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Author/Creator Skraban, Cara

2. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Issue 4 (15th February 2018)

Authors:
Pinz, Hailey; Pyle, Louise C.; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R.; Telegrafi, Aida; Monaghan, Kristin G.; Zackai, Elaine; Bhoj, Elizabeth J.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
969
Record Type:
Journal Article
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3. Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes. Issue 12 (6th August 2021)

Authors:
Strong, Alanna; Skraban, Cara; Meyers, Kevin; Amaral, Sandra; Furth, Susan; Drant, Stacey; Hsiao, Wendy; Galea, Lauren; Gold, Jessica; Gold, Nina B.; Leonard, Jacqueline; Lopez, Sonya; Zackai, Elaine H.; Pyeritz, Reed E.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3762
Record Type:
Journal Article
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4. Expanding the reproductive organ phenotype of CHD7‐spectrum disorder. Issue 5 (16th February 2023)

Authors:
Nomakuchi, Tomoki T.; Danowitz, Melinda; Stewart, Blythe; Leonard, Jacqueline; Izumi, Kosuke; Krantz, Ian; Kolon, Thomas F.; Langdon, David; Skraban, Cara; Van Batavia, Jason; Zackai, Elaine; Jiao, Kai; Linn, Rebecca; Alexander, Caitlin; Zaontz, Mark; Vogiatzi, Maria G.; Pyle, Louise C.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1418
Record Type:
Journal Article
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5. 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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6. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Issue 2 (14th January 2021)

Authors:
Bedoukian, Emma C.; Rentas, Stefan; Skraban, Cara; Shao, Qing; Treat, James; Laird, Dale W.; Sullivan, Kathleen E.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 2(2021)
Page Start:
n/a
Record Type:
Journal Article
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7. Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital. Issue 9 (27th August 2018)

Authors:
Ritter, Alyssa L.; McDougall, Carey; Skraban, Cara; Medne, Livija; Bedoukian, Emma C.; Asher, Stephanie B.; Balciuniene, Jorune; Campbell, Colleen D.; Baker, Samuel W.; Denenberg, Elizabeth H.; Mazzola, Sarah; Fiordaliso, Sarah K.; Krantz, Ian D.; Kaplan, Paige; Ierardi‐Curto, Lynne; Santani, Avn...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1890
Record Type:
Journal Article
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