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Health Care Utilization Patterns and Costs for Patients With Hidradenitis Suppurativa.
Published in:
JAMA Dermatology, 2014, v. 150, n. 9, p. 937, doi. 10.1001/jamadermatol.2014.691
By:
- Kirby, Joslyn S.;
- Miller, Jeffery J.;
- Adams, David R.;
- Leslie, Douglas
Publication type:
Article
Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Published in:
Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 993, doi. 10.1002/jgc4.1707
By:
- McConkie‐Rosell, Allyn;
- Spillmann, Rebecca C.;
- Schoch, Kelly;
- Sullivan, Jennifer A.;
- Walley, Nicole;
- McDonald, Marie;
- Hooper, Stephen R.;
- Shashi, Vandana;
- Adam, Margaret;
- Adams, David R.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim
Publication type:
Article
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 326, doi. 10.1002/jgc4.1493
By:
- Kohler, Jennefer N.;
- Kelley, Emily G.;
- Boyd, Brenna M.;
- Sillari, Catherine H.;
- Marwaha, Shruti;
- Wheeler, Matthew T.;
- 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
Publication type:
Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
By:
- McConkie‐Rosell, Allyn;
- Schoch, Kelly;
- Sullivan, Jennifer;
- Spillmann, Rebecca C.;
- Cope, Heidi;
- Tan, Queenie K.‐G.;
- Palmer, Christina G. S.;
- Hooper, Stephen R.;
- Shashi, Vandana;
- 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.
Publication type:
Article
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 439, doi. 10.1002/jgc4.1329
By:
- Studwell, Courtney M.;
- Kelley, Emily G.;
- Sinsheimer, Janet S.;
- Palmer, Christina G. S.;
- LeBlanc, Kimberly;
- 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;
- Baldridge, Dustin
Publication type:
Article
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 213, doi. 10.1002/jgc4.1119
By:
- Merker, Jason;
- Schelley, Susan;
- Enns, Gregory;
- Montgomery, Stephen;
- Zappala, Zach;
- Fresard, Laure;
- Prybol, Cameron;
- Taylor, Robert;
- McFarland, Robert;
- Holmes, Matthew;
- Thompson, Kyle;
- Olahova, Monika;
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.;
- Allard, Patrick;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Baker, Eva;
- Balasubramanyam, Ashok
Publication type:
Article
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 466, doi. 10.1002/jgc4.1094
By:
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.;
- Allard, Patrick;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Barseghyan, Hayk;
- Batzli, Gabriel F.;
- Beggs, Alan H.;
- Behnam, Babak;
- Bellen, Hugo J.;
- Bican, Anna;
- Bick, David P.;
- Birch, Camille L.;
- Boone, Braden E.;
- Bostwick, Bret L.;
- Briere, Lauren C.
Publication type:
Article
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Published in:
2016
By:
- Maduro, Valerie;
- Pusey, Barbara N.;
- Cherukuri, Praveen F.;
- Atkins, Paul;
- du Souich, Christèle;
- Rupps, Rosemarie;
- Limbos, Marjolaine;
- Adams, David R.;
- Bhatt, Samarth S.;
- Eydoux, Patrice;
- Links, Amanda E.;
- Lehman, Anna;
- Malicdan, May C.;
- Mason, Christopher E.;
- Morimoto, Marie;
- Mullikin, James C.;
- Sear, Andrew;
- Van Karnebeek, Clara;
- Stankiewicz, Pawel;
- Gahl, William A.
Publication type:
journal article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8
By:
- Albert, Jessica S.;
- Bhattacharyya, Nisan;
- Wolfe, Lynne A.;
- Bone, William P.;
- Maduro, Valerie;
- Accardi, John;
- Adams, David R.;
- Schwartz, Charles E.;
- Norris, Joy;
- Wood, Tim;
- Gafni, Rachel I.;
- Collins, Michael T.;
- Tosi, Laura L.;
- Markello, Thomas C.;
- Gahl, William A.;
- Boerkoel, Cornelius F.
Publication type:
Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Published in:
2015
By:
- Albert, Jessica S;
- Bhattacharyya, Nisan;
- Wolfe, Lynne A;
- Bone, William P;
- Maduro, Valerie;
- Accardi, John;
- Adams, David R;
- Schwartz, Charles E;
- Norris, Joy;
- Wood, Tim;
- Gafni, Rachel I;
- Collins, Michael T;
- Tosi, Laura L;
- Markello, Thomas C;
- Gahl, William A;
- Boerkoel, Cornelius F
Publication type:
journal article
A Novel Selective Sphingosine Kinase 2 Inhibitor, HWG-35D, Ameliorates the Severity of Imiquimod-Induced Psoriasis Model by Blocking Th17 Differentiation of Naïve CD4 T Lymphocytes.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8371, doi. 10.3390/ijms21218371
By:
- Shin, Sun-Hye;
- Kim, Hee-Yeon;
- Yoon, Hee-Soo;
- Park, Woo-Jae;
- Adams, David R.;
- Pyne, Nigel J.;
- Pyne, Susan;
- Park, Joo-Won
Publication type:
Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Published in:
PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008143
By:
- Sharma, Prashant;
- Reichert, Marie;
- Lu, Yan;
- Markello, Thomas C.;
- Adams, David R.;
- Steinbach, Peter J.;
- Fuqua, Brie K.;
- Parisi, Xenia;
- Kaler, Stephen G.;
- Vulpe, Christopher D.;
- Anderson, Gregory J.;
- Gahl, William A.;
- Malicdan, May Christine V.
Publication type:
Article
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
Published in:
2011
By:
- Onojafe, Ighovie F.;
- Adams, David R.;
- Simeonov, Dimitre R.;
- Zhang, Jun;
- Chan, Chi-Chao;
- Bernardini, Isa M.;
- Sergeev, Yuri V.;
- Dolinska, Monika B.;
- Alur, Ramakrishna P.;
- Brilliant, Murray H.;
- Gahl, William A.;
- Brooks, Brian P.
Publication type:
journal article
Identification of a multifunctional docking site on the catalytic unit of phosphodiesterase-4 (PDE4) that is utilised by multiple interaction partners.
Published in:
Biochemical Journal, 2017, v. 474, n. 4, p. 597, doi. 10.1042/BCJ20160849
By:
- Houslay, Kirsty F.;
- Christian, Frank;
- MacLeod, Ruth;
- Adams, David R.;
- Houslay, Miles D.;
- Baillie, George S.
Publication type:
Article
ON PACARD'S REGULARITY FOR THE EQUATION -Δ<sub>u</sub> = u<sup>p</sup>.
Published in:
Electronic Journal of Differential Equations, 2012, v. 2012, p. 1
By:
- ADAMS, DAVID R.
Publication type:
Article
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892
By:
- Borja, Nicholas;
- Bivona, Stephanie;
- Peart, Lé Shon;
- Johnson, Brittany;
- Gonzalez, Joanna;
- Barbouth, Deborah;
- Moore, Henry;
- Guo, Shengru;
- Bademci, Guney;
- Tekin, Mustafa;
- 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.
Publication type:
Article
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665
By:
- Cope, Heidi;
- Barseghyan, Hayk;
- Bhattacharya, Surajit;
- Fu, Yulong;
- Hoppman, Nicole;
- Marcou, Cherisse;
- Walley, Nicole;
- Rehder, Catherine;
- Deak, Kristen;
- Alkelai, Anna;
- Vilain, Eric;
- Shashi, Vandana;
- Acosta, Maria T;
- Adam, Margaret;
- Adams, David R;
- Agrawal, Pankaj B;
- Alejandro, Mercedes E;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley
Publication type:
Article
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1692
By:
- Sturrock, Beattie R. H.;
- Macnamara, Ellen F.;
- McGuire, Peter;
- Kruk, Shannon;
- Yang, Ivan;
- Murphy, Jennifer;
- Tifft, Cyndi J.;
- Gordon‐Lipkin, Eliza;
- 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
Publication type:
Article
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1544
By:
- Meissner, Laura E.;
- Macnamara, Ellen F.;
- D'Souza, Precilla;
- Yang, John;
- Vezina, Gilbert;
- Ferreira, Carlos R.;
- Zein, Wadih M.;
- Tifft, Cynthia J.;
- Adams, David R.;
- Acosta, Maria T.;
- Adam, Margaret;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney
Publication type:
Article
Limited Effects of Endurance or Interval Training on Visceral Adipose Tissue and Systemic Inflammation in Sedentary Middle-Aged Men.
Published in:
Journal of Obesity, 2016, p. 1, doi. 10.1155/2016/2479597
By:
- Cooper, Joshua H. F.;
- Collins, Blake E. G.;
- Adams, David R.;
- Robergs, Robert A.;
- Donges, Cheyne E.
Publication type:
Article
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
By:
- McNamee, Lucy;
- Schoch, Kelly;
- Huang, Alden;
- Lee, Hane;
- Wang, Lee‐kai;
- Smith, Edward C.;
- Lark, Robert K.;
- Buckley, Anne F.;
- Jobanputra, Vaidehi;
- Nelson, Stanley F.;
- Shashi, Vandana;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley
Publication type:
Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
By:
- Stellacci, Emilia;
- Carter, Jennefer N.;
- Pannone, Luca;
- Stevenson, David;
- Moslehi, Dorsa;
- Venanzi, Serenella;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
By:
- Ezell, Kimberly M.;
- Tinker, Rory J.;
- Furuta, Yutaka;
- Gulsevin, Alican;
- Bastarache, Lisa;
- Hamid, Rizwan;
- Cogan, Joy D.;
- Rives, Lynette;
- Neumann, Serena;
- Corner, Brian;
- Kozuria, Mary;
- Phillips, John A.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Article
EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
By:
- Forghani, Irman;
- Lang, Steven H.;
- Rodier, Matthew J.;
- Bivona, Stephanie A.;
- 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;
- Baldridge, Dustin;
- Bale, Jim
Publication type:
Article
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
By:
- Ward, Scott K.;
- Wadley, Alexandrea;
- Tsai, Chun‐hui;
- Benke, Paul J.;
- Emrick, Lisa;
- Fisher, Kristen;
- Houck, Kimberly M.;
- Dai, Hongzheng;
- 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
Publication type:
Article
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1911, doi. 10.1002/ajmg.a.63193
By:
- Borja, Nicholas;
- Borjas‐Mendoza, Paulo;
- Bivona, Stephanie;
- Peart, LéShon;
- Gonzalez, Joanna;
- Johnson, Brittney Keira;
- Guo, Shengru;
- Yusupov, Roman;
- 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
Publication type:
Article
Sudden infant death 'syndrome'-Insights and future directions from a Utah population database analysis.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 177, doi. 10.1002/ajmg.a.37994
By:
- Christensen, Erik D.;
- Berger, Justin;
- Alashari, Mouied M.;
- Coon, Hilary;
- Robison, Cynthia;
- Ho, Hsu‐Tso;
- Adams, David R.;
- Gahl, Willian A.;
- Smith, Ken R.;
- Opitz, John M.;
- Johnson, Dennis R.
Publication type:
Article
Phenotypic Evolution of UNC80 Loss of Function.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929
By:
- Valkanas, Elise;
- Schaffer, Katherine;
- Dunham, Christopher;
- Maduro, Valerie;
- du Souich, Christèle;
- Rupps, Rosemarie;
- Adams, David R.;
- Baradaran‐Heravi, Alireza;
- Flynn, Elise;
- Malicdan, May C.;
- Gahl, William A.;
- Toro, Camilo;
- Boerkoel, Cornelius F.
Publication type:
Article
Putting the lid on phosphodiesterase 4.
Published in:
2010
By:
- Houslay, Miles D.;
- Adams, David R.
Publication type:
Opinion
The Secret Printing and Publishing Career of Richard Overton the Leveller, 1644–46.
Published in:
Library, 2010, v. 11, n. 1, p. 3, doi. 10.1093/library/11.1.3
By:
- Adams, David R.
Publication type:
Article
E‐cadherin and p120ctn protein expression are lost in hidradenitis suppurativa lesions.
Published in:
Experimental Dermatology, 2019, v. 28, n. 7, p. 867, doi. 10.1111/exd.13973
By:
- Nelson, Amanda M.;
- Cong, Zhaoyuan;
- Gettle, Samantha L.;
- Longenecker, Amy L.;
- Kidacki, Michal;
- Kirby, Joslyn S.;
- Adams, David R.;
- Stairs, Douglas B.;
- Danby, Frederick W.
Publication type:
Article
Eczema Herpeticum: A Dermatologic Emergency.
Published in:
Dermatology Nursing, 2002, v. 14, n. 5, p. 307
By:
- Mackley, Christine L.;
- Adams, David R.;
- Anderson, Bryan;
- Miller, Jeffrey J.
Publication type:
Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Published in:
2019
By:
- Power, Bradley;
- Ferreira, Carlos R.;
- Chen, Dong;
- Zein, Wadih M.;
- O'Brien, Kevin J.;
- Introne, Wendy J.;
- Stephen, Joshi;
- Gahl, William A.;
- Huizing, Marjan;
- Malicdan, May Christine V.;
- Adams, David R.;
- Gochuico, Bernadette R.
Publication type:
journal article
Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.
Published in:
BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y
By:
- Cherukuri, Praveen F.;
- Maduro, Valerie;
- Fuentes-Fajardo, Karin V.;
- Lam, Kevin;
- Adams, David R.;
- Tifft, Cynthia J.;
- Mullikin, James C.;
- Gahl, William A.;
- Boerkoel, Cornelius F.
Publication type:
Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
Published in:
2020
By:
- Blanco-Sánchez, Bernardo;
- Clément, Aurélie;
- Stednitz, Sarah J.;
- Kyle, Jennifer;
- Peirce, Judy L.;
- McFadden, Marcie;
- Wegner, Jeremy;
- Phillips, Jennifer B.;
- Macnamara, Ellen;
- Huang, Yan;
- Adams, David R.;
- Toro, Camilo;
- Gahl, William A.;
- Malicdan, May Christine V.;
- Tifft, Cynthia J.;
- Zink, Erika M.;
- Bloodsworth, Kent J.;
- Stratton, Kelly G.;
- Koeller, David M.;
- Metz, Thomas O.
Publication type:
Correction Notice
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
Published in:
PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
By:
- Blanco-Sánchez, Bernardo;
- Clément, Aurélie;
- Stednitz, Sara J.;
- Kyle, Jennifer;
- Peirce, Judy L.;
- McFadden, Marcie;
- Wegner, Jeremy;
- Phillips, Jennifer B.;
- Macnamara, Ellen;
- Huang, Yan;
- Adams, David R.;
- Toro, Camilo;
- Gahl, William A.;
- Malicdan, May Christine V.;
- Tifft, Cynthia J.;
- Zink, Erika M.;
- Bloodsworth, Kent J.;
- Stratton, Kelly G.;
- Koeller, David M.;
- Metz, Thomas O.
Publication type:
Article
Dihydroceramide Desaturase Functions as an Inducer and Rectifier of Apoptosis: Effect of Retinol Derivatives, Antioxidants and Phenolic Compounds.
Published in:
Cell Biochemistry & Biophysics, 2021, v. 79, n. 3, p. 461, doi. 10.1007/s12013-021-00990-1
By:
- Alsanafi, Mariam;
- Brown, Ryan D. R.;
- Oh, Jeongah;
- Adams, David R.;
- Torta, Federico;
- Pyne, Nigel J.;
- Pyne, Susan
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
Wolff potentials and the 3-d wave operator.
Published in:
Forum Mathematicum, 2011, v. 23, n. 5, p. 961, doi. 10.1515/FORM.2011.034
By:
- Adams, David R.
Publication type:
Article
Capacity and potentials on curves.
Published in:
Forum Mathematicum, 2010, v. 22, n. 5, p. 985, doi. 10.1515/FORUM.2010.053
By:
- Adams, David R.
Publication type:
Article
Capacity and blow-up for the 3 + 1 dimensional wave operator.
Published in:
Forum Mathematicum, 2008, v. 20, n. 2, p. 341, doi. 10.1515/FORUM.2008.017
By:
- Adams, David R.
Publication type:
Article
Explorations to improve the completeness of exome sequencing.
Published in:
BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0216-3
By:
- Chen Du;
- Pusey, Barbara N.;
- Adams, Christopher J.;
- Lau, C. Christopher;
- Bone, William P.;
- Gahl, William A.;
- Markello, Thomas C.;
- Adams, David R.
Publication type:
Article
Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02598-x
By:
- Miller, Ilana M.;
- Yashar, Beverly M.;
- Undiagnosed Disease Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim;
- Bamshad, Michael;
- Barbouth, Deborah
Publication type:
Article
Chemically engineering ligand selectivity at the free fatty acid receptor 2 based on pharmacological variation between species orthologs.
Published in:
FASEB Journal, 2012, v. 26, n. 12, p. 4951, doi. 10.1096/fj.12-213314
By:
- Hudson, Brian D.;
- Christiansen, Elisabeth;
- Tikhonova, Irina G.;
- Grundmann, Manuel;
- Kostenis, Evi;
- Adams, David R.;
- Ulven, Trond;
- Milligan, Graeme
Publication type:
Article
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Published in:
BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-023-09935-9
By:
- Lu, Jinfeng;
- Toro, Camilo;
- Adams, David R.;
- Acosta, Maria T.;
- Adam, Margaret;
- 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;
- Bayrak-Toydemir, Pinar;
- Beck, Anita;
- Beggs, Alan H.
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
Effects of Aerobic, Strength or Combined Exercise on Perceived Appetite and Appetite-Related Hormones in Inactive Middle-Aged Men.
Published in:
International Journal of Sport Nutrition & Exercise Metabolism, 2017, v. 27, n. 5, p. 389, doi. 10.1123/ijsnem.2017-0144
By:
- Larsen, Penelope S.;
- Donges, Cheyne E.;
- Guelfi, Kym J.;
- Smith, Greg C.;
- Adams, David R.;
- Duffield, Rob
Publication type:
Article
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Published in:
2024
By:
- Dohrn, Maike F.;
- Bademci, Guney;
- Rebelo, Adriana P.;
- Jeanne, Médéric;
- Borja, Nicholas A.;
- Beijer, Danique;
- Danzi, Matt C.;
- Bivona, Stephanie A.;
- Gueguen, Paul;
- Zafeer, Mohammad F.;
- Tekin, Mustafa;
- Züchner, Stephan;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Case Study
Persistent Allergic Contact Dermatitis to Plastic Toilet Seats.
Published in:
Pediatric Dermatology, 2011, v. 28, n. 5, p. 587, doi. 10.1111/j.1525-1470.2010.01211.x
By:
- HEILIG, SARA;
- ADAMS, DAVID R.;
- ZAENGLEIN, ANDREA L.
Publication type:
Article
Diffuse Clusters of Vesicles on the Face and Extremities of a 10-Month-Old Girl.
Published in:
Pediatric Dermatology, 2009, v. 26, n. 6, p. 747, doi. 10.1111/j.1525-1470.2009.01025.x
By:
- Straub, Renee D.;
- Salvaggio, Heather L.;
- Adams, David R.;
- Zaenglein, Andrea L.
Publication type:
Article

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