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Author/Creator Calame, Daniel G.

2. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. (June 2021)

Authors:
Calame, Daniel G.; Fatih, Jawid; Herman, Isabella; Akdemir, Zeynep Coban; Du, Haowei; Jhangiani, Shalini N.; Gibbs, Richard A.; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Lotze, Timothy; Mancias, Pedro; Bhattacharjee, Meenakshi Bidwai; Lupski, James R.
Journal:
Neurology
Issue:
Volume 7:Number 3(2021)
Page Start:
Record Type:
Journal Article
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3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

Authors:
Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E...
Journal:
Annals of neurology
Issue:
Volume 92:Issue 2(2022)
Page Start:
304
Record Type:
Journal Article
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5. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Issue 10 (15th September 2021)

Authors:
Calame, Daniel G.; Fatih, Jawid M.; Herman, Isabella; Coban‐Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Jhangiani, Shalini N.; Marafi, Dana; Gibbs, Richard A.; Posey, Jennifer E.; Mehta, Vidya P.; Mohila, Carrie A.; Abid, Farida; Lotze, Timothy E.; Pehlivan, Davut; Adesina, Adekunle M.; Lupski...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 8:Issue 10(2021)
Page Start:
2052
Record Type:
Journal Article
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7. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021)

Authors:
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong‐Javors, Amy; Mencacci, Niccolò E.; Gonzàlez‐Latapi, Paulina; Kamel, Walaa A.; Al‐H...
Journal:
Annals of neurology
Issue:
Volume 89:Issue 4(2021)
Page Start:
828
Record Type:
Journal Article
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8. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Issue 7 (24th March 2022)

Authors:
Taşdelen, Elifcan; Calame, Daniel G.; Akay, Gulsen; Mitani, Tadahiro; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Coban‐Akdemir, Zeynep; Marafi, Dana; Jhangiani, Shalini N.; Posey, Jennifer E.; Gibbs, Richard A.; Altıparmak, Taylan; Kutlay, Nüket Yürür; Lupski, James R.; Pehlivan, Davut
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 7(2022)
Page Start:
2153
Record Type:
Journal Article
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9. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Issue 3 (23rd November 2021)

Authors:
Herman, Isabella; Jolly, Angad; Du, Haowei; Dawood, Moez; Abdel‐Salam, Ghada M. H.; Marafi, Dana; Mitani, Tadahiro; Calame, Daniel G.; Coban‐Akdemir, Zeynep; Fatih, Jawid M.; Hegazy, Ibrahim; Jhangiani, Shalini N.; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
735
Record Type:
Journal Article
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10. Risk of sudden cardiac death in EXOSC5‐related disease. Issue 8 (4th June 2021)

Authors:
Calame, Daniel G.; Herman, Isabella; Fatih, Jawid M.; Du, Haowei; Akay, Gulsen; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep; Milewicz, Dianna M.; Gibbs, Richard A.; Posey, Jennifer E.; Marafi, Dana; Hunter, Jill V.; Fan, Yuxin; Lupski, James R.; Miyake, Christina Y.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2532
Record Type:
Journal Article
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