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1
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
Material Type:
Artículo 		Añadir a Mi Portal

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

Cakici, Julie A ; Dimmock, David P ; Caylor, Sara A ; Gaughran, Mary ; Clarke, Christina ; Triplett, Cynthia ; Clark, Michelle M ; Kingsmore, Stephen F ; Bloss, Cinnamon S

American journal of human genetics, 2020-11, Vol.107 (5), p.953-962 [Revista revisada por pares]

United States: Elsevier

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2
Should we implement population screening for fragile X?
Should we implement population screening for fragile X?
Material Type:
Artículo 		Añadir a Mi Portal

Should we implement population screening for fragile X?

Dimmock, David P

Genetics in medicine, 2017-12, Vol.19 (12), p.1295-1299 [Revista revisada por pares]

United States: Elsevier Limited

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3
Better and faster is cheaper
Better and faster is cheaper
Material Type:
Artículo 		Añadir a Mi Portal

Better and faster is cheaper

Sanford Kobayashi, Erica F. ; Dimmock, David P.

Human mutation, 2022-11, Vol.43 (11), p.1495-1506 [Revista revisada por pares]

Hoboken: Hindawi Limited

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4
Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches
Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches
Material Type:
Artículo 		Añadir a Mi Portal

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

Prasad, Suyash ; Dimmock, David P ; Greenberg, Benjamin ; Walia, Jagdeep S ; Sadhu, Chanchal ; Tavakkoli, Fatemeh ; Lipshutz, Gerald S

Human gene therapy, 2022-12, Vol.33 (23-24), p.1228-1245 [Revista revisada por pares]

United States: Mary Ann Liebert, Inc

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5
Response to Metcalfe et al
Response to Metcalfe et al
Material Type:
Artículo 		Añadir a Mi Portal

Response to Metcalfe et al

Dimmock, David P

Genetics in medicine, 2018-09, Vol.20 (9), p.1093-1093 [Revista revisada por pares]

United States: Elsevier Limited

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6
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Material Type:
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

Kingsmore, Stephen F. ; Cakici, Julie A. ; Clark, Michelle M. ; Gaughran, Mary ; Feddock, Michele ; Batalov, Sergey ; Bainbridge, Matthew N. ; Carroll, Jeanne ; Caylor, Sara A. ; Clarke, Christina ; Ding, Yan ; Ellsworth, Katarzyna ; Farnaes, Lauge ; Hildreth, Amber ; Hobbs, Charlotte ; James, Kiely ; Kint, Cyrielle I. ; Lenberg, Jerica ; Nahas, Shareef ; Prince, Lance ; Reyes, Iris ; Salz, Lisa ; Sanford, Erica ; Schols, Peter ; Sweeney, Nathaly ; Tokita, Mari ; Veeraraghavan, Narayanan ; Watkins, Kelly ; Wigby, Kristen ; Wong, Terence ; Chowdhury, Shimul ; Wright, Meredith S. ; Dimmock, David ; Bezares, Zaira ; Bloss, Cinnamon ; Braun, Joshua J.A. ; Diaz, Carlos ; Mashburn, Dana ; Tamang, Dorjee ; Orendain, Daniken ; Friedman, Jenni ; Gleeson, Joe ; Barea, Jaime ; Chiang, George ; Cohenmeyer, Casey ; Coufal, Nicole G. ; Evans, Marva ; Honold, Jose ; Hovey, Raymond L. ; Kimball, Amy ; Lane, Brian ; Le, Crystal ; Le, Jennie ; Leibel, Sandra ; Moyer, Laurel ; Mulrooney, Patrick ; Oh, Daeheon ; Ordonez, Paulina ; Oriol, Albert ; Ortiz-Arechiga, Maria ; Puckett, Laura ; Speziale, Mark ; Suttner, Denise ; Van Der Kraan, Lucitia ; Knight, Gail ; Sauer, Charles ; Song, Richard ; White, Sarah ; Wise, Audra ; Yamada, Catherine

American journal of human genetics, 2019-10, Vol.105 (4), p.719-733 [Revista revisada por pares]

United States: Elsevier Inc

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7
Should states adopt newborn screening for early infantile Krabbe disease?
Should states adopt newborn screening for early infantile Krabbe disease?
Material Type:
Artículo 		Añadir a Mi Portal

Should states adopt newborn screening for early infantile Krabbe disease?

Dimmock, David P.

Genetics in medicine, 2016-03, Vol.18 (3), p.217-220 [Revista revisada por pares]

United States: Elsevier Inc

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8
SIGIRR genetic variants in premature infants with necrotizing enterocolitis
SIGIRR genetic variants in premature infants with necrotizing enterocolitis
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SIGIRR genetic variants in premature infants with necrotizing enterocolitis

Sampath, Venkatesh ; Menden, Heather ; Helbling, Daniel ; Li, Keguo ; Gastonguay, Adam ; Ramchandran, Ramani ; Dimmock, David P

Pediatrics (Evanston), 2015-06, Vol.135 (6), p.e1530-e1534 [Revista revisada por pares]

United States: American Academy of Pediatrics

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9
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Material Type:
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M. ; Bainbridge, Matthew ; Batalov, Sergey ; Benson, Wendy ; Blincow, Eric ; Caylor, Sara ; Chambers, Christina ; Del Angel, Guillermo ; Dimmock, David P. ; Ding, Yan ; Ellsworth, Katarzyna ; Feigenbaum, Annette ; Frise, Erwin ; Green, Robert C. ; Guidugli, Lucia ; Hall, Kevin P. ; Hansen, Christian ; Hobbs, Charlotte A. ; Kahn, Scott D. ; Kiel, Mark ; Van Der Kraan, Lucita ; Krilow, Chad ; Kwon, Yong H. ; Madhavrao, Lakshminarasimha ; Le, Jennie ; Lefebvre, Sebastien ; Mardach, Rebecca ; Mowrey, William R. ; Oh, Danny ; Owen, Mallory J. ; Powley, George ; Scharer, Gunter ; Shelnutt, Seth ; Tokita, Mari ; Mehtalia, Shyamal S. ; Oriol, Albert ; Papadopoulos, Stavros ; Perry, James ; Rosales, Edwin ; Sanford, Erica ; Schwartz, Steve ; Tran, Duke ; Reese, Martin G. ; Wright, Meredith ; Veeraraghavan, Narayanan ; Wigby, Kristen ; Willis, Mary J. ; Wolen, Aaron R. ; Defay, Thomas

American journal of human genetics, 2022-09, Vol.109 (9), p.1605-1619 [Revista revisada por pares]

United States: Elsevier Inc

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10
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Material Type:
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Raboisson, Marie Josee ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Cunningham, Zarazuela Zolkipli ; Rahman, Shamima ; Chinnery, Patrick F

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1397 [Revista revisada por pares]

United States: Elsevier Limited

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