Observational studyAmerican journal of medical genetics. Part A2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Erratum issuedOpen access · greenAbstract readMulticenter StudyObservational Study
In one paragraph
Observational study in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 papers.
0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed
3.7field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 68 citations in OpenAlex.
- Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant.International journal of molecular sciences · 2026Review
- Hyperprolactinemia, hyperandrogenemia, pituitary adenoma, and metabolic disorders in Wiedemann-Steiner syndrome: a case report.BMC endocrine disorders · 2026Article
- Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.Clinical epigenetics · 2026Article
- Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.Human genome variation · 2026Article
- Revisiting Wiedemann-Steiner Syndrome: NovelBalkan medical journal · 2026Article
- Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a TruncatingReports (MDPI) · 2026Article
- Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.Genome medicine · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.European journal of human genetics : EJHG · 2025Article
- In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.JCI insight · 2025Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.BMC medical genomics · 2025Article
- Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.European journal of pediatrics · 2025Article
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- KMT2A-CBL fusion gene in the first reported case of T-cell acute lymphoblastic leukemia associated with Wiedemann-Steiner syndrome.International journal of hematology · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.Orphanet journal of rare diseases · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.Children (Basel, Switzerland) · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
103 authors at 20 institutions in 9 countries.
Sarah E SheppardCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-3480-8123
Ian M CampbellCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-3749-2884
Margaret H HarrCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nina GoldMass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-0867-722X
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hans T BjornssonDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Julie S CohenDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Jill A FahrnerDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Ali FatemiDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Jacqueline R HarrisDivision of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Catherine NowakDivision of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.
Cathy A StevensDepartment of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
Katheryn GrandDivision of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
Margaret AuDivision of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.ORCID 0000-0001-8528-0387
John M GrahamDivision of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
Pedro A Sanchez-LaraDivision of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
Miguel Del CampoDivision of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
Marilyn C JonesDivision of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
Omar Abdul-RahmanMunroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.ORCID 0000-0002-1020-9989
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID 0000-0003-4158-341X
Jennifer A BassettiDivision of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
Katherine BergstromDivision of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.ORCID 0000-0002-4482-6504
Elizabeth BhojCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-5748-3507
Sarah DuganDivision of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
Julie D KaplanMunroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Nada DerarDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Karen W GrippDivision of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
Natalie HauserDivision of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.ORCID 0000-0001-7663-1851
A Micheil InnesDepartment of Medical Genetics, University of Calgary, Calgary, Canada.
Beth KeenaDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Neslida KodraDivision of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
Rebecca MillerDivision of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
Beverly NelsonDepartment of Clinical Skills, St. George's University, True Blue, Grenada.
Malgorzata J NowaczykMcMaster University, Hamilton, Canada.
Zuhair RahbeeniDepartment of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Shay Ben-ShacharGenetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Joseph T ShiehDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Anne SlavotinekDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Andrew K SoberingDepartment of Biochemistry, St. George's University, True Blue, Grenada.ORCID 0000-0002-9251-2614
Mary-Alice AbbottMedical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.
Dawn C AllainDivision of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Louise Amlie-WolfDivision of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.ORCID 0000-0003-3234-3596
Ping Yee Billie AuDepartment of Medical Genetics, University of Calgary, Calgary, Canada.
Emma BedoukianDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-3064-2488
Geoffrey BeekChildren's Hospital of Minnesota, Minneapolis, Minnesota, USA.
James BarryDivision of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.
Janet BergDivision of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.ORCID 0000-0001-5369-346X
Cheryl CytrynbaumDivision of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Brian Hon-Yin ChungDepartment of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.ORCID 0000-0002-9004-2284
Sarah DonoghueDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Naghmeh DorraniDepartment of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.
Alison EatonDepartment of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.ORCID 0000-0002-0512-0429
Josue A Flores-DaboubDivision of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.ORCID 0000-0002-9548-4188
Holly DubbsDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Carolyn A FelixDivision of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Chin-To FongDepartment of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Jasmine Lee Fong FungDepartment of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.
Balram GangaramDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Amy GoldsteinDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Rotem GreenbergGenetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Thoa K HaDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Joseph HershWeisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.
Kosuke IzumiDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-7922-7480
Staci KallishDivision of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Elijah KravetsDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Pui-Yan KwokDivision of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Rebekah K JoblingDivision of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Amy E Knight JohnsonDepartment of Human Genetics, University of Chicago, Chicago, Illinois, USA.
Jessica KushnerMolecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
Bo Hoon LeeDepartment of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.ORCID 0000-0001-9646-4018
Brooke LevinMD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.
Kristin LindstromPhoenix Children's Hospital, Phoenix, Arizona, USA.
Kandamurugu ManickamDivision of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Rebecca MardachDivision of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
Elizabeth McCormickDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
D Ross McLeodDepartment of Medical Genetics, University of Calgary, Calgary, Canada.
Frank D MentchCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Kelly MinksDepartment of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Colleen MurareskuDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Stanley F NelsonUCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.
Patrizia PorazziDepartment of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Pavel N PichurinClinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.
Nina N Powell-HamiltonDivision of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
Zoe PowisQuest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.
Alyssa RitterDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-4735-5223
Caleb RogersMolecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
Luis RohenaDivision of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.
Carey RonspiesMunroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Audrey SchroederDepartment of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Lois StarrMunroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.ORCID 0000-0002-9212-2499
Joan StolerDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Pim SuwannaratMid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.
Milen VelinovNYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.
Rosanna WeksbergDivision of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.ORCID 0000-0002-6501-4150
Yael WilnaiGenetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.
Neda ZadehGenetics Center and CHOC Children's Hospital, Orange, California, USA.
Dina J ZandRare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.
Marni J FalkDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-2814-7461
Elaine H ZackaiDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Fabiola Quintero-RiveraDepartment of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.ORCID 0000-0002-6709-6209
Children's Hospital of Philadelphia · USUniversity of California, San Francisco · USCedars-Sinai Medical Center · USNebraska Medical Center · USUniversity of California, Los Angeles · USUniversity of Rochester · USAlfred I. duPont Hospital for Children · USBrooke Army Medical Center · USInova Fairfax Hospital · USKennedy Krieger Institute · USKing Faisal Specialist Hospital & Research Centre · SARady Children's Hospital-San Diego · USUniversity of Calgary · CAUniversity of Toronto · CABoston Children's Hospital · USCornell University · USDuchess of Kent Children's Hospital · CNJohns Hopkins University · USOregon Health & Science University · USStanford University · US
Funding
NRSA Training CoreTL1TR001880 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI MEAGHER, EMMA ANNE · 2016 to 2025
$10.0MThe Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Michael Byrne Robinson · 2021 to 2026
$9.2MExploring Disrupted H3K27me3 in Mendelian Disorders of the Epigenetic Machinery and Restoring Its Balance as a Therapeutic Approach to Treat Abnormal GrowthK08HD086250 · NICHD · JOHNS HOPKINS UNIVERSITY · PI FAHRNER, JILL A · 2018 to 2023
$966kNCATS NIH HHS TL1 TR001880NICHD NIH HHS K08 HD086250NICHD NIH HHS P50 HD105354NIH HHS K08HD086250
Abstract
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.
Indexed as
Genetic Predisposition to DiseaseBlack PeopleConstipationFailure to ThriveGenetic Association StudiesGrowth DisordersHistone-Lysine N-MethyltransferaseHumansHypertrichosisIntellectual DisabilityLoss of Function MutationMyeloid-Lymphoid Leukemia ProteinRetrospective StudiesWhite PeopleHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia ProteinhypertrichosisKMT2AMLL1syndromic intellectual disabilitysyndromic short statureWiedemann-Steiner syndrome
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