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Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. [electronic resource] by
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- Shakhbatyan, Rimma
- Duffy, Elizabeth
- Bowser, Mark
- Harrison, Bryan
- Lafferty, Katherine
- Mahanta, Lisa
- Rehm, Heidi L
- Funke, Birgit H
Producer: 20150608
In:
The Journal of molecular diagnostics : JMD vol. 16
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43.
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Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations. [electronic resource] by
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- DeChene, Elizabeth T
- Peretz-Amit, Gabriela
- Funke, Birgit
- Zucker, Nili
- Hirsch, Rafael
- Tan, Wen-Hann
- Baris Feldman, Hagit
Producer: 20200416
In:
American journal of medical genetics. Part A vol. 179
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44.
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A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. [electronic resource] by
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- Finn, Christine T
- Babcock, Melanie
- Shprintzen, Robert J
- Morrow, Bernice E
- Kucherlapati, Raju
Producer: 20070510
In:
Genetic testing vol. 11
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45.
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Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. [electronic resource] by
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- White, Emily T
- Manion, Megan
- LeVan, Kevin
- Liu, Jonathan
- Farwell, Lisa M
- Iartchouk, Oleg
- Rehm, Heidi L
- Funke, Birgit H
Producer: 20110228
In:
The Journal of molecular diagnostics : JMD vol. 12
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46.
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Using high-resolution variant frequencies to empower clinical genome interpretation. [electronic resource] by
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- Minikel, Eric
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- Karczewski, Konrad
- Ing, Alexander Y
- Barton, Paul J R
- Funke, Birgit
- Cook, Stuart A
- MacArthur, Daniel
- Ware, James S
Producer: 20180604
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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47.
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ACMG clinical laboratory standards for next-generation sequencing. [electronic resource] by
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- Bayrak-Toydemir, Pinar
- Berg, Jonathan S
- Brown, Kerry K
- Deignan, Joshua L
- Friez, Michael J
- Funke, Birgit H
- Hegde, Madhuri R
- Lyon, Elaine
Producer: 20140310
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 15
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48.
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Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. [electronic resource] by
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- Harper, Kathryn M
- Hiramoto, Takeshi
- Funke, Birgit
- Lee, MoonSook
- Kang, Gina
- Buell, Mahalah
- Geyer, Mark A
- Kucherlapati, Raju
- Morrow, Bernice
- Männistö, Pekka T
- Agatsuma, Soh
- Hiroi, Noboru
Producer: 20100105
In:
Human molecular genetics vol. 18
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49.
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Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. [electronic resource] by
- Jordan, Daniel M
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- Baxter, Samantha M
- Agarwala, Vineeta
- Green, Robert C
- Murray, Michael F
- Pugh, Trevor
- Lebo, Matthew S
- Rehm, Heidi L
- Funke, Birgit H
- Sunyaev, Shamil R
Producer: 20110329
In:
American journal of human genetics vol. 88
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50.
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LAMP2 microdeletions in patients with Danon disease. [electronic resource] by
- Yang, Zhao
- Funke, Birgit H
- Cripe, Linda H
- Vick, G Wesley
- Mancini-Dinardo, Debora
- Peña, Liana S
- Kanter, Ronald J
- Wong, Brenda
- Westerfield, Brandy H
- Varela, Jaquelin J
- Fan, Yuxin
- Towbin, Jeffrey A
- Vatta, Matteo
Producer: 20100727
In:
Circulation. Cardiovascular genetics vol. 3
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51.
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The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration. [electronic resource] by
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- Sakamoto, Kazuho
- Vassilopoulos, Stéphane
- Camus, Stéphane M
- Griffin, Christine A
- Esk, Christopher
- Torres, Jorge A
- Ohkoshi, Norio
- Ishii, Akiko
- Tamaoka, Akira
- Funke, Birgit H
- Kucherlapati, Raju
- Margeta, Marta
- Rando, Thomas A
- Brodsky, Frances M
Producer: 20140904
In:
PloS one vol. 8
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52.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. [electronic resource] by
- Walsh, Roddy
- Thomson, Kate L
- Ware, James S
- Funke, Birgit H
- Woodley, Jessica
- McGuire, Karen J
- Mazzarotto, Francesco
- Blair, Edward
- Seller, Anneke
- Taylor, Jenny C
- Minikel, Eric V
- MacArthur, Daniel G
- Farrall, Martin
- Cook, Stuart A
- Watkins, Hugh
Producer: 20171211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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53.
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The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. [electronic resource] by
- Aronson, Samuel J
- Clark, Eugene H
- Babb, Lawrence J
- Baxter, Samantha
- Farwell, Lisa M
- Funke, Birgit H
- Hernandez, Amy Lovelette
- Joshi, Victoria A
- Lyon, Elaine
- Parthum, Andrew R
- Russell, Franklin J
- Varugheese, Matthew
- Venman, Thomas C
- Rehm, Heidi L
Producer: 20111012
In:
Human mutation vol. 32
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54.
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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. [electronic resource] by
- Lakdawala, Neal K
- Dellefave, Lisa
- Redwood, Charles S
- Sparks, Elizabeth
- Cirino, Allison L
- Depalma, Steve
- Colan, Steven D
- Funke, Birgit
- Zimmerman, Rebekah S
- Robinson, Paul
- Watkins, Hugh
- Seidman, Christine E
- Seidman, J G
- McNally, Elizabeth M
- Ho, Carolyn Y
Producer: 20100302
In:
Journal of the American College of Cardiology vol. 55
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55.
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. [electronic resource] by
- Pugh, Trevor J
- Kelly, Melissa A
- Gowrisankar, Sivakumar
- Hynes, Elizabeth
- Seidman, Michael A
- Baxter, Samantha M
- Bowser, Mark
- Harrison, Bryan
- Aaron, Daniel
- Mahanta, Lisa M
- Lakdawala, Neal K
- McDermott, Gregory
- White, Emily T
- Rehm, Heidi L
- Lebo, Matthew
- Funke, Birgit H
Producer: 20150407
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 16
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56.
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. [electronic resource] by
- Walsh, Roddy
- Buchan, Rachel
- Wilk, Alicja
- John, Shibu
- Felkin, Leanne E
- Thomson, Kate L
- Chiaw, Tang Hak
- Loong, Calvin Chin Woon
- Pua, Chee Jian
- Raphael, Claire
- Prasad, Sanjay
- Barton, Paul J
- Funke, Birgit
- Watkins, Hugh
- Ware, James S
- Cook, Stuart A
Producer: 20180806
In:
European heart journal vol. 38
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57.
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Author Correction: Best practices for benchmarking germline small-variant calls in human genomes. [electronic resource] by
- Krusche, Peter
- Trigg, Len
- Boutros, Paul C
- Mason, Christopher E
- De La Vega, Francisco M
- Moore, Benjamin L
- Gonzalez-Porta, Mar
- Eberle, Michael A
- Tezak, Zivana
- Lababidi, Samir
- Truty, Rebecca
- Asimenos, George
- Funke, Birgit
- Fleharty, Mark
- Chapman, Brad A
- Salit, Marc
- Zook, Justin M
Publication details: Nature biotechnology 05 2019
In:
Nature biotechnology vol. 37
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58.
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Best practices for benchmarking germline small-variant calls in human genomes. [electronic resource] by
- Krusche, Peter
- Trigg, Len
- Boutros, Paul C
- Mason, Christopher E
- De La Vega, Francisco M
- Moore, Benjamin L
- Gonzalez-Porta, Mar
- Eberle, Michael A
- Tezak, Zivana
- Lababidi, Samir
- Truty, Rebecca
- Asimenos, George
- Funke, Birgit
- Fleharty, Mark
- Chapman, Brad A
- Salit, Marc
- Zook, Justin M
Producer: 20190703
In:
Nature biotechnology vol. 37
Availability: No items available.
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59.
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Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. [electronic resource] by
- Olive, Michelle
- Harten, Ingrid
- Mitchell, Richard
- Beers, Jeanette K
- Djabali, Karima
- Cao, Kan
- Erdos, Michael R
- Blair, Cecilia
- Funke, Birgit
- Smoot, Leslie
- Gerhard-Herman, Marie
- Machan, Jason T
- Kutys, Robert
- Virmani, Renu
- Collins, Francis S
- Wight, Thomas N
- Nabel, Elizabeth G
- Gordon, Leslie B
Producer: 20101220
In:
Arteriosclerosis, thrombosis, and vascular biology vol. 30
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60.
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A novel custom resequencing array for dilated cardiomyopathy. [electronic resource] by
- Zimmerman, Rebekah S
- Cox, Stephanie
- Lakdawala, Neal K
- Cirino, Allison
- Mancini-DiNardo, Debora
- Clark, Eugene
- Leon, Annette
- Duffy, Elizabeth
- White, Emily
- Baxter, Samantha
- Alaamery, Manal
- Farwell, Lisa
- Weiss, Scott
- Seidman, Christine E
- Seidman, Jonathan G
- Ho, Carolyn Y
- Rehm, Heidi L
- Funke, Birgit H
Producer: 20100809
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 12
Availability: No items available.
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