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Author/Creator Rosenfeld, Jill

1. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. Issue 7 (2nd May 2017)

Authors:
Cheng, Andrew; Dinulos, Mary Beth P.; Neufeld‐Kaiser, Whitney; Rosenfeld, Jill; Kyriss, McKenna; Madan‐Khetarpal, Suneeta; Risheg, Hiba; Byers, Peter H.; Liu, Yajuan J.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1848
Record Type:
Journal Article
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2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
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3. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017)

Authors:
Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 24(2017:Dec. 15)
Page Start:
4937
Record Type:
Journal Article
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4. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Issue 1 (December 2016)

Authors:
Charng, Wu-Lin; Karaca, Ender; Coban Akdemir, Zeynep; Gambin, Tomasz; Atik, Mehmed; Gu, Shen; Posey, Jennifer; Jhangiani, Shalini; Muzny, Donna; Doddapaneni, Harsha; Hu, Jianhong; Boerwinkle, Eric; Gibbs, Richard; Rosenfeld, Jill; Cui, Hong; Xia, Fan; Manickam, Kandamurugu; Yang, Yaping; Faqeih, ...
Journal:
BMC medical genomics
Issue:
Volume 9:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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5. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

Authors:
Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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6. POGZ truncating alleles cause syndromic intellectual disability. Issue 1 (December 2016)

Authors:
White, Janson; Beck, Christine; Harel, Tamar; Posey, Jennifer; Jhangiani, Shalini; Tang, Sha; Farwell, Kelly; Powis, Zöe; Mendelsohn, Nancy; Baker, Janice; Pollack, Lynda; Mason, Kati; Wierenga, Klaas; Arrington, Daniel; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdal...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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