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Author/Creator Schreiber, Allison

1. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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2. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014)

Authors:
Lee, Jae‐Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So‐Hee; Brunel‐Guitton, Catherine; Décarie, Jean‐Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boyco...
Journal:
Human mutation
Issue:
Volume 36:Issue 1(2015:Jan.)
Page Start:
69
Record Type:
Journal Article
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3. Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea. Issue 4 (5th March 2021)

Authors:
Liao, Jun; Coffman, Keith A.; Locker, Joseph; Padiath, Quasar S.; Nmezi, Bruce; Filipink, Robyn A.; Hu, Jie; Sathanoori, Malini; Madan‐Khetarpal, Suneeta; McGuire, Marianne; Schreiber, Allison; Moran, Rocio; Friedman, Neil; Hoffner, Lori; Rajkovic, Aleksandar; Yatsenko, Svetlana A.; Surti, Urvashi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 4(2021)
Page Start:
n/a
Record Type:
Journal Article
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4. Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care. Issue 1 (27th July 2017)

Authors:
Hicks, J. Kevin; Shealy, Amy; Schreiber, Allison; Coleridge, Marissa; Noss, Ryan; Natowicz, Marvin; Moran, Rocio; Moss, Timothy; Erwin, Angelika; Eng, Charis
Journal:
Clinical and translational science
Issue:
Volume 11:Issue 1(2018)
Page Start:
71
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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7. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
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