Publications by authors named "Alan Shanske"

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Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Alan L Shanske

J Med Genet· August 2025

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Absent sella turcica: a case report and a review of the literature.
Viktoriya Paroder, Todd Miller, M Michael Cohen, Alan Lawrence Shanske

Fetal Pediatr Pathol· October 2013

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Letter to the editor: Hidden pituitary gland: implications for assessment.
Viktoriya Paroder, Todd Miller, Alan L Shanske, Kohei Shiota, Muhammad Naeem Khan

Am J Med Genet A· March 2013

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Sean B Herman, Tingwei Guo, Donna M McDonald McGinn, Anna Blonska, Alan L Shanske

Am J Med Genet A· November 2012

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Alan Shanske

Genet Med· September 2012

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Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.
Alan L Shanske

AIDS· September 2012

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Germline mosacism in Shprintzen-Goldberg syndrome.
Alan L Shanske, James T Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick

Am J Med Genet A· July 2012

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A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis.
Alan Lawrence Shanske, James Tait Goodrich, Leena Ala-Kokko, Brynn Levy

Clin Dysmorphol· April 2012

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Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Karen Mitchell, James O'Sullivan, Caterina Missero, Ed Blair, Rose Richardson, Alan L Shanske

Am J Hum Genet· January 2012

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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S Bassett

Hum Mutat· November 2011

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The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Edina Torgyekes, Alan L Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh

Am J Med Genet A· August 2011

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Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Nicholas K Rorick, Akira Kinoshita, Jason L Weirather, Myriam Peyrard-Janvid, Renata L L Ferreira de Lima, Alan L Shanske

Am J Med Genet A· June 2011

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Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Emily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, Benjamin D Solomon, Amalia Dutra, Alan L Shanske

Mol Genet Metab· April 2011

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Interparietal bone (Os Incae) in craniosynostosis.
June K Wu, James T Goodrich, Chiemezie C Amadi, Todd Miller, John B Mulliken, Alan L Shanske

Am J Med Genet A· February 2011

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Introductory comments on special section-new developments in craniofacial biology: putting on a happy face.
Alan L Shanske

Am J Med Genet A· December 2010

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Retinoid signaling in inner ear development: A "Goldilocks" phenomenon.
Dorothy A Frenz, Wei Liu, Ales Cvekl, Qing Xie, Lesley Wassef, Alan Shanske

Am J Med Genet A· December 2010

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Accelerated spirometric decline in New York City firefighters with α₁-antitrypsin deficiency.
Gisela I Banauch, Mark Brantly, Gabriel Izbicki, Charles Hall, Alan Shanske

Chest· November 2010

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Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
Dennis C Monks, Arthee Jahangir, Alan L Shanske, Joy Samanich, Bernice E Morrow

Int J Pediatr Otorhinolaryngol· August 2010

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Cervical vascular and upper airway asymmetry in Velo-cardio-facial syndrome: correlation of nasopharyngoscopy with MRA.
Avi G Oppenheimer, Susan Fulmer, Keivan Shifteh, Ja-Kwei Chang, Allan Brook, Alan L Shanske

Int J Pediatr Otorhinolaryngol· June 2010

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GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
Jidong Shan, Janie Chobot-Rodd, Raquel Castellanos, Melanie Babcock, Alan Shanske

Int J Pediatr Otorhinolaryngol· June 2010

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Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature.
Alan L Shanske, Naomi Yachelevich, Leena Ala-Kokko, Jay Leonard, Brynn Levy

Am J Med Genet A· January 2010

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Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J Hannon, Alan L Shanske

Am J Hum Genet· January 2010

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Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
Michelle Yadegari, Michael P Whyte, Steven Mumm, Robert G Phelps, Alan Shanske

Arch Dermatol· January 2010

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Mosaicism in Marshall syndrome.
Leena Ala-Kokko, Alan L Shanske

Am J Med Genet A· June 2009

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Mesiodens, a new microform of holoprosencephaly?
Man Yee Chan, Keivan Shifteh, Alan L Shanske

Am J Med Genet A· February 2009

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