Publications by authors named "Joe Hoo"

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KITLG mutations cause familial progressive hyper- and hypopigmentation.
Mustapha Amyere, Thomas Vogt, Joe Hoo, Flemming Brandrup, Anette Bygum

J Invest Dermatol· June 2011

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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Jill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, Blake C Ballif, Joe J Hoo, Trilochan Sahoo

Eur J Hum Genet· May 2011

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Joe J Hoo

Nat Genet· March 2010

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FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
Robin Dawn Clark, John M Graham, Michael J Friez, Joe J Hoo, Kenneth Lyons Jones

Genet Med· November 2009

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A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Antony E Shrimpton, Joe J Hoo

Eur J Med Genet· April 2009

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Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.
Joe J Hoo, Antony E Shrimpton

Am J Med Genet A· February 2008

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Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction.
Zurab Davili, Sandeep Johar, Colleen Hughes, Daniel Kveselis, Joe Hoo

Eur J Pediatr· August 2007

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"Zwilling" versus "Tai Chi" configuration of double-sized ring chromosome.
Joe J Hoo, Constance K Stein

Am J Med Genet A· April 2007

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Difficulty in recognizing multiple sulfatase deficiency in an infant.
Roberto P Santos, Joe J Hoo

Pediatrics· March 2006

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Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
Antony E Shrimpton, Kimberly A Jensen, Joe J Hoo

Am J Med Genet A· February 2006

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Familial hyper- and hypopigmentation with age-related pattern change.
Joe J Hoo, Antony E Shrimpton

Am J Med Genet A· January 2005

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Is brachydactyly type Ballard a variant of brachydactyly type E?
Kimberly Jensen, Joe J Hoo

Am J Med Genet A· August 2004

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Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
Joe J Hoo, Michael Oliphant

Am J Med Genet A· January 2003

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