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Author/Creator Harr, Margaret H.

1. CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues. Issue 8 (15th May 2017)

Authors:
Luo, Minjie; Fan, Jinbo; Wenger, Tara L.; Harr, Margaret H.; Racobaldo, Melissa; Mulchandani, Surabhi; Dubbs, Holly; Zackai, Elaine H.; Spinner, Nancy B.; Conlin, Laura K.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2101
Record Type:
Journal Article
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2. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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4. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. (25th June 2015)

Authors:
Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret H.; Tian, Lifeng; Wang, Tiancheng; Zhao, Yan; Qiu, Haijun; Kim, Cecilia; Hoffman, Jodi D.; Hakonarson, Hakon; Zackai, Elaine H.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2497
Record Type:
Journal Article
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5. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015)

Authors:
Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G...
Journal:
Human mutation
Issue:
Volume 37:Issue 2(2016)
Page Start:
148
Record Type:
Journal Article
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6. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
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7. The Reckoning: The Return of Genomic Results to 1444 Participants Across the eMERGE3 Network. Issue 11 (November 2022)

Authors:
Leppig, Kathleen A.; Rahm, Alanna Kulchak; Appelbaum, Paul; Aufox, Sharon; Bland, Sarah T.; Buchanan, Adam; Christensen, Kurt D.; Chung, Wendy K.; Clayton, Ellen Wright; Crosslin, David; Denny, Josh; DeVange, Shannon; Gordon, Adam; Green, Robert C.; Hakonarson, Hakon; Harr, Margaret H.; Henrikson...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 77:Issue 11(2022)
Page Start:
644
Record Type:
Journal Article
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