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Author/Creator Signer, Rebecca

1. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Issue 5 (25th February 2021)

Authors:
Eno, Celeste C.; Graakjaer, Jesper; Svaneby, Dea; Nizon, Mathilde; Kianmahd, Jessica; Signer, Rebecca; Martinez‐Agosto, Julian A.; Quintero‐Rivera, Fabiola
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1519
Record Type:
Journal Article
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2. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. Issue 2 (24th January 2019)

Authors:
Macnamara, Ellen F.; Schoch, Kelly; Kelley, Emily G.; Fieg, Elizabeth; Brokamp, Elly; Signer, Rebecca; LeBlanc, Kimberly; McConkie‐Rosell, Allyn; Palmer, Christina G.S.
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 2(2019)
Page Start:
194
Record Type:
Journal Article
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3. Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study. Issue 8 (August 2022)

Authors:
Xu, Jiayi; Johnson, Jessica S; Signer, Rebecca; Birgegård, Andreas; Jordan, Jennifer; Kennedy, Martin A; Landén, Mikael; Maguire, Sarah L; Martin, Nicholas G; Mortensen, Preben Bo; Petersen, Liselotte V; Thornton, Laura M; Bulik, Cynthia M; Huckins, Laura M
Journal:
Lancet
Issue:
Volume 4:Issue 8(2022)
Page Start:
e604
Record Type:
Journal Article
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4. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Issue 10 (30th July 2020)

Authors:
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, Am...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 10(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Issue 11 (15th October 2020)

Authors:
Diaz, Frank; Khosa, Shaweta; Niyazov, Dmitriy; Lee, Hane; Person, Richard; Morrow, Michelle M.; Signer, Rebecca; Dorrani, Naghmeh; Zheng, Allison; Herzog, Matthew; Freundlich, Robert; Birath, J. Brandon; Cervantes‐Manzo, Yurivia; Martinez‐Agosto, Julian A.; Palmer, Christina; Nelson, Stanley F.; ...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 11(2020)
Page Start:
2320
Record Type:
Journal Article
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7. P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION. (1st July 2019)

Authors:
Ringman, John M.; Dorrani, Naghmeh; Signer, Rebecca; Martinez-Agosto, Julian; Lee, Hane; Douine, Emilie; Qiao, Yuchuan; Wang, Junyan; Shi, Yonggang; D'Orazio, Lina; Cederbaum, Stephan; Nelson, Stanley; Chui, Helena C.
Journal:
Alzheimer's & dementia
Issue:
Volume 15:Supplement 7S(2019)Part 5
Page Start:
P282
Record Type:
Journal Article
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8. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019)

Authors:
Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez‐Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres‐Marti...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 10(2019)
Page Start:
2075
Record Type:
Journal Article
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9. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
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