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Author/Creator Sheppard, Sarah E.

2. Cover Image, Volume 176A, Number 10, October 2018. Issue 10 (31st October 2018)

Authors:
Campbell, Ian M.; Sheppard, Sarah E.; Crowley, T. Blaine; McGinn, Daniel E.; Bailey, Alice; McGinn, Michael J.; Unolt, Marta; Homans, Jelle F.; Chen, Erin Y.; Salmons, Harold I.; Gaynor, J. William; Goldmuntz, Elizabeth; Jackson, Oksana A.; Katz, Lorraine E.; Mascarenhas, Maria R.; Deeney, Vincen...
Other Names:
McDonald‐McGinn Donna M. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 10(2018)
Page Start:
i
Record Type:
Journal Article
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3. Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. Issue 5 (12th January 2021)

Authors:
Li, Dong; Sheppard, Sarah E.; Peroutka, Christina; Barnes, Caitlin; Reid, Janet R.; Smith, Christopher L.; Dori, Yoav; Hakonarson, Hakon
Journal:
Clinical genetics
Issue:
Volume 99:Issue 5(2021)
Page Start:
742
Record Type:
Journal Article
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4. 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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5. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. Issue 4 (21st January 2020)

Authors:
Sheppard, Sarah E.; Smith, Anna; Grand, Katheryn; Pogoriler, Jennifer; Rubin, Adam I.; Schindewolf, Erica; Fitzgerald, Mark P.; Moldenhauer, Julie; Laje, Pablo; Peranteau, William; Bhoj, Elizabeth; McMahon, Patrick; Castelo‐Soccio, Leslie
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
746
Record Type:
Journal Article
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7. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Issue 6 (20th March 2019)

Authors:
Banka, Siddharth; Sayer, Rebecca; Breen, Catherine; Barton, Stephanie; Pavaine, Julija; Sheppard, Sarah E.; Bedoukian, Emma; Skraban, Cara; Cuddapah, Vishnu A; Clayton‐Smith, Jill
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
1058
Record Type:
Journal Article
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8. Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. Issue 2 (30th November 2020)

Authors:
Sheppard, Sarah E.; Barrett, Brett; Muraresku, Colleen; McKnight, Heather; De Leon, Diva D.; Lord, Katherine; Ganetzky, Rebecca
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 2(2021)
Page Start:
566
Record Type:
Journal Article
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