.
Frost, Kate
Gahl, William A.
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Goldstein, David B.
Gordon, Mary G.
Gould, Sarah E.
Gourdine, JeanPhilippe F.
Graham, Brett H.
Groden, Catherine A.
Gropman, Andrea L.
Hackbarth, Mary E.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Hardee, Isabel
Herzog, Matthew R.
Holm, Ingrid A.
Howerton, Ellen M.
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Koehler, Alanna E.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Lazar, Jozef
Lee, Brendan H.
Lee, Hane
Lee, Paul R.
Levy, Shawn E.
Levy, Denise J.
Lewis, Richard A.
Liebendorfer, Adam P.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Mazur, Paul
McCarty, Alexandra J.
McConkie-Rosell, Allyn
McCray, Alexa T.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Ramoni, Rachel B.
Rodan, Lance H.
Rosenfeld, Jill A.
Sadozai, Sarah
Samson, Susan L.
Schaffer, Katherine E.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Soldatos, Ariane G.
Spillmann, Rebecca C.
Splinter, Kimberly
Stoler, Joan M.
Stong, Nicholas
Strong, Kimberly A.
Sullivan, Jennifer A.
Sweetser, David A.
Thomas, Sara P.
Tifft, Cynthia J.
Tolman, Nathanial J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Wangler, Michael F.
Warburton, Mike
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Weech, Alec A.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zhang, Jing
Zornio, Patricia A.
Undiagnosed Dis Network
DB Label: Database : Science Citation Index Expanded

원문보기: Open Access (Wiley) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells

학술저널

issue: MOLECULAR GENETICS & GENOMIC MEDICINE; JUN 2019, 7 6, pUNSP e686 8p.
Author: Newman, John H.
Shaver, Aaron
Sheehan, Jonathan H.
Mallal, Simon
Stone, John H.
Pillai, Shiv
Bastarache, Lisa
Riebau, Derek
Allard-Chamard, Hugues
Stone, William M.
Perugino, Cory
Pilkinton, Mark
Smith, Scott A.
McDonnell, Wyatt J.
Capra, John A.
Meiler, Jens
Cogan, Joy
Xing, Kelly
Mahajan, Vinay S.
Mattoo, Hamid
Hamid, Rizwan
Phillips, John A., III
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bernstein, Jonathan A.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hanchard, Neil A.
Handley, Lori H.
Herzog, Matthew R.
High, Francis
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Korrick, Susan
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Orengo, James P.
Pallais, J. Carl
Palme, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe M.
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sullivan, Jennifer A.
Sweetser, David A.
Tan, Queenie K-G
Tiffs, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label: Database : Science Citation Index Expanded

원문보기: Open Access (Wiley) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

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

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; JAN 3 2019, 104 1, p164-p178, 15p.
Author: Machol, Keren
Rousseau, Justine
Ehresmann, Sophie
Garcia, Thomas
Thi Tuyet Mai Nguyen
Spillmann, Rebecca C.
Sullivan, Jennifer A.
Shashi, Vandana
Jiang, Yong-hui
Stong, Nicholas
Fiala, Elise
Willing, Marcia
Pfundt, Rolph
Kleefstra, Tjitske
Cho, Megan T.
McLaughlin, Heather
Rosello Piera, Monica
Orellana, Carmen
Martinez, Francisco
Caro-Llopis, Alfonso
Monfort, Sandra
Roscioli, Tony
Nixon, Cheng Yee
Buckley, Michael F.
Turner, Anne
Jones, Wendy D.
van Hasseit, Peter M.
Hofstede, Floris C.
van Gassen, Koen L., I
Brooks, Alice S.
van Slegtenhorst, Marjon A.
Lachlan, Katherine
Sebastian, Jessica
Madan-Khetarpal, Suneeta
Sonal, Desai
Sakkubai, Naidu
Thevenon, Julien
Faivre, Laurence
Maurel, Alice
Petrovski, Slave
Krantz, Ian D.
Tarpinian, Jennifer M.
Rosenfeld, Jill A.
Lee, Brendan H.
Campeau, Philippe M.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Azamian, Mahshid S.
Bacino, Carlos A.
Balasubramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dillon, Ani
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Ferreira, Carlos
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Goldstein, David B.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
Handley, Lori H.
Herzog, Matthew R.
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jacob, Howard J.
Jain, Mahim
Johnston, Jean M.
Jones, Angela L.
Kohane, Isaac S.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Lalani, Seema R.
Lalani
Lau, C. Christopher
Lazar, Jozef
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Lipson, Allen
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine, V
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe M.
Robertson, Amy K.
Rodan, Lance H.
Sampson, Jacinda B.
Samson, Susan L.
Schoch, Kelly
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Signer, Rebecca
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Splinter, Kimberly
Stoler, Joan M.
Sweetser, David A.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Ward, Patricia A.
Waters, Katrina M.
Westerfield, Monte
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yu, Guoyun
Zastrow, Diane B.
Zheng, Allison
Undiagnosed Dis Network
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

학술저널

issue: GENETICS IN MEDICINE; JAN 2019, 21 1, p161-p172, 12p.
Author: Shashi, Vandana
Schoch, Kelly
Spillmann, Rebecca
Cope, Heidi
Tan, Queenie K. -G.
Walley, Nicole
Pena, Loren
McConkie-Rosell, Allyn
Jiang, Yong-Hui
Stong, Nicholas
Need, Anna C.
Goldstein, David B.
Adams, David R.
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Balasu-bramanyam, Ashok
Barseghyan, Hayk
Batzli, Gabriel F.
Beggs, Alan H.
Behnam, Babak
Bellen, Hugo J.
Bernstein, Jonathan A.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Chen, Shan
Clark, Gary D.
Coakley, Terra R.
Cogan, Joy D.
Cooper, Cynthia M.
Craigen, William J.
D'Souza, Precilla
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dipple, Katrina M.
Donnell-Fink, Laurel A.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Eckstein., David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Eskin, Ascia
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fisher, Paul G.
Fogel, Brent L.
Friedman, Noah D.
Gahl, William A.
Glanton, Emily
Godfrey, Rena A.
Gould, Sarah E.
Gourdine, Jean-Philippe F.
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
Handley, Lori H.
Herzog, Matthew R.
Holm, Ingrid A.
Hom, Jason
Howerton, Ellen M.
Huang, Yong
Jacob, Howard J.
Jain, Mahim
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krasnewich, Donna M.
Krieg, Elizabeth L.
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, G. Martin
Martinez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murphy, Jennifer L.
Muzny, Donna M.
Nehrebecky, Michele E.
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Orange, Jordan S.
Pallais, J. Carl
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Pena, Loren D. M.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Reuter, Chloe M.
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Sampson, Jacinda B.
Samson, Susan L.
Schroeder, Molly C.
Scott, Daryl A.
Sharma, Prashant
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Jennifer A.
Sweetser, David A.
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Valivullah, Zaheer M.
Vilain, Eric
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Wan, Jijun
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, Yaping
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zheng, Allison
Undiagnosed Dis Network
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

학술저널

issue: GENETICS IN MEDICINE; APR 2018, 20 4, p464-p469, 6p.
Author: Pena, Loren D. M.
Jiang, Yong-Hui
Schoch, Kelly
Spillmann, Rebecca C.
Walley, Nicole
Stong, Nicholas
Horn, Sarah Rapisardo
Sullivan, Jennifer A.
McConkie-Rosell, Allyn
Kansagra, Sujay
Smith, Edward C.
El-Dairi, Mays
Bellet, Jane
Keels, Martha Ann
Jasien, Joan
Kranz, Peter G.
Noel, Richard
Nagaraj, Shashi K.
Lark, Robert K.
Wechsler, Daniel S. G.
del Gaudio, Daniela
Leung, Marco L.
Hendon, Laura G.
Parker, Collette C.
Jones, Kelly L.
Goldstein, David B.
Shashi, Vandana
Alejandro, Mercedes E.
Bacino, Carlos A.
Balasubramanyam, Ashok
Bostwick, Bret L.
Burrage, Lindsay C.
Chen, Shan
Clark, Gary D.
Craigen, William J.
Dhar, Shweta U.
Emrick, Lisa T.
Graham, Brett H.
Hanchard, Neil A.
Jain, Mahim
Lalani, Seema R.
Lee, Brendan H.
Lewis, Richard A.
Azamian, Mashid S.
Moretti, Paolo M.
Nicholas, Sarah K.
Orange, Jordan S.
Posey, Jennifer E.
Potocki, Lorraine
Rosenfeld, Jill A.
Samson, Susan L.
Scott, Daryl A.
Tran, Alyssa A.
Vogel, Tiphanie P.
Zhang, Jing
Bellen, Hugo J.
Wangler, Michael F.
Yamamoto, Shinya
Eng, Christine M.
Muzny, Donna M.
Ward, Patricia A.
Yang, Yaping
Walley, Nicole M.
Beggs, Alan H.
Briere, Lauren C.
Cooper, Cynthia M.
Donnell-Fink, Laurel A.
Krieg, Elizabeth L.
Krier, Joel B.
Lincoln, Sharyn A.
Loscalzo, Joseph
Maas, Richard L.
MacRae, Calum A.
Pallais, J. Carl
Rodan, Lance H.
Silverman, Edwin K.
Stoler, Joan M.
Sweetser, David A.
Walsh, Chris A.
Esteves, Cecilia
Holm, Ingrid A.
Kohane, Isaac S.
Mazur, Paul
McCray, Alexa T.
Might, Matthew
Ramoni, Rachel B.
Splinter, Kimberly
Bick, David P.
Birch, Camille L.
Boone, Braden E.
Brown, Donna M.
Dorset, Daniel C.
Handley, Lori H.
Jacob, Howard J.
Jones, Angela L.
Lazar, Jozef
Levy, Shawn E.
Newberry, J. Scott
Schroeder, Molly C.
Strong, Kimberly A.
Worthey, Elizabeth A.
Dayal, Jyoti G.
Eckstein, David J.
Gould, Sarah E.
Howerton, Ellen M.
Krasnewich, Donna M.
Mamounas, Laura A.
Manolio, Teri A.
Mulvihill, John J.
Urv, Tiina K.
Wise, Anastasia L.
Soldatos, Ariane G.
Brush, Matthew
Gourdine, Jean-Philippe F.
Haendel, Melissa
Koeller, David M.
Kyle, Jennifer E.
Metz, Thomas O.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Ashley, Euan A.
Bernstein, Jonathan A.
Dries, Annika M.
Fisher, Paul G.
Kohler, Jennefer N.
Waggott, Daryl M.
Wheeler, Matthew T.
Zornio, Patricia A.
Allard, Patrick
Barseghyan, Hayk
Dell'Angelica, Esteban C.
Dillon, Ani
Dipple, Katrina M.
Dorrani, Naghmeh
Douine, Emilie D.
Eskin, Ascia
Fogel, Brent L.
Herzog, Matthew R.
Lee, Hane
Lipson, Allen
Loo, Sandra K.
Martinez-Agosto, Julian A.
Nelson, Stan F.
Palmer, Christina G. S.
Papp, Jeanette C.
Parker, Neil H.
Sinsheimer, Janet S.
Vilain, Eric
Zheng, Allison
Adams, Christopher J.
Burke, Elizabeth A.
Chao, Katherine R.
Davids, Mariska
Draper, David D.
Estwick, Tyra
Frisby, Trevor S.
Frost, Kate
Gartner, Valerie
Godfrey, Rena A.
Goheen, Mitchell
Golas, Gretchen A.
Gordon, Mary G.
Groden, Catherine A.
Hackbarth, Mary E.
Hardee, Isabel
Johnston, Jean M.
Koehler, Alanna E.
Latham, Lea
Latour, Yvonne L.
Lau, C. Christopher
Levy, Denise J.
Liebendorfer, Adam P.
Macnamara, Ellen F.
Maduro, Valerie V.
Markello, Thomas C.
McCarty, Alexandra J.
Murphy, Jennifer L.
Nehrebecky, Michele E.
Novacic, Donna
Pusey, Barbara N.
Sadozai, Sarah
Schaffer, Katherine E.
Sharma, Prashant
Thomas, Sara P.
Tolman, Nathanial J.
Toro, Camilo
Valivullah, Zaheer M.
Wahl, Colleen E.
Warburton, Mike
Weech, Alec A.
Yu, Guoyun
Gropman, Andrea L.
Adams, David R.
Gahl, William A.
Malicdan, May Christine, V
Tifft, Cynthia J.
Wolfe, Lynne A.
Lee, Paul R.
Postlethwait, John H.
Westerfield, Monte
Bican, Anna
Cogan, Joy D.
Hamid, Rizwan
Newman, John H.
Phillips, John A., III
Robertson, Amy K.
Undiagnosed Dis Network Members
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

바구니보기

링크메뉴

주메뉴

전자자료 상세검색

전자자료 상세검색

전체선택