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Author/Creator Demmer, Laurie

1. Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review. Issue 6 (8th March 2016)

Authors:
Tan, Christopher A.; Rabideau, Marina; Blevins, Amy; Westbrook, Marjorie Jody; Ekstein, Tali; Nykamp, Keith; Deucher, Anne; Harper, Amy; Demmer, Laurie
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 6(2016)
Page Start:
1580
Record Type:
Journal Article
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2. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
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3. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
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4. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Issue 10 (5th August 2013)

Authors:
Gripp, Karen W.; Zand, Dina J.; Demmer, Laurie; Anderson, Carol E.; Dobyns, William B.; Zackai, Elaine H.; Denenberg, Elizabeth; Jenny, Kim; Stabley, Deborah L.; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2420
Record Type:
Journal Article
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5. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021)

Authors:
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 5(2022)
Page Start:
511
Record Type:
Journal Article
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6. Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders. Issue 6 (24th October 2019)

Authors:
Kang, Seok Kyu; Vanoye, Carlos G.; Misra, Sunita N.; Echevarria, Dennis M.; Calhoun, Jeffrey D.; O'Connor, John B.; Fabre, Katarina L.; McKnight, Dianalee; Demmer, Laurie; Goldenberg, Paula; Grote, Lauren E.; Thiffault, Isabelle; Saunders, Carol; Strauss, Kevin A.; Torkamani, Ali; van der Smagt, ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 6(2019)
Page Start:
899
Record Type:
Journal Article
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