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ISSN 1552-4825

1. "CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557‐2566, 2014. (5th May 2015)

Authors:
Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1682
Record Type:
Journal Article
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2. "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013)

Authors:
Narumi, Yoko; Min, Byung‐Joo; Shimizu, Kenji; Kazukawa, Itsuro; Sameshima, Kiyoko; Nakamura, Koichi; Kosho, Tomoki; Rhee, Yumie; Chung, Yoon‐Sok; Kim, Ok‐Hwa; Fukushima, Yoshimitsu; Park, Woong‐Yang; Nishimura, Gen
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2685
Record Type:
Journal Article
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6. "It's about having the choice": Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome1. Issue 1 (13th December 2012)

Authors:
Archibald, Alison D.; Hickerton, Chriselle L.; Jaques, Alice M.; Wake, Samantha; Cohen, Jonathan; Metcalfe, Sylvia A.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
48
Record Type:
Journal Article
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8. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype1. Issue 1 (14th December 2012)

Authors:
Luquetti, Daniela V.; Hing, Anne V.; Rieder, Mark J.; Nickerson, Deborah A.; Turner, Emily H.; Smith, Joshua; Park, Sarah; Cunningham, Michael L.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
108
Record Type:
Journal Article
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