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Finding commonalities in rare diseases through the undiagnosed diseases network.
Published in:
2021
By:
- Yates, Josephine;
- Gutiérrez-Sacristán, Alba;
- Jouhet, Vianney;
- LeBlanc, Kimberly;
- Esteves, Cecilia;
- Network, Undiagnosed Diseases;
- DeSain, Thomas N;
- Benik, Nick;
- Stedman, Jason;
- Palmer, Nathan;
- Mellon, Guillaume;
- Kohane, Isaac;
- Avillach, Paul;
- Undiagnosed Diseases Network
Publication type:
journal article
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1087, doi. 10.1007/s10897-018-0228-6
By:
- 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;
- Undiagnosed Diseases Network
Publication type:
Article
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 935, doi. 10.1007/s10897-017-0193-5
By:
- Mcconkie-Rosell, Allyn;
- Hooper, Stephen R.;
- Pena, Loren D. M.;
- Schoch, Kelly;
- Spillmann, Rebecca C.;
- Jiang, Yong-Hui;
- Cope, Heidi;
- Undiagnosed Diseases Network;
- Palmer, Christina;
- Shashi, Vandana
Publication type:
Article
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.
Published in:
2017
By:
- Spillmann, Rebecca C.;
- McConkie-Rosell, Allyn;
- Pena, Loren;
- Yong-Hui Jiang;
- Schoch, Kelly;
- Walley, Nicole;
- Sanders, Camilla;
- Sullivan, Jennifer;
- Hooper, Stephen R.;
- Shashi, Vandana;
- Jiang, Yong-Hui;
- Undiagnosed Diseases Network
Publication type:
journal article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
By:
- AlAbdi, Lama;
- Desbois, Muriel;
- Rusnac, Domniţa-Valeria;
- Sulaiman, Raashda A;
- Rosenfeld, Jill A;
- Lalani, Seema;
- Murdock, David R;
- Burrage, Lindsay C;
- Network, Undiagnosed Diseases;
- Au, Ping Yee Billie;
- Towner, Shelley;
- Wilson, William G;
- Wong, Lawrence;
- Brunet, Theresa;
- Strobl-Wildemann, Gertrud;
- Burton, Jennifer E;
- Hoganson, George;
- McWalter, Kirsty;
- Begtrup, Amber;
- Zarate, Yuri A
Publication type:
Article
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Published in:
Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y
By:
- Kyle, Jennifer E.;
- Stratton, Kelly G.;
- Zink, Erika M.;
- Kim, Young-Mo;
- Bloodsworth, Kent J.;
- Monroe, Matthew E.;
- Undiagnosed Diseases Network;
- Bacino, Carlos A.;
- Hanchard, Neil A.;
- Lewis, Richard A.;
- Rosenfeld, Jill A.;
- Scott, Daryl A.;
- Tran, Alyssa A.;
- Ward, Patricia A.;
- Burrage, Lindsay C.;
- Clark, Gary D.;
- Alejandro, Mercedes E.;
- Posey, Jennifer E.;
- Wangler, Michael F.;
- Lee, Brendan H.
Publication type:
Article
A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 3, p. 399, doi. 10.3390/metabo13030399
By:
- DeBalsi, Karen L.;
- Newman, John H.;
- Sommerville, Laura J.;
- Phillips III, John A.;
- Hamid, Rizwan;
- Cogan, Joy;
- Fessel, Joshua P.;
- Evans, Anne M.;
- Network, Undiagnosed Diseases;
- Kennedy, Adam D.
Publication type:
Article
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1175, doi. 10.1002/ajmg.a.38493
By:
- Cassini, Thomas A.;
- Robertson, Amy K.;
- Bican, Anna G.;
- Cogan, Joy D.;
- Hannig, Vickie L.;
- Newman, John H.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- the Undiagnosed Diseases Network
Publication type:
Article
Genomics in medicine: a novel elective rotation for internal medicine residents.
Published in:
2019
By:
- Geng, Linda N.;
- Kohler, Jennefer N.;
- Levonian, Peter;
- Bernstein, Jonathan A.;
- Ford, James M.;
- Ahuja, Neera;
- Witteles, Ronald;
- Hom, Jason;
- Wheeler, Matthew;
- Members of the Undiagnosed Diseases Network
Publication type:
Letter
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00343-8
By:
- Morimoto, Marie;
- Bhambhani, Vikas;
- Gazzaz, Nour;
- Davids, Mariska;
- Sathiyaseelan, Paalini;
- Macnamara, Ellen F.;
- Lange, Jennifer;
- Lehman, Anna;
- Zerfas, Patricia M.;
- Murphy, Jennifer L.;
- Acosta, Maria T.;
- Wang, Camille;
- Alderman, Emily;
- Undiagnosed Diseases Network;
- Adam, Margaret;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Article
Participation in a national diagnostic research study: assessing the patient experience.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02695-5
By:
- Rosenfeld, Lindsay E.;
- LeBlanc, Kimberly;
- Nagy, Anna;
- Ego, Braeden K.;
- The Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim;
- Bamshad, Michael;
- Barbouth, Deborah
Publication type:
Article
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Published in:
BMC Bioinformatics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12859-019-3026-8
By:
- Holt, James M.;
- Wilk, Brandon;
- Birch, Camille L.;
- Brown, Donna M.;
- Gajapathy, Manavalan;
- Moss, Alexander C.;
- Sosonkina, Nadiya;
- Wilk, Melissa A.;
- Anderson, Julie A.;
- Harris, Jeremy M.;
- Kelly, Jacob M.;
- Shaterferdosian, Fariba;
- Uno-Antonison, Angelina E.;
- Weborg, Arthur;
- Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.
Publication type:
Article
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
Published in:
2021
By:
- LeBlanc, Kimberly;
- Kelley, Emily G.;
- Nagy, Anna;
- Bater, Jorick;
- Berro, Tala;
- McGuinness, Molly A.;
- Studwell, Courtney;
- Might, Matthew;
- Undiagnosed Diseases Network
Publication type:
journal article
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Published in:
2021
By:
- Baldridge, Dustin;
- Wangler, Michael F.;
- Bowman, Angela N.;
- Yamamoto, Shinya;
- Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Bale, Jim
Publication type:
journal article
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 1, p. 46, doi. 10.1093/hmg/ddac173
By:
- Fazal, Sarah;
- Danzi, Matt C;
- Kuilenburg, André B P van;
- Reich, Selina;
- Traschütz, Andreas;
- Bender, Benjamin;
- Leen, René;
- Toro, Camilo;
- Usdin, Karen;
- Hayward, Bruce;
- Adams, David R;
- Karnebeek, Clara D M van;
- Ferreira, Carlos R;
- D'Sousa, Precilla;
- Network, Undiagnosed Diseases;
- Tekin, Mustafa;
- Züchner, Stephan;
- Synofzik, Matthis
Publication type:
Article
microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 17, p. 2934, doi. 10.1093/hmg/ddac085
By:
- Barish, Scott;
- Senturk, Mumine;
- Schoch, Kelly;
- Minogue, Amanda L;
- Lopergolo, Diego;
- Fallerini, Chiara;
- Harland, Jake;
- Seemann, Jacob H;
- Stong, Nicholas;
- Kranz, Peter G;
- Kansagra, Sujay;
- Mikati, Mohamad A;
- Jasien, Joan;
- El-Dairi, Mays;
- Galluzzi, Paolo;
- Network, Undiagnosed Diseases;
- Ariani, Francesca;
- Renieri, Alessandra;
- Mari, Francesca;
- Wangler, Michael F
Publication type:
Article
RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046
By:
- Fortugno, Paola;
- Monetta, Rosanna;
- Belli, Manuel;
- Botti, Elisabetta;
- Angelucci, Francesco;
- Palmerini, Maria Grazia;
- Nottola, Stefania Annarita;
- Luca, Chiara De;
- Ceccarini, Marina;
- Salvatore, Marco;
- Bianchi, Luca;
- Macioce, Pompeo;
- Teson, Massimo;
- Ricci, Francesco;
- Network, Italian Undiagnosed Diseases;
- Macchiarelli, Guido;
- Didona, Biagio;
- Costanzo, Antonio;
- Castiglia, Daniele;
- Brancati, Francesco
Publication type:
Article
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 14, p. 1283, doi. 10.1093/hmg/ddab110
By:
- Luo, Xi;
- Schoch, Kelly;
- Jangam, Sharayu V;
- Bhavana, Venkata Hemanjani;
- Graves, Hillary K;
- Kansagra, Sujay;
- Jasien, Joan M;
- Stong, Nicholas;
- Keren, Boris;
- Mignot, Cyril;
- Ravelli, Claudia;
- Network, Undiagnosed Diseases;
- Bellen, Hugo J;
- Wangler, Michael F;
- Shashi, Vandana;
- Yamamoto, Shinya
Publication type:
Article
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 9, p. 1568, doi. 10.1093/hmg/ddaa081
By:
- Dutta, Debdeep;
- Briere, Lauren C;
- Kanca, Oguz;
- Marcogliese, Paul C;
- Walker, Melissa A;
- High, Frances A;
- Vanderver, Adeline;
- Krier, Joel;
- Carmichael, Nikkola;
- Callahan, Christine;
- Taft, Ryan J;
- Simons, Cas;
- Helman, Guy;
- Network, Undiagnosed Diseases;
- Wangler, Michael F;
- Yamamoto, Shinya;
- Sweetser, David A;
- Bellen, Hugo J
Publication type:
Article
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.
Published in:
2019
By:
- Hom, Jason;
- Marwaha, Shruti;
- Postolova, Anna;
- Kittle, Jessie;
- Vasquez, Rosaline;
- Davidson, Jean;
- Kohler, Jennefer;
- Dries, Annika;
- Fernandez-Betancourt, Liliana;
- Majcherska, Marta;
- Dearlove, Joanna;
- Raghavan, Shyam;
- Vogel, Hannes;
- Bernstein, Jonathan A.;
- Fisher, Paul;
- Ashley, Euan;
- Sampson, Jacinda;
- Wheeler, Matthew;
- Undiagnosed Diseases Network
Publication type:
journal article
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Published in:
Genetics, 2021, v. 217, n. 2, p. 1, doi. 10.1093/genetics/iyaa030
By:
- Yan, Yi-Lin;
- Titus, Tom;
- Desvignes, Thomas;
- BreMiller, Ruth;
- Batzel, Peter;
- Sydes, Jason;
- Farnsworth, Dylan;
- Dillon, Danielle;
- Wegner, Jeremy;
- Phillips, Jennifer B.;
- Peirce, Judy;
- Dowd, John;
- Network, Undiagnosed Diseases;
- Buck, Charles Loren;
- Miller, Adam;
- Westerfield, Monte;
- Postlethwait, John H.
Publication type:
Article
Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network.
Published in:
CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 28, doi. 10.1111/cts.12512
By:
- Splinter, Kimberly;
- Hull, Sara Chandros;
- Holm, Ingrid A.;
- McDonough, Tara L.;
- Wise, Anastasia L.;
- Ramoni, Rachel B.;
- Members of the Undiagnosed Diseases Network
Publication type:
Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
By:
- Jordan, Valerie K.;
- Fregeau, Brieana;
- Ge, Xiaoyan;
- Giordano, Jessica;
- Wapner, Ronald J.;
- Balci, Tugce B.;
- Carter, Melissa T.;
- Bernat, John A.;
- Moccia, Amanda N.;
- Srivastava, Anshika;
- Martin, Donna M.;
- Bielas, Stephanie L.;
- Pappas, John;
- Svoboda, Melissa D.;
- Rio, Marlène;
- Boddaert, Nathalie;
- Cantagrel, Vincent;
- Lewis, Andrea M.;
- Scaglia, Fernando;
- Undiagnosed Diseases Network
Publication type:
Article
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Published in:
2018
By:
- 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;
- Undiagnosed Diseases Network;
- Wise, Anastasia L;
- Shashi, Vandana
Publication type:
journal article

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