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Dr Jacqueline Noonan—Our hero.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2823, doi. 10.1002/ajmg.a.61959
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Cover Image, Volume 182A, Number 12, December 2020.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. i, doi. 10.1002/ajmg.a.61500
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2816, doi. 10.1002/ajmg.a.61954
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Jacqueline A. Noonan.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2820, doi. 10.1002/ajmg.a.61925
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Reevaluating the Evolution of Lactase Persistence.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2814, doi. 10.1002/ajmg.a.61953
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- Article
Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3052, doi. 10.1002/ajmg.a.61900
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- Article
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3071, doi. 10.1002/ajmg.a.61881
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Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2988, doi. 10.1002/ajmg.a.61880
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Diversity, inclusion and equity in medical genetics: The time is now.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899
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Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3040, doi. 10.1002/ajmg.a.61898
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Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3035, doi. 10.1002/ajmg.a.61897
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Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3029, doi. 10.1002/ajmg.a.61896
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Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3074, doi. 10.1002/ajmg.a.61887
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Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
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Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3064, doi. 10.1002/ajmg.a.61892
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Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2951, doi. 10.1002/ajmg.a.61893
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Maximizing the value of human biospecimens: Lessons from coronavirus and the Seattle flu study.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2826, doi. 10.1002/ajmg.a.61891
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Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3023, doi. 10.1002/ajmg.a.61890
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Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2994, doi. 10.1002/ajmg.a.61882
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PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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Rubinstein–Taybi syndrome in diverse populations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
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Recommended measures for the efficient care of patients with genetic disorders during the COVID‐19 pandemic in low and middle income countries.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2841, doi. 10.1002/ajmg.a.61879
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Diagnosis of Chediak Higashi disease in a 67‐year old woman.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
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Further delineation of HIDEA syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2926, doi. 10.1002/ajmg.a.61883
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COVID‐19 and lymphangioleiomyomatosis: Experience at a reference center and the potential impact of the use of mTOR inhibitors.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3068, doi. 10.1002/ajmg.a.61877
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Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2909, doi. 10.1002/ajmg.a.61875
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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2982, doi. 10.1002/ajmg.a.61874
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Headaches in hypermobility syndromes: A pain in the neck?
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2902, doi. 10.1002/ajmg.a.61873
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Congenital microgastria‐limb reduction association: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2976, doi. 10.1002/ajmg.a.61872
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Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2891, doi. 10.1002/ajmg.a.61871
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Evidence of pathogenicity for the leaky splice variant c.1066‐6T>G in ATM.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2971, doi. 10.1002/ajmg.a.61870
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Sleep disordered breathing in children with Down syndrome in the Republic of Ireland.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2847, doi. 10.1002/ajmg.a.61855
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Obstructive sleep apnea in adults with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2832, doi. 10.1002/ajmg.a.61853
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The expanding spectrum of NFIB‐associated phenotypes in a diverse patient population—A report of two new patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2959, doi. 10.1002/ajmg.a.61852
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46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2887, doi. 10.1002/ajmg.a.61860
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Corrigendum.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3076, doi. 10.1002/ajmg.a.61869
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Lethal renal anomalies in a fetus with 21q22.11‐q22.12 deletion.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3060, doi. 10.1002/ajmg.a.61868
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NCCN Updates Guidelines for Hereditary Cancer Risks.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2813, doi. 10.1002/ajmg.a.61253
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- Article
Clinical characteristics of individuals with Down syndrome deceased with CoVID‐19 in Italy—A case series.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2964, doi. 10.1002/ajmg.a.61867
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Untapped opportunities for rare disease gene discovery in India.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3056, doi. 10.1002/ajmg.a.61866
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Prophylactic anticoagulation of individuals with Proteus syndrome and COVID‐19.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2829, doi. 10.1002/ajmg.a.61861
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Publication schedule for 2020.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2812, doi. 10.1002/ajmg.a.61252
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- Article
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2877, doi. 10.1002/ajmg.a.61859
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Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2867, doi. 10.1002/ajmg.a.61858
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Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857
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Wolf–Hirschhorn syndrome: A case series from India.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3048, doi. 10.1002/ajmg.a.61856
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Table of Contents, Volume 182A, Number 12, December 2020.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2807, doi. 10.1002/ajmg.a.61251
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- Article