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Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2922, doi. 10.1002/ajmg.a.62372
By:
- Guo, Michael H.;
- Bardakjian, Tanya M.;
- Brzozowski, Morgan R.;
- Scherer, Steven S.;
- Quinn, Colin;
- Elman, Lauren;
- Orthmann‐Murphy, Jennifer;
- Tropea, Thomas F.;
- Ellis, Colin A.;
- Gonzalez‐Alegre, Pedro
Publication type:
Article
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2519, doi. 10.1002/ajmg.a.36128
By:
- Guo, Michael H.;
- Stoler, Joan;
- Lui, Julian;
- Nilsson, Ola;
- Bianchi, Diana W.;
- Hirschhorn, Joel N.;
- Dauber, Andrew
Publication type:
Article
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
Published in:
2015
By:
- Zhu, Jia;
- Choa, Ruth E-Y;
- Guo, Michael H;
- Plummer, Lacey;
- Buck, Cassandra;
- Palmert, Mark R;
- Hirschhorn, Joel N;
- Seminara, Stephanie B;
- Chan, Yee-Ming
Publication type:
journal article
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
Published in:
2014
By:
- Nilsson, Ola;
- Guo, Michael H;
- Dunbar, Nancy;
- Popovic, Jadranka;
- Flynn, Daniel;
- Jacobsen, Christina;
- Lui, Julian C;
- Hirschhorn, Joel N;
- Baron, Jeffrey;
- Dauber, Andrew
Publication type:
journal article
Case of Serotonin Syndrome Initially Presenting as Diffuse Body Pain.
Published in:
American Journal of Case Reports, 2018, v. 19, p. 1227, doi. 10.12659/AJCR.911204
By:
- Guo, Michael H.;
- Monir, Reesa L.;
- Wright, Ashleigh;
- Holland, Neal P.
Publication type:
Article
Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.
Published in:
Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02694-y
By:
- Guo, Michael H.;
- Sama, Prashanth;
- LaBarre, Brenna A.;
- Lokhande, Hrishikesh;
- Balibalos, John;
- Chu, Ci;
- Du, Xiaomi;
- Kheradpour, Pouya;
- Kim, Charles C.;
- Oniskey, Taylor;
- Snyder, Thomas;
- Soghoian, Damien Z.;
- Weiner, Howard L.;
- Chitnis, Tanuja;
- Patsopoulos, Nikolaos A.
Publication type:
Article
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 927, doi. 10.1515/jpem-2014-0450
By:
- Quintos, Jose Bernardo;
- Guo, Michael H.;
- Dauber, Andrew
Publication type:
Article
Using the time and motion method to study clinical work processes and workflow: methodological inconsistencies and a call for standardized research.
Published in:
Journal of the American Medical Informatics Association, 2011, v. 18, n. 5, p. 704, doi. 10.1136/amiajnl-2011-000083
By:
- Kai Zheng;
- Guo, Michael H.;
- Hanauer, David A.
Publication type:
Article
Osteoimmunology: Interactions With the Immune System in Spinal Fusion.
Published in:
International Journal of Spine Surgery, 2023, v. 17, p. S9, doi. 10.14444/8556
By:
- BERGIN, STEPHEN M.;
- CRUTCHER, CLIFFORD L.;
- KEELER, CAROLYN;
- ROCOS, BRETT;
- HAGLUND, MICHAEL M.;
- GUO, H. MICHAEL;
- GOTTFRIED, OREN N.;
- RICHARDSON, WILLIAM J.;
- THAN, KHOI D.
Publication type:
Article
TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.
Published in:
2019
By:
- Tropea, Thomas F.;
- Mak, Jordan;
- Rick, Jacqueline;
- Siderowf, Andrew;
- Grossman, Murray;
- Irwin, David;
- Wolk, David A.;
- Chen‐Plotkin, Alice S.;
- Guo, Michael H.;
- Xie, Sharon X.;
- Suh, Eunran;
- Van Deerlin, Vivianna;
- Trojanowski, John Q.;
- Weintraub, Daniel;
- Chen-Plotkin, Alice S
Publication type:
journal article
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Published in:
Journal of Neurology, 2024, v. 271, n. 2, p. 733, doi. 10.1007/s00415-023-12058-6
By:
- Dratch, Laynie;
- Azage, Meron;
- Baldwin, Aaron;
- Johnson, Kelsey;
- Paul, Rachel A.;
- Bardakjian, Tanya M.;
- Michon, Sara-Claude;
- Amado, Defne A.;
- Baer, Michael;
- Deik, Andres F.;
- Elman, Lauren B.;
- Gonzalez-Alegre, Pedro;
- Guo, Michael H.;
- Hamedani, Ali G.;
- Irwin, David J.;
- Lasker, Aaron;
- Orthmann-Murphy, Jennifer;
- Quinn, Colin;
- Tropea, Thomas F.;
- Scherer, Steven S.
Publication type:
Article
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Published in:
Biology (2079-7737), 2024, v. 13, n. 2, p. 93, doi. 10.3390/biology13020093
By:
- Dratch, Laynie;
- Bardakjian, Tanya M.;
- Johnson, Kelsey;
- Babaian, Nareen;
- Gonzalez-Alegre, Pedro;
- Elman, Lauren;
- Quinn, Colin;
- Guo, Michael H.;
- Scherer, Steven S.;
- Amado, Defne A.
Publication type:
Article
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
Published in:
Hormone Research in Paediatrics, 2017, v. 87, n. 6, p. 412, doi. 10.1159/000464143
By:
- Ocaranza, Paula;
- Golekoh, Marjorie C.;
- Andrew, Shayne F.;
- Guo, Michael H.;
- Kaplowitz, Paul;
- Saal, Howard;
- Rosenfeld, Ron G.;
- Dauber, Andrew;
- Cassorla, Fernando;
- Backeljauw, Philippe F.;
- Hwa, Vivian
Publication type:
Article
Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.
Published in:
Hormone Research in Paediatrics, 2017, v. 87, n. 4, p. 264, doi. 10.1159/000448754
By:
- Swartz, Jonathan M.;
- Ciarlo, Ryan;
- Guo, Michael H.;
- abrha, aser;
- Diamond, David a.;
- Chan, Yee-Ming;
- Hirschhorn, Joel N.
Publication type:
Article
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
Published in:
Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000452888
By:
- Swartz, Jonathan M.;
- Ciarlo, Ryan;
- Guo, Michael H.;
- abrha, aser;
- Weaver, Benjamin;
- Diamond, David a.;
- Chan, Yee-Ming;
- Hirschhorn, Joel N.
Publication type:
Article
Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
Published in:
Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857
By:
- Guo, Michael H.;
- Shen, Yiping;
- Walvoord, Emily C.;
- Miller, Timothy C.;
- Moon, Jennifer E.;
- Hirschhorn, Joel N.;
- Dauber, andrew
Publication type:
Article
Development of a low back pain care pathway in an academic hospital system: results of a consensus process.
Published in:
Journal of Orthopaedic Surgery & Research, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13018-023-04492-z
By:
- Bejarano, Geronimo;
- Vining, Robert;
- Desai, Devan P.;
- Minchew, Joe;
- Michael Guo, H.;
- Goertz, Christine
Publication type:
Article
Insights and Implications of Genome-Wide Association Studies of Height.
Published in:
2018
By:
- Guo, Michael H;
- Hirschhorn, Joel N;
- Dauber, Andrew
Publication type:
journal article

Found: 18