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Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.
Published in:
Pediatric Pulmonology, 2022, v. 57, n. 1, p. 224, doi. 10.1002/ppul.25681
By:
- Burrage, Lindsay C.;
- Heinle, Jeffrey S.;
- Cerfolio, Robert H.;
- Guillerman, Robert P.;
- Patel, Kalyani R.;
- Santiago, Nahir C.;
- Hoover, Wynton C.;
- Mallory, George B.
Publication type:
Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
By:
- Thistlethwaite, Lillian R.;
- Li, Xiqi;
- Burrage, Lindsay C.;
- Riehle, Kevin;
- Hacia, Joseph G.;
- Braverman, Nancy;
- Wangler, Michael F.;
- Miller, Marcus J.;
- Elsea, Sarah H.;
- Milosavljevic, Aleksandar
Publication type:
Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
By:
- Thistlethwaite, Lillian R.;
- Li, Xiqi;
- Burrage, Lindsay C.;
- Riehle, Kevin;
- Hacia, Joseph G.;
- Braverman, Nancy;
- Wangler, Michael F.;
- Miller, Marcus J.;
- Elsea, Sarah H.;
- Milosavljevic, Aleksandar
Publication type:
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
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2443
By:
- Sen, Kuntal;
- Izem, Rima;
- Long, Yuelin;
- Jiang, Jiji;
- Konczal, Laura L.;
- McCarter, Robert J.;
- Mew, Nicholas Ah;
- Baumgartner, Matthias R.;
- Berry, Gerard;
- Berry, Susan A.;
- Burgard, Peter;
- Burrage, Lindsay C.;
- Cederbaum, Stephen;
- Coughlin, Curtis;
- Diaz, George A.;
- Enns, Gregory;
- Gallagher, Renata C.;
- Harding, Cary O.;
- Hoffmann, Georg F.;
- Le Mons, Cynthia
Publication type:
Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
By:
- 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
Publication type:
Article
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
By:
- Royer-Bertrand, Beryl;
- Jequier Gygax, Marine;
- Cisarova, Katarina;
- Rosenfeld, Jill A.;
- Bassetti, Jennifer A.;
- Moldovan, Oana;
- O'Heir, Emily;
- Burrage, Lindsay C.;
- Allen, Jake;
- Emrick, Lisa T.;
- Eastman, Emma;
- Kumps, Camille;
- Abbas, Safdar;
- Van Winckel, Geraldine;
- Chabane, Nadia;
- Zackai, Elaine H.;
- Lebon, Sebastien;
- Keena, Beth;
- Bhoj, Elizabeth J.;
- Umair, Muhammad
Publication type:
Article
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
By:
- Merriweather, Ashanta;
- Murdock, David R.;
- Rosenfeld, Jill A.;
- Dai, Hongzheng;
- Ketkar, Shamika;
- Emrick, Lisa;
- Nicholas, Sarah;
- Lewis, Richard A.;
- Bacino, Carlos A.;
- Scott, Daryl A.;
- Lee, Brendan;
- Sutton, Vernon Reid;
- Potocki, Lorraine;
- Burrage, Lindsay C.
Publication type:
Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
By:
- Magyar, Christina L.;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Dai, Hongzheng;
- Lalani, Seema R.;
- Lewis, Richard A.;
- Lin, Yuezhen;
- Astudillo, Marcela F.;
- Rosenfeld, Jill A.;
- Tran, Alyssa A.;
- Gibson, James B.;
- Bacino, Carlos A.;
- Lee, Brendan H.;
- Chao, Hsiao‐Tuan
Publication type:
Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
By:
- Keehan, Laura;
- Jiang, Ming‐Ming;
- Li, Xiaohui;
- Marom, Ronit;
- Dai, Hongzheng;
- Murdock, David;
- Liu, Pengfei;
- Hunter, Jill V.;
- Heaney, Jason D.;
- Robak, Laurie;
- Emrick, Lisa;
- Lotze, Timothy;
- Blieden, Lauren S.;
- Lewis, Richard Alan;
- Levin, Alex V.;
- Capasso, Jenina;
- Craigen, William J.;
- Rosenfeld, Jill A.;
- Lee, Brendan;
- Burrage, Lindsay C.
Publication type:
Article
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
By:
- Rosenfeld, Jill A.;
- Xiao, Rui;
- Bekheirnia, Mir Reza;
- Kanani, Farah;
- Parker, Michael J.;
- Koenig, Mary K.;
- Haeringen, Arie;
- Ruivenkamp, Claudia;
- Rosmaninho‐Salgado, Joana;
- Almeida, Pedro M.;
- Sá, Joaquim;
- Pinto Basto, Jorge;
- Palen, Emily;
- Oetjens, Kathryn F.;
- Burrage, Lindsay C.;
- Xia, Fan;
- Liu, Pengfei;
- Eng, Christine M.;
- Yang, Yaping;
- Posey, Jennifer E.
Publication type:
Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
By:
- Abbott, Megan;
- Jain, Mahim;
- Pferdehirt, Rachel;
- Chen, Yuqing;
- Tran, Alyssa;
- Duz, Mehmet B.;
- Seven, Mehmet;
- Gibbs, Richard A.;
- Muzny, Donna;
- Lee, Brendan;
- Marom, Ronit;
- Burrage, Lindsay C.
Publication type:
Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
By:
- Machol, Keren;
- Jain, Mahim;
- Almannai, Mohammed;
- Orand, Thibault;
- Lu, James T.;
- Tran, Alyssa;
- Chen, Yuqing;
- Schlesinger, Alan;
- Gibbs, Richard;
- Bonafe, Luisa;
- Campos‐Xavier, Ana Belinda;
- Unger, Sheila;
- Superti‐Furga, Andrea;
- Lee, Brendan H.;
- Campeau, Philippe M.;
- Burrage, Lindsay C.
Publication type:
Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
By:
- Posey, Jennifer E.;
- Burrage, Lindsay C.;
- Campeau, Philippe M.;
- Lu, James T.;
- Eble, Tanya N.;
- Kratz, Lisa;
- Schlesinger, Alan E.;
- Gibbs, Richard A.;
- Lee, Brendan H.;
- Nagamani, Sandesh C.S.
Publication type:
Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 841, doi. 10.1002/ajmg.a.35751
By:
- Burrage, Lindsay C.;
- Eble, Tanya N.;
- Hixson, Patricia M.;
- Roney, Erin K.;
- Cheung, Sau W.;
- Franco, Luis M.
Publication type:
Article
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2557, doi. 10.1002/ajmg.a.35549
By:
- Burrage, Lindsay C.;
- Person, Richard E.;
- Flores, Angela;
- Villanos, Maria Theresa M.;
- Bi, Weimin;
- Wiszniewska, Joanna;
- Bacino, Carlos A.
Publication type:
Article
Inherited Metabolic Disorders.
Published in:
Nutrition in Clinical Practice, 2015, v. 30, n. 4, p. 502, doi. 10.1177/0884533615586201
By:
- Boyer, Suzanne W.;
- Barclay, Lisa J.;
- Burrage, Lindsay C.
Publication type:
Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
By:
- Ernst, Michelle E.;
- Baugh, Evan H.;
- Thomas, Amanda;
- Bier, Louise;
- Lippa, Natalie;
- Stong, Nicholas;
- Mulhern, Maureen S.;
- Kushary, Sulagna;
- Akman, Cigdem I.;
- Heinzen, Erin L.;
- Yeh, Raymond;
- Bi, Weimin;
- Hanchard, Neil A.;
- Burrage, Lindsay C.;
- Leduc, Magalie S.;
- Chong, Josephine S. C.;
- Bend, Renee;
- Lyons, Michael J.;
- Lee, Jennifer A.;
- Suwannarat, Pim
Publication type:
Article
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Published in:
PLoS Genetics, 2023, v. 19, n. 11, p. 1, doi. 10.1371/journal.pgen.1011005
By:
- Marom, Ronit;
- Zhang, Bo;
- Washington, Megan E.;
- Song, I-Wen;
- Burrage, Lindsay C.;
- Rossi, Vittoria C.;
- Berrier, Ava S.;
- Lindsey, Anika;
- Lesinski, Jacob;
- Nonet, Michael L.;
- Chen, Jian;
- Baldridge, Dustin;
- Silverman, Gary A.;
- Sutton, V. Reid;
- Rosenfeld, Jill A.;
- Tran, Alyssa A.;
- Hicks, M. John;
- Murdock, David R.;
- Dai, Hongzheng;
- Weis, MaryAnn
Publication type:
Article
Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.
Published in:
2021
By:
- Zixue Jin;
- Kho, Jordan;
- Dawson, Brian;
- Ming-Ming Jiang;
- Yuqing Chen-Evenson;
- Ali, Saima;
- Burrage, Lindsay C.;
- Grover, Monica;
- Palmer, Donna J.;
- Turner, Dustin L.;
- Ng, Philip;
- Nagamani, Sandesh C. S.;
- Lee, Brendan;
- Jin, Zixue;
- Jiang, Ming-Ming;
- Chen, Yuqing;
- Nagamani, Sandesh Cs
Publication type:
journal article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Published in:
2021
By:
- Murdock, David R.;
- Hongzheng Dai;
- Burrage, Lindsay C.;
- Rosenfeld, Jill A.;
- Ketkar, Shamika;
- MÃller, Michaela F.;
- Yépez, Vicente A.;
- Gagneur, Julien;
- Pengfei Liu;
- Shan Chen;
- Jain, Mahim;
- Zapata, Gladys;
- Bacino, Carlos A.;
- Hsiao-Tuan Chao;
- Moretti, Paolo;
- Craigen, William J.;
- Hanchard, Neil A.;
- Lee, Brendan;
- Dai, Hongzheng;
- Müller, Michaela F
Publication type:
journal article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Published in:
2019
By:
- Posset, Roland;
- Gropman, Andrea L.;
- Nagamani, Sandesh C. S.;
- Burrage, Lindsay C.;
- Bedoyan, Jirair K.;
- Wong, Derek;
- Berry, Gerard T.;
- Baumgartner, Matthias R.;
- Yudkoff, Marc;
- Zielonka, Matthias;
- Hoffmann, Georg F.;
- Burgard, Peter;
- Schulze, Andreas;
- McCandless, Shawn E.;
- Garcia‐Cazorla, Angeles;
- Seminara, Jennifer;
- Garbade, Sven F.;
- Kölker, Stefan;
- Lee, Brendan;
- Harding, Cary O.
Publication type:
journal article
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 22, p. 6417, doi. 10.1093/hmg/ddv352
By:
- Burrage, Lindsay C.;
- Qin Sun;
- Elsea, Sarah H.;
- Ming-Ming Jiang;
- Nagamani, Sandesh C. S.;
- Frankel, Arthur E.;
- Stone, Everett;
- Alters, Susan E.;
- Johnson, Dale E.;
- Rowlinson, Scott W.;
- Georgiou, George;
- Lee, Brendan H.
Publication type:
Article
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
Published in:
Human Molecular Genetics, 2014, v. 23, n. R1, p. R1, doi. 10.1093/hmg/ddu123
By:
- Burrage, Lindsay C.;
- Nagamani, Sandesh C.S.;
- Campeau, Philippe M.;
- Lee, Brendan H.
Publication type:
Article
RNA Sequencing as a Diagnostic Tool.
Published in:
JAMA: Journal of the American Medical Association, 2023, v. 329, n. 1, p. 85, doi. 10.1001/jama.2022.22843
By:
- Ketkar, Shamika;
- Burrage, Lindsay C.;
- Lee, Brendan
Publication type:
Article
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
Published in:
Mammalian Genome, 2010, v. 21, n. 3/4, p. 115, doi. 10.1007/s00335-010-9247-9
By:
- Burrage, Lindsay C.;
- Baskin-Hill, Annie E.;
- Sinasac, David S.;
- Singer, Jonathan B.;
- Croniger, Colleen M.;
- Kirby, Andrew;
- Kulbokas, E. J.;
- Daly, Mark J.;
- Lander, Eric S.;
- Broman, Karl W.;
- Nadeau, Joseph H.
Publication type:
Article
Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17.
Published in:
Mammalian Genome, 2009, v. 20, n. 2, p. 71, doi. 10.1007/s00335-008-9165-2
By:
- Millward, Carrie A.;
- Burrage, Lindsay C.;
- Haifeng Shao;
- Sinasac, David S.;
- Kawasoe, Jean H.;
- Hill-Baskin, Annie E.;
- Ernest, Sheila R.;
- Gornicka, Aga;
- Chang-Wen Hsieh;
- Pisano, Sorana;
- Nadeau, Joseph H.;
- Croniger, Colleen M.
Publication type:
Article
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497
By:
- Dai, Hongzheng;
- Zhu, Wenmiao;
- Yuan, Bo;
- Walley, Nicole;
- Schoch, Kelly;
- Jiang, Yong‐Hui;
- Phillips, John A.;
- Jones, Melissa S.;
- Liu, Pengfei;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Lee, Brendan;
- Rosenfeld, Jill A.;
- Xiao, Rui
Publication type:
Article
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Published in:
Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
By:
- Zielonka, Matthias;
- Garbade, Sven F.;
- Gleich, Florian;
- Okun, Jürgen G.;
- Nagamani, Sandesh C. S.;
- Gropman, Andrea L.;
- Hoffmann, Georg F.;
- Kölker, Stefan;
- Posset, Roland;
- Ah Mew, Nicholas;
- Burrage, Lindsay C.;
- Schulze, Andreas;
- Berry, Susan A.;
- Baumgartner, Matthias R.;
- Diaz, George A.;
- Merritt, J. Lawrence;
- Bedoyan, Jirair K.;
- Wong, Derek;
- Harding, Cary O.;
- Yudkoff, Marc
Publication type:
Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
By:
- Marom, Ronit;
- Jain, Mahim;
- Burrage, Lindsay C.;
- Song, I‐Wen;
- Graham, Brett H.;
- Brown, Chester W.;
- Stevens, Servi J.C.;
- Stegmann, Alexander P.A.;
- Gunter, Andrew T.;
- Kaplan, Julie D.;
- Gavrilova, Ralitza H.;
- Shinawi, Marwan;
- Rosenfeld, Jill A.;
- Bae, Yangjin;
- Tran, Alyssa A.;
- Chen, Yuqing;
- Lu, James T.;
- Gibbs, Richard A.;
- Eng, Christine;
- Yang, Yaping
Publication type:
Article
Increased Mitochondrial Oxidative Phosphorylation in the Liver Is Associated With Obesity and Insulin Resistance.
Published in:
Obesity (19307381), 2011, v. 19, n. 5, p. 917, doi. 10.1038/oby.2010.214
By:
- Buchner, David A.;
- Yazbek, Soha N.;
- Solinas, Paola;
- Burrage, Lindsay C.;
- Morgan, Michael G.;
- Hoppel, Charles L.;
- Nadeau, Joseph H.
Publication type:
Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
By:
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Vögtle, F.-Nora;
- Wu-Lin Charng;
- Mulica, Patrycja;
- Rosenfeld, Jill A.;
- Gambin, Tomasz;
- Shen Gu;
- Burrage, Lindsay C.;
- Al Shamsi, Aisha;
- Penney, Samantha;
- Jhangiani, Shalini N.;
- Zimmerman, Holly H.;
- Muzny, Donna M.;
- Xia Wang;
- Jia Tang;
- Medikonda, Ravi;
- Ramachandran, Prasanna V.;
- Lee-Jun Wong;
- Boerwinkle, Eric
Publication type:
Article

Found: 33