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Integrating nutrition and genetic counseling: A case study approach to interprofessional learning.
Published in:
Journal of Genetic Counseling, 2024, v. 33, n. 1, p. 244, doi. 10.1002/jgc4.1846
By:
- Cratsenberg, Drew M.;
- Jackson, Mariah K.;
- Hanson, Corrine K.;
- Zimmerman, Holly H.
Publication type:
Article
Telehealth genetic services during the COVID‐19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 5, p. 1233, doi. 10.1002/jgc4.1507
By:
- Rezich, Brianna M.Z.;
- Malone, Jaime A.;
- Reiser, Gwen;
- Zimmerman, Holly H.;
- Blase, Terri L.;
- Fishler, Kristen P.
Publication type:
Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Published in:
2017
By:
- Haicui Wang;
- Salter, Claire G.;
- Refai, Osama;
- Hardy, Holly;
- Barwick, Katy E. S.;
- Akpulat, Ugur;
- Kvarnung, Malin;
- Chioza, Barry A.;
- Harlalka, Gaurav;
- Taylan, Fulya;
- Sejersen, Thomas;
- Wright, Jane;
- Zimmerman, Holly H.;
- Karakaya, Mert;
- Stüve, Burkhardt;
- Weis, Joachim;
- Schara, Ulrike;
- Russell, Mark A.;
- Abdul-Rahman, Omar A.;
- Chilton, John
Publication type:
journal article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
By:
- Abrams, Alexander J;
- Ahmed, Zubair M;
- Antonellis, Anthony;
- Zimmerman, Holly H;
- Abdul-Rahman, Omar A;
- Yang, Yaping;
- Downes, Susan M;
- Fontanesi, Flavia;
- Barrientos, Antonio;
- Németh, Andrea H;
- Hufnagel, Robert B;
- Sund, Kristen L;
- Wang, Xinjian;
- Krueger, Laura A;
- Peng, Yanyan;
- Prada, Carlos E;
- Prows, Cynthia A;
- Schorry, Elizabeth K;
- Huang, Taosheng;
- Rebelo, Adriana
Publication type:
Article
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1216, doi. 10.1038/ejhg.2010.96
By:
- Carr, Christopher W.;
- Moreno-De-Luca, Daniel;
- Parker, Colette;
- Zimmerman, Holly H.;
- Ledbetter, Nikki;
- Martin, Christa Lese;
- Dobyns, William B.;
- Abdul-Rahman, Omar A.
Publication type:
Article
Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2186, doi. 10.1002/ajmg.a.34226
By:
- Veerapandiyan, Aravindhan;
- Abdul-Rahman, Omar A.;
- Adam, Margaret P.;
- Lyons, Michael J.;
- Manning, Melanie;
- Coleman, Karlene;
- Kobrynski, Lisa;
- Taneja, Deeksha;
- Schoch, Kelly;
- Zimmerman, Holly H.;
- Shashi, Vandana
Publication type:
Article
5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1640, doi. 10.1002/ajmg.a.34059
By:
- Carr, Christopher W.;
- Zimmerman, Holly H.;
- Martin, Christa Lese;
- Vikkula, Miikka;
- Byrd, Adam C.;
- Abdul-Rahman, Omar A.
Publication type:
Article
Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective.
Published in:
Journal of Child Neurology, 2011, v. 26, n. 5, p. 642, doi. 10.1177/0883073810387929
By:
- Hussain, Syed A.;
- Zimmerman, Holly H.;
- Abdul-Rahman, Omar A.;
- Hussaini, Syed M.;
- Parker, Colette C.;
- Khan, Majid
Publication type:
Article
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2270, doi. 10.1002/humu.23841
By:
- Frints, Suzanna G.M.;
- Hennig, Friederike;
- Colombo, Roberto;
- Jacquemont, Sebastien;
- Terhal, Paulien;
- Zimmerman, Holly H.;
- Hunt, David;
- Mendelsohn, Bryce A.;
- Kordaß, Ulrike;
- Webster, Richard;
- Sinnema, Margje;
- Abdul‐Rahman, Omar;
- Suckow, Vanessa;
- Fernández‐Jaén, Alberto;
- Roozendaal, Kees;
- Stevens, Servi J.C.;
- Macville, Merryn V.E.;
- Al‐Nasiry, Salwan;
- Gassen, Koen;
- Utzig, Norbert
Publication type:
Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
By:
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Vögtle, F.-Nora;
- Wu-Lin Charng;
- Mulica, Patrycja;
- Rosenfeld, Jill A.;
- Gambin, Tomasz;
- Shen Gu;
- Burrage, Lindsay C.;
- Al Shamsi, Aisha;
- Penney, Samantha;
- Jhangiani, Shalini N.;
- Zimmerman, Holly H.;
- Muzny, Donna M.;
- Xia Wang;
- Jia Tang;
- Medikonda, Ravi;
- Ramachandran, Prasanna V.;
- Lee-Jun Wong;
- Boerwinkle, Eric
Publication type:
Article

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