Exome/Genome Sequencing in Undiagnosed Syndromes

por Sullivan, Jennifer A., Schoch, Kelly, Spillmann, Rebecca C., Shashi, Vandana
Publicado 2023

Clinical application of exome sequencing in undiagnosed genetic conditions

por Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Publicado 2012

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

por Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E., Smith, Edward C., Tan, Queenie K.-G., Shashi, Vandana
Publicado 2023

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

por Spillmann, Rebecca C., McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R., Shashi, Vandana
Publicado 2017

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

por Shashi, Vandana, Petrovski, Slavé, Schoch, Kelly, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Publicado 2015

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

por Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana
Publicado 2020

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

por Cope, Heidi, Barseghyan, Hayk, Bhattacharya, Surajit, Fu, Yulong, Hoppman, Nicole, Marcou, Cherisse, Walley, Nicole, Rehder, Catherine, Deak, Kristen, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Phillips, John A.
Publicado 2021

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

por 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.
Publicado 2018

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

por Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A.
Publicado 2020

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

por Petrovski, Slavé, Shashi, Vandana, Petrou, Steven, Schoch, Kelly, McSweeney, Keisha Melodi, Dhindsa, Ryan S., Krueger, Brian, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Publicado 2015

Characteristics of undiagnosed diseases network applicants: implications for referring providers

por Walley, Nicole M., Pena, Loren D. M., Hooper, Stephen R., Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C., Strong, Kimberly, McCray, Alexa T., Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L., Shashi, Vandana
Publicado 2018

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado 2018

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

por Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Kelley, Emily G., Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana
Publicado 2020

A Copy Number Variation Morbidity Map of Developmental Delay

por Cooper, Gregory M., Coe, Bradley P., Girirajan, Santhosh, Rosenfeld, Jill A., Vu, Tiffany, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Patricia, McCracken, Elizabeth, Niyazov, Dmitriy, Leppig, Kathleen, Thiese, Heidi, Hummel, Marybeth, Alexander, Nora, Gorski, Jerome, Kussmann, Jennifer, Shashi, Vandana, Johnson, Krys, Rehder, Catherine, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.
Publicado 2011

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

por Niarchou, Maria, Chawner, Samuel J.R.A., Fiksinski, Ania, Vorstman, Jacob A.S., Maeder, Johanna, Schneider, Maude, Eliez, Stephan, Armando, Marco, Pontillo, Maria, Vicari, Stefano, McDonald-McGinn, Donna M., Emanuel, Beverly S., Zackai, Elaine H., Bearden, Carrie E., Shashi, Vandana, Hooper, Stephen R., Owen, Michael J., Gur, Raquel E., Wray, Naomi R., van den Bree, Marianne B.M., Thapar, Anita
Publicado 2019

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

por Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, van der Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola
Publicado 2021

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

por Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Publicado 2015

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

por Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana
Publicado 2020

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

por Pena, Loren DM, 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, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
Publicado 2017

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

por Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.
Publicado 2021