HowardMSaalMD

PubMed

• 4 citations
  Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
  Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, John Philips, Natalie Owen, Carlos A Bacino, Louise Tofts, Joel Charrow, Lynda E Polgre...> ;Genetics in Medicine. 2022 Dec 1
• 2 citations
  Robin sequence without cleft palate: Genetic diagnoses and management implications.
  K. Nicole Weaver, Bonnie Sullivan, Stephanie A. Balow, Sara Hopkin, Barbara A. Chini, Brian S. Pan, Rolf W. Stottmann, Patricia L. Bender, Robert J. Hopkin, Xue Zhang,...> ;American Journal of Medical Genetics. Part A. 2021 Sep 27
• 28 citations
  Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Genetics in Medicine. 2021 Aug 2
• 5 citations
  Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
  Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W. Stottmann, Howard M. Saal, K. Nicole Weaver> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 2 citations
  Fetal Micrognathia and Airway Establishment on Placental Support.
  Stefanie Riddle, Foong-Yen Lim, Michael J. Rutter, Howard M. Saal, Paul S. Kingma> ;Neoreviews. 2021 Jan 1
• 4 citations
  Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?
  Amelle Shillington, Martine Lamy, Marissa Vawter-Lee, Craig A. Erickson, Howard M. Saal, Davide Comoletti, Katherine Abell> ;Journal of Autism and Developmental Disorders. 2021 Jan 1
• 3 citations
  CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia
  Brittany N. Simpson, Divya Khattar, Howard M. Saal, Carlos E. Prada, Daniel I. Choo, Lucy Marcheschi, Susan Wiley, Robert J. Hopkin> ;European Journal of Medical Genetics. 2021 Jan 1
• 1 citations
  Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes
  Katherine Abell, Leandra K. Tolusso, Nicki Smith, Robert J. Hopkin, Marissa Vawter-Lee, Mounira Habli, Stefanie Riddle, Maria A. Calvo-Garcia, Qiaoning Guan, Karin S. ...> ;Birth Defects Research. 2020 Sep 15
• 6 citations
  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations
  Virginia Miraldi Utz, Diana S Brightman, Monica A Sandoval, Robert B. Hufnagel, Howard M. Saal> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020 Sep 5
• 65 citations
  Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Lancet. 2020 Sep 5
• 1 citations
  Characterization of tracheobronchomalacia in infants with hypophosphatasia.
  Raja Padidela, Robert Yates, Dan Benscoter, Gary L. McPhail, Elaine Chan, Jaya Nichani, M Zulf Mughal, Charles M. Myer, Omendra Narayan, Claire Nissenbaum, Stuart Wilk...> ;Orphanet Journal of Rare Diseases. 2020 Aug 6
• 4 citations
  Silver-Russell Syndrome
  Howard M. Saal, Madeleine D. Harbison, Irène Netchine> ;Headache: The Journal of Head and Face Pain. 2019 Oct 21
• 7 citations
  Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
  Bianca E Russell, Diana Rigueur, Kathryn Nicole Weaver, Kristen L. Sund, Janet S Basil, Robert B. Hufnagel, Cynthia A. Prows, Lihadh Al-Gazali, Robert J. Hopkin, Howar...> ;Molecular Genetics & Genomic Medicine. 2019 Sep 7
• 1 citations
  The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia
  Syed Amir Zaidi, Howard M. Saal, Alberto J. Espay, Andrew P. Duker> ;Journal of the Neurological Sciences. 2019 Jun 13
• 5 citations
  Using human sequencing to guide craniofacial research.
  Ryan P. Liegel, Erin Finnerty, Lauren E. Blizzard, Andrew DiStasio, Robert B. Hufnagel, Howard M. Saal, Kristen L. Sund, Cynthia A. Prows, Rolf W. Stottmann> ;Genesis. 2019 Jan 1
• 3 citations
  Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
  Beth M. Kline-Fath, Arnold C. Merrow, Maria A. Calvo-Garcia, Usha D. Nagaraj, Howard M. Saal> ;Pediatric Radiology. 2018 Mar 14
• 3 citations
  Family History Collection Practices: National Survey of Pediatric Primary Care Providers:
  Beth A. Tarini, Michele C. Gornick, Brian J. Zikmund-Fisher, Howard M. Saal, Laurie Edmondson, Wendy R. Uhlmann> ;Clinical Pediatrics. 2018 May 1
• 66 citations
  Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
  Priya S. Kishnani, Eric T. Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William D. Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E. Nunes, Howard M. Saa...> ;Molecular Genetics and Metabolism. 2017 Sep 1
• 120 citations
  Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report
  Corstiaan C. Breugem, Kelly N. Evans, Christian F. Poets, Sunjay Suri, Arnaud Picard, Charles Filip, Emma C. Paes, Felicity V. Mehendale, Howard M. Saal, Hanneke Basar...> ;JAMA Pediatrics. 2016 Sep 1
• 16 citations
  Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
  Paula Ocaranza, Marjorie C. Golekoh, Shayne Andrew, Michael H. Guo, Paul B. Kaplowitz, Howard M. Saal, Ron G. Rosenfeld, Andrew Dauber, Fernando Cassorla, Philippe Bac...> ;Hormone Research in Paediatrics. 2017 Jan 1
• 17 citations
  Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
  Florian Job, Shuji Mizumoto, Laurie G. Smith, Natario L. Couser, Ashley Brazil, Howard M. Saal, Melanie Patterson, Margaret Gibson, Sarah E Soden, Neil A. Miller, Isab...> ;BMC Medical Genetics. 2016 Nov 21
• 5 citations
  Genetic Evaluation for Craniofacial Conditions.
  Howard M. Saal> ;Facial Plastic Surgery Clinics of North America. 2016 Nov 1
• 85 citations
  The Koolen-de Vries syndrome : A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
  David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra-Knol, Essie H. Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah L. Dugan, Sa...> ;European Journal of Human Genetics. 2016 May 1
• 60 citations
  Retrospective Study of Obesity in Children with Down Syndrome
  Janet S. Basil, Stephanie L. Santoro, Lisa J. Martin, Katherine Wusik Healy, Barbara A. Chini, Howard M. Saal> ;The Journal of Pediatrics. 2016 Jun 1
• 30 citations
  Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
  Jacek Gronwald, Karen Glass, Barry P. Rosen, Beth Y. Karlan, Nadine Tung, Susan L. Neuhausen, Pål Møller, Peter Ainsworth, Ping Sun, Steven A. Narod, Jan Lubinski, Joa...> ;Fertility and Sterility. 2016 Mar 1
• Join now to see all