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Author/Creator McDonald, Marie T.

1. A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia123. Issue 1 (13th December 2012)

Authors:
Montgomery, Nathan D.; Turcott, Christie M.; Tepperberg, James H.; McDonald, Marie T.; Aylsworth, Arthur S.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
198
Record Type:
Journal Article
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3. CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Issue 3 (3rd December 2019)

Authors:
Mizumoto, Shuji; Janecke, Andreas R.; Sadeghpour, Azita; Povysil, Gundula; McDonald, Marie T.; Unger, Sheila; Greber‐Platzer, Susanne; Deak, Kristen L.; Katsanis, Nicholas; Superti‐Furga, Andrea; Sugahara, Kazuyuki; Davis, Erica E.; Yamada, Shuhei; Vodopiutz, Julia
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
655
Record Type:
Journal Article
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4. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Issue 6 (1st May 2015)

Authors:
Esmaeeli Nieh, Sahar; Madou, Maura R. Z.; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E.; Smaoui, Nizar; Pappas, John G.; Burrow, Thomas A.; McDonald, Marie T.; Latibashvili, Mariam; Leshinsky‐Silver, Esther...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 6(2015:Jun.)
Page Start:
623
Record Type:
Journal Article
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6. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Issue 6 (12th April 2013)

Authors:
Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kath...
Journal:
Human mutation
Issue:
Volume 34:Issue 6(2013:Jun.)
Page Start:
801
Record Type:
Journal Article
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7. Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. Issue 5 (20th March 2017)

Authors:
Louie, Raymond J.; Tan, Queenie K.‐G.; Gilner, Jennifer B.; Rogers, R. Curtis; Younge, Noelle; Wechsler, Stephanie B.; McDonald, Marie T.; Gordon, Barbara; Saski, Christopher A.; Jones, Julie R.; Chapman, Shelley J.; Stevenson, Roger E.; Sleasman, John W.; Friez, Michael J.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1219
Record Type:
Journal Article
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