A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome

por Lino Cardenas, Christian Lacks, Briere, Lauren C., Sweetser, David A., Lindsay, Mark E., Musolino, Patricia L.
Publicado 2023

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

por Jangam, Sharayu, Briere, Lauren C., Jay, Kristy, Andrews, Jonathan C, Walker, Melissa A., Rodan, Lance H., High, Frances A., Yamamoto, Shinya, Sweetser, David A., Wangler, Michael
Publicado 2023

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

por Palmer, Christina G. S., McConkie-Rosell, Allyn, Holm, Ingrid A., LeBlanc, Kimberly, Sinsheimer, Janet S., Briere, Lauren C., Dorrani, Naghmeh, Herzog, Matthew R., Lincoln, Sharyn, Schoch, Kelly, Spillmann, Rebecca C., Brokamp, Elly
Publicado 2018

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

por Pan, Xueyang, Alvarez, Albert N., Ma, Mengqi, Lu, Shenzhao, Crawford, Michael W., Briere, Lauren C., Kanca, Oguz, Yamamoto, Shinya, Sweetser, David A., Wilson, Jenny L., Napier, Ruth J., Pruneda, Jonathan N., Bellen, Hugo J.
Publicado 2023

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen...

por Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Publicado 2020

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

por Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
Publicado 2021

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

por Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.
Publicado 2023

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

por Haghighi, Alireza, Krier, Joel B., Toth-Petroczy, Agnes, Cassa, Christopher A., Frank, Natasha Y., Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C., Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A., Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J., Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B., Pantazi, Angeliki, Chopra, Sameer S., Leshchiner, Ignaty, Stitziel, Nathan O., Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A., Liao, Eric, Stoler, Joan M., Nowak, Catherine B., Sanchez-Lara, Pedro A., Klein, Ophir D., Perry, Hazel, Patsopoulos, Nikolaos A., Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C., Seidman, Christine E., MacRae, Calum A., Sunyaev, Shamil R., Maas, Richard L., Vuzman, Dana
Publicado 2018