Response to Hamosh et al

Leslie G Biesecker¹, Margaret P Adam², Fowzan S Alkuraya³, Anne R Amemiya⁴, Michael J Bamshad⁵, Anita E Beck⁶, James T Bennett⁷, Lynne M Bird⁸, John C Carey⁹, Brian Chung¹⁰, Robin D Clark¹¹, Timothy C Cox¹², Cynthia Curry¹³, Mary Beth Palko Dinulos¹⁴, William B Dobyns¹⁵, Philip F Giampietro¹⁶, Katta M Girisha¹⁷, Ian A Glass¹⁸, John M Graham Jr¹⁹, Karen W Gripp²⁰, Chad R Haldeman-Englert²¹, Bryan D Hall²², A Micheil Innes²³, Jennifer M Kalish²⁴, Kim M Keppler-Noreuil²⁵, Kenjiro Kosaki²⁶, Beth A Kozel²⁷, Ghayda M Mirzaa²⁸, John J Mulvihill²⁹, Malgorzata J M Nowaczyk³⁰, Roberta A Pagon², Kyle Retterer³¹, Alan F Rope³², Pedro A Sanchez-Lara³³, Laurie H Seaver³⁴, Joseph T Shieh³⁵, Anne M Slavotinek³⁵, Andrew K Sobering³⁶, Cathy A Stevens³⁷, David A Stevenson³⁸, Tiong Yang Tan³⁹, Wen-Hann Tan⁴⁰, Anne C Tsai⁴¹, David D Weaver⁴², Marc S Williams⁴³, Elaine Zackai⁴⁴, Yuri A Zarate⁴⁵

Affiliations

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.
² Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
³ Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
⁴ Computercraft Corporation, McLean, VA 20005, USA.
⁵ Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
⁶ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.
⁷ Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
⁸ Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
⁹ Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
¹⁰ Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.
¹¹ Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.
¹² Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.
¹³ Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.
¹⁴ The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.
¹⁵ Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
¹⁶ University of Illinois College of Medicine, Chicago, IL 60612, USA.
¹⁷ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
¹⁸ Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
¹⁹ Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
²⁰ Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.
²¹ Mission Fullerton Genetics Center, Asheville, NC 28803, USA.
²² Greenwood Genetic Center, Greenwood, SC 29646, USA.
²³ Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
²⁴ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
²⁵ Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.
²⁶ Keio University School of Medicine, Tokyo 160-8582, Japan.
²⁷ Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
²⁸ Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
²⁹ University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.
³⁰ Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.
³¹ GeneDx, Gaithersburg, MD 20877, USA.
³² Genome Medical, South San Francisco, CA 94080, USA.
³³ Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.
³⁴ Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.
³⁵ Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.
³⁶ Augusta University/University of Georgia Athens, Medical Partnership, Athens, GA 30606, USA.
³⁷ Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.
³⁸ Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.
³⁹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
⁴⁰ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
⁴¹ Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
⁴² Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.
⁴³ Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
⁴⁴ Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.
⁴⁵ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

PMID: 34478656
PMCID: PMC8456172
DOI: 10.1016/j.ajhg.2021.07.006

Comment

Response to Hamosh et al

Leslie G Biesecker et al. Am J Hum Genet. 2021.

. 2021 Sep 2;108(9):1809-1810.

doi: 10.1016/j.ajhg.2021.07.006.

Authors

Affiliations

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.
² Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
³ Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
⁴ Computercraft Corporation, McLean, VA 20005, USA.
⁵ Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
⁶ Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.
⁷ Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
⁸ Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
⁹ Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
¹⁰ Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.
¹¹ Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.
¹² Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.
¹³ Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.
¹⁴ The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.
¹⁵ Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
¹⁶ University of Illinois College of Medicine, Chicago, IL 60612, USA.
¹⁷ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
¹⁸ Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
¹⁹ Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
²⁰ Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.
²¹ Mission Fullerton Genetics Center, Asheville, NC 28803, USA.
²² Greenwood Genetic Center, Greenwood, SC 29646, USA.
²³ Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
²⁴ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
²⁵ Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.
²⁶ Keio University School of Medicine, Tokyo 160-8582, Japan.
²⁷ Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
²⁸ Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
²⁹ University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.
³⁰ Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.
³¹ GeneDx, Gaithersburg, MD 20877, USA.
³² Genome Medical, South San Francisco, CA 94080, USA.
³³ Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.
³⁴ Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.
³⁵ Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.
³⁶ Augusta University/University of Georgia Athens, Medical Partnership, Athens, GA 30606, USA.
³⁷ Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.
³⁸ Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.
³⁹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
⁴⁰ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
⁴¹ Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
⁴² Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.
⁴³ Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
⁴⁴ Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.
⁴⁵ Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

PMID: 34478656
PMCID: PMC8456172
DOI: 10.1016/j.ajhg.2021.07.006

No abstract available

PubMed Disclaimer

Comment on

A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
Response to Biesecker et al.
Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Hamosh A, et al. Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004. Am J Hum Genet. 2021. PMID: 34478655 Free PMC article. No abstract available.

References

1. Biesecker L.G., Adam M.P., Alkuraya F.S., Amemiya A.R., Bamshad M.J., Beck A.E., Bennett J.T., Bird L.M., Carey J.C., Chung B. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am. J. Hum. Genet. 2021;108:8–15. - PMC - PubMed
1. Spranger J., Benirschke K., Hall J.G., Lenz W., Lowry R.B., Opitz J.M., Pinsky L., Schwarzacher H.G., Smith D.W. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J. Pediatr. 1982;100:160–165. - PubMed
1. Hennekam R.C., Biesecker L.G., Allanson J.E., Hall J.G., Opitz J.M., Temple I.K., Carey J.C., Elements of Morphology Consortium Elements of morphology: general terms for congenital anomalies. Am. J. Med. Genet. A. 2013;161A:2726–2733. - PubMed
1. Box G.E.P. In: Robustness in Statistics: Proceedings of a Workshop. Launer R., Wilkinson G., editors. Academic Press; 1979. Robustness in the Strategy of Scientific Model Building; pp. 201–236.
1. Canguilhem G. Zone Books; New York: 1989. The normal and the pathological.

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Response to Hamosh et al

Affiliations

Response to Hamosh et al

Authors

Affiliations

Comment on

References

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