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1
Mode of life and habitat of scaphitid ammonites
Mode of life and habitat of scaphitid ammonites
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Mode of life and habitat of scaphitid ammonites

Landman, Neil H. ; Cobban, William A. ; Larson, Neal L.

Geobios, 2012-01, Vol.45 (1), p.87-98 [Periódico revisado por pares]

Paris: Elsevier SAS

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2
Interregional correlation of disconformities in Upper Cretaceous strata, Western Interior Seaway; biostratigraphic and sequence-stratigraphic evidence for eustatic change
Interregional correlation of disconformities in Upper Cretaceous strata, Western Interior Seaway; biostratigraphic and sequence-stratigraphic evidence for eustatic change
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Interregional correlation of disconformities in Upper Cretaceous strata, Western Interior Seaway; biostratigraphic and sequence-stratigraphic evidence for eustatic change

Walaszczyk, Ireneusz ; Shank, Joel A ; Plint, A. Guy ; Cobban, William A

Geological Society of America bulletin, 2014-03, Vol.126 (3-4), p.307-316 [Periódico revisado por pares]

Boulder: Geological Society of America (GSA)

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3
High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases
High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases
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High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

Mueller, Alisa A ; Sasaki, Takanori ; Keegan, Joshua W ; Nguyen, Jennifer P ; Griffith, Alec ; Horisberger, Alice M ; Licata, Thomas ; Fieg, Elizabeth ; Cao, Ye ; Elahee, Mehreen ; Marks, Kathryne E ; Simmons, Daimon P ; Briere, Lauren C ; Cobban, Laurel A ; Pallais, J Carl ; High, Frances A ; Walker, Melissa A ; Linnoila, Jenny J ; Sparks, Jeffrey A ; Holers, V Michael ; Costenbader, Karen H ; Sweetser, David A ; Krier, Joel B ; Loscalzo, Joseph ; Lederer, James A ; Rao, Deepak A

The Journal of clinical investigation, 2023-12, Vol.133 (24), p.1-3 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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4
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Becerril, Alissa ; Larson, Austin ; Zerfas, Patricia M. ; Acosta, Maria T. ; Agrawal, Pankaj ; Alejandro, Mercedes E. ; Andrews, Ashley ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Batzli, Gabriel F. ; Bayrak-Toydemir, Pinar ; Bernstein, Jonathan A. ; Birch, Camille L. ; Bivona, Stephanie ; Bohnsack, John ; Bonnenmann, Carsten ; Bostwick, Bret L. ; Brokamp, Elly ; Burrage, Lindsay C. ; Carey, John ; Clark, Gary D. ; Cope, Heidi ; Dasari, Surendra ; Dayal, Jyoti G. ; Dorset, Daniel C. ; Eng, Christine M. ; Esteves, Cecilia ; Fresard, Laure ; Goldman, Alica M. ; Goldstein, David B. ; Groden, Catherine A. ; Haendel, Melissa ; Hayes, Nichole ; Holm, Ingrid A. ; Jiang, Yong-hui ; Johnston, Jean M. ; Jones, Angela L. ; Kohane, Isaac S. ; Krakow, Deborah ; Krasnewich, Donna M. ; Korrick, Susan ; Krier, Joel B. ; Lalani, Seema R. ; Lam, Byron ; Lazar, Jozef ; Levy, Shawn E. ; Liu, Xue Zhong ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Marom, Ronit ; Martínez-Agosto, Julian A. ; McCormack, Colleen E. ; McCray, Alexa T. ; Might, Matthew ; Morava-Kozicz, Eva ; Murdock, David R. ; Nath, Avi ; Nelson, Stan F. ; Newman, John H. ; Orengo, James P. ; Pace, Laura ; Papp, Jeanette C. ; Parker, Neil H. ; Potocki, Lorraine ; Raja, Archana N. ; Reuter, Chloe M. ; Rives, Lynette ; Rowley, Robb K. ; Sampson, Jacinda B. ; Saporta, Mario ; Schedl, Timothy ; Shields, Kathleen ; Signer, Rebecca ; Sillari, Catherine H. ; Sisco, Kathy ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Stong, Nicholas ; Sullivan, Jennifer A. ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Wahl, Colleen E. ; Wan, Jijun ; Wang, Lee-kai ; Wangler, Michael F. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Zuchner, Stephan ; Day-Salvatore, Debra L. ; Mindell, Joseph A.

American journal of human genetics, 2019-06, Vol.104 (6), p.1127-1138 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Sequence stratigraphy of the Mancos Shale, lower Tres Hermanos Formation, and coeval middle Cenomanian to middle Turonian strata, southern New Mexico, USA
Sequence stratigraphy of the Mancos Shale, lower Tres Hermanos Formation, and coeval middle Cenomanian to middle Turonian strata, southern New Mexico, USA
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Sequence stratigraphy of the Mancos Shale, lower Tres Hermanos Formation, and coeval middle Cenomanian to middle Turonian strata, southern New Mexico, USA

Mack, Greg H. ; Hook, Stephen ; Giles, Katherine A. ; Cobban, William A. Hampson, Gary ; Hampson, Gary

Sedimentology, 2016-06, Vol.63 (4), p.781-808 [Periódico revisado por pares]

Madrid: Blackwell Publishing Ltd

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6
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson, Brett V. ; Alexander, Suzy ; Vega, Michelle Sanchez ; Domingo, Deepti ; Oh, Tracey ; Lines, Matthew ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Billette de Villemeur, Thierry ; Koolen, David A. ; Sa, Joaquim ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Sullivan, Jennifer A. ; Bacino, Carlos A. ; Baker, Eva ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Butte, Manish J. ; Davids, Mariska ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Douine, Emilie D. ; Draper, David D. ; Emrick, Lisa T. ; Esteves, Cecilia ; Estwick, Tyra ; Fernandez, Liliana ; Ferreira, Carlos ; Forghani, Irman ; Friedman, Noah D. ; Gahl, William A. ; Godfrey, Rena A. ; Hanchard, Neil A. ; Jiang, Yong-hui ; Karaviti, Lefkothea ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lanpher, Brendan C. ; LeBlanc, Kimberly ; Lee, Brendan H. ; Liu, Xue Zhong ; Marwaha, Shruti ; McCauley, Jacob ; Morimoto, Marie ; Nath, Avi ; Nelson, Stan F. ; Newman, John H. ; Oglesbee, Devin ; Orengo, James P. ; Pak, Stephen ; Parker, Neil H. ; Phillips, John A. ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Sampson, Jacinda B. ; Schedl, Timothy ; Shakachite, Lisa ; Sharma, Prashant ; Signer, Rebecca ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walsh, Chris A. ; Wang, Lee-kai ; Wangler, Michael F. ; Worthey, Elizabeth A. ; Yu, Guoyun ; Zastrow, Diane B. ; Zhao, Chunli ; Gahl, William ; Sullivan, Jennifer A. ; Barnett, Sarah S. ; Perry, M. Scott ; Schuette, Jane L. ; Smith, Laurie D. ; Rosenfeld, Jill A. ; Bhoj, Elizabeth ; Kaplan, Paige ; Oegema, Renske ; Armstrong, Martin ; Lin, Angela E. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Mosher, Theresa Mihalic ; Tezcan, Kamer ; Penzes, Peter ; Piper, Michael

Biological psychiatry (1969), 2020-01, Vol.87 (2), p.100-112 [Periódico revisado por pares]

United States: Elsevier Inc

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7
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Mao, Dongxue ; Reuter, Chloe M. ; Farrow, Emily G. ; Rosenfeld, Jill A. ; Mackenzie, Katherine M. ; Küry, Sébastien ; Genetti, Casie A. ; Alejandro, Mercedes ; Agrawal, Pankaj B. ; Alvey, Justin ; Ashley, Euan A. ; Balasubramanyam, Ashok ; Beck, Anita ; Bellen, Hugo J. ; Berg-Rood, Beverly ; Bernier, Raphael ; Bivona, Stephanie ; Bohnsack, John ; Briere, Lauren C. ; Burke, Elizabeth A. ; Butte, Manish J. ; Carrasquillo, Olveen ; Cogan, Joy D. ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Craigen, William J. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Dhar, Shweta U. ; Emrick, Lisa T. ; Estwick, Tyra ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Fogel, Brent L. ; Forghani, Irman ; Gahl, William A. ; Godfrey, Rena A. ; Goldman, Alica M. ; Hahn, Sihoun ; Hanchard, Neil A. ; Hing, Anne ; Holm, Ingrid A. ; Huang, Yong ; Jamal, Fariha ; Jayadev, Suman ; Karaviti, Lefkothea ; Kelley, Emily G. ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lam, Byron ; Lanpher, Brendan C. ; Lanza, Ian R. ; Lee, Brendan H. ; Lewis, Richard A. ; Loo, Sandra K. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McCormack, Colleen E. ; Merritt, J. Lawrence ; Moretti, Paolo M. ; Mulvihill, John J. ; Murdock, David R. ; Nickerson, Deborah ; Pallais, J. Carl ; Posey, Jennifer E. ; Potocki, Lorraine ; Raja, Archana N. ; Renteria, Genecee ; Rosenfeld, Jill A. ; Samson, Susan L. ; Schedl, Timothy ; Shakachite, Lisa ; Signer, Rebecca ; Silverman, Edwin K. ; Sybert, Virginia ; Tekin, Mustafa ; Thorson, Willa ; Tran, Alyssa A. ; Urv, Tiina K. ; Wahl, Colleen E. ; Wegner, Daniel ; Wheeler, Matthew T. ; Yamamoto, Shinya ; Yang, John ; Yoon, Amanda J. ; Yu, Guoyun ; Zastrow, Diane B. ; Zhao, Chunli ; Bernstein, Jonathan A. ; Chao, Hsiao-Tuan

American journal of human genetics, 2020-04, Vol.106 (4), p.570-583 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

Rael, Victoria E ; Yano, Julian A ; Huizar, John P ; Slayden, Leianna C ; Weiss, Madeleine A ; Turcotte, Elizabeth A ; Terry, Jacob M ; Zuo, Wenqi ; Thiffault, Isabelle ; Pastinen, Tomi ; Farrow, Emily G ; Jenkins, Janda L ; Becker, Mara L ; Wong, Stephen C ; Stevens, Anne M ; Otten, Catherine ; Allenspach, Eric J ; Bonner, Devon E ; Bernstein, Jonathan A ; Wheeler, Matthew T ; Saxton, Robert A ; Liu, Bo ; Majer, Olivia ; Barton, Gregory M

The Journal of experimental medicine, 2024-08, Vol.221 (8) [Periódico revisado por pares]

United States

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9
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
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Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Tepe, Burak ; Cogne, Benjamin ; Neil, Jennifer E. ; Walsh, Christopher A. ; Magal, Nurit ; Drasinover, Valerie ; Schwab, Tanya ; Schmitz, Chris ; Clark, Karl ; Blanc, Pierre ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Behrens, Edward ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Byers, Peter ; Byrd, William E. ; Carey, John ; Clark, Gary D. ; Coakley, Terra R. ; Colley, Heather A. ; Craigen, William J. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dipple, Katrina ; Doherty, Daniel ; Doss, Argenia L. ; Emrick, Lisa T. ; Fernandez, Liliana ; Forghani, Irman ; Glass, Ian ; Gochuico, Bernadette ; Golden-Grant, Katie ; Goldrich, Madison P. ; Gutierrez, Irma ; Hamid, Rizwan ; Hayes, Nichole ; Hom, Jason ; Horike-Pyne, Martha ; Isasi, Rosario ; Jarvik, Jeffrey ; Jobanputra, Vaidehi ; Karaviti, Lefkothea ; Kiley, Dana ; Kobren, Shilpa N. ; Krasnewich, Donna M. ; LeBlanc, Kimberly ; Levitt, Roy ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Mao, Rong ; Maravilla, Kenneth ; Marom, Ronit ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; Merritt, J. Lawrence ; Morava, Eva ; Newman, John H. ; Nickerson, Deborah ; Novacic, Donna ; Oglesbee, Devin ; Pace, Laura ; Palmer, Christina GS ; Papp, Jeanette C. ; Rao, Deepak A. ; Renteria, Genecee ; Reuter, Chloe M. ; Robertson, Amy K. ; Rosenfeld, Jill A. ; Rossignol, Francis ; Ruzhnikov, Maura ; Scott, C. Ron ; Shin, Jimann ; Sinsheimer, Janet S. ; Sullivan, Jennifer A. ; Sun, Angela ; Tabor, Holly K. ; Telischi, Fred ; Toro, Camilo ; Tucker, Brianna M. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Walker, Melissa ; Wangler, Michael F. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wolfe, Lynne A. ; Worley, Kim ; Xiao, Changrui ; Zuchner, Stephan

American journal of human genetics, 2023-05, Vol.110 (5), p.774-789 [Periódico revisado por pares]

United States: Elsevier Inc

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10
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Michener, Sydney L. ; Chan, Hiuling ; Rosenfeld, Jill A. ; Bekheirnia, Mir Reza ; Wagner, Matias ; Engels, Hartmut ; Guillen Sacoto, Maria J. ; McDonnell, Pamela P. ; Pastinen, Tomi ; Zhou, Dihong ; Bolton, Jeffrey ; Julia Suh, Dong Sun ; Toosi, Mehran Beiraghi ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Russ-Hall, Sophie ; Carvill, Gemma L. ; Mefford, Heather ; Acosta, Maria T. ; Adams, David R. ; Amendola, Laura ; Bademci, Guney ; Balasubramanyam, Ashok ; Beck, Anita ; Bican, Anna ; Blue, Elizabeth ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brown, Gabrielle ; Carey, John ; Crouse, Andrew B. ; Dipple, Katrina ; Doss, Argenia L. ; Douine, Emilie D. ; Eckstein, David J. ; Fieg, Elizabeth L. ; Forghani, Irman ; Godfrey, Rena A. ; Grajewski, Alana ; Hahn, Sihoun ; Hisama, Fuki M. ; Hutchison, Sarah ; Introne, Wendy ; Ketkar, Shamika ; Kiley, Dana ; Kilich, Gonench ; Korrick, Susan ; Kozuira, Mary ; Krakow, Deborah ; Kravets, Elijah ; Lalani, Seema R. ; LeBlanc, Kimberly ; Levitt, Roy ; Lewis, Richard A. ; Loo, Sandra K. ; Mahoney, Rachel ; Mao, Rong ; Maravilla, Kenneth ; Marwaha, Shruti ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Morava, Eva ; Nakano-Okuno, Mariko ; Nelson, Stanley F. ; Phillips III, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Renteria, Genecee ; Reuter, Chloe M. ; Robertson, Amy K. ; Rossignol, Francis ; Ruzhnikov, Maura ; Saporta, Mario ; Seto, Elaine ; Sisco, Kathy ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Tabor, Holly K. ; Tan, Queenie K.-G. ; Tan, Amelia L.M. ; Telischi, Fred ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Ungar, Rachel A. ; Vogel, Tiphanie P. ; Wallace, Stephanie ; Wambach, Jennifer ; Wegner, Daniel ; Wener, Mark ; Wenger, Tara ; Westerfield, Monte ; Worley, Kim ; Xiao, Changrui ; Yang, John ; Chao, Hsiao-Tuan

American journal of human genetics, 2024-01, Vol.111 (1), p.96-118 [Periódico revisado por pares]

United States: Elsevier Inc

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