BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

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Title: BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Authors: Johnatty SE; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Tudini E; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Parsons MT; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Michailidou K; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus., Zanti M; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus., Canson DM; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Davidson AL; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Berger T; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Rosti RO; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kalb R; Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Surrallés J; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain., Pujol R; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain., Vundinti BR; ICMR-National Institute of Immunohaematology, Mumbai, India., George M; ICMR-National Institute of Immunohaematology, Mumbai, India., Maxwell KN; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Nathanson K; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Domchek S; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Fiesco-Roa MÓ; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM, Mexico City, Mexico., Frias S; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico., García-de-Teresa B; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico., Jongmans M; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Maiburg M; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK., Robinson R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Blok LS; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia., Tucker K; Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Auerbach AD; Human Genetics and Hematology Program, the Rockefeller University, New York, NY, USA., Cancio MI; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Kennedy JA; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., MacMillan ML; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Tryon R; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA; Department of Genetics, M Health Fairview, Minneapolis, MN, USA., Wagner JE; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Walsh M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Boddicker NJ; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Weitzel JN; University of Kansas Cancer Center, Kansas City, KS, USA., Dingemans AJM; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Hadler J; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Rotenberg N; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia., Ramadane-Morchadi L; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., James P; Sir Peter MacCallum Department of Oncology, the University of Melbourne, Melbourne, VIC, Australia., Van Overeem Hansen T; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Sharan SK; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA., Easton DF; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK; Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Smogorzewska A; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA., Nelson A; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Ngeow J; Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore; Cancer Genetics Service, National Cancer Center, Singapore, Singapore., Tischkowitz M; Department of Genomic Medicine, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Gomez-Garcia E; Maastricht University, Maastricht, the Netherlands., Spurdle AB; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au.
Corporate Authors: CARRIERS Consortium; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Breast Cancer Association Consortium; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., ENIGMA Consortium; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.
Source: American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2902-2921. Date of Electronic Publication: 2025 Oct 30.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
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  Data: <searchLink fieldCode="AU" term="%22Johnatty+SE%22">Johnatty SE</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Tudini+E%22">Tudini E</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Parsons+MT%22">Parsons MT</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Michailidou+K%22">Michailidou K</searchLink>; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Zanti+M%22">Zanti M</searchLink>; Biostatistics Unit, the Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Canson+DM%22">Canson DM</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Davidson+AL%22">Davidson AL</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Berger+T%22">Berger T</searchLink>; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rosti+RO%22">Rosti RO</searchLink>; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kratz+CP%22">Kratz CP</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Kalb+R%22">Kalb R</searchLink>; Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22McReynolds+LJ%22">McReynolds LJ</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Giri+N%22">Giri N</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Richardson+ME%22">Richardson ME</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pesaran+T%22">Pesaran T</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Surrallés+J%22">Surrallés J</searchLink>; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pujol+R%22">Pujol R</searchLink>; Institut de Recerca Sant Pau (IR Sant Pau), Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vundinti+BR%22">Vundinti BR</searchLink>; ICMR-National Institute of Immunohaematology, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22George+M%22">George M</searchLink>; ICMR-National Institute of Immunohaematology, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Maxwell+KN%22">Maxwell KN</searchLink>; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Nathanson+K%22">Nathanson K</searchLink>; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Domchek+S%22">Domchek S</searchLink>; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Fiesco-Roa+MÓ%22">Fiesco-Roa MÓ</searchLink>; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Frias+S%22">Frias S</searchLink>; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico; Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22García-de-Teresa+B%22">García-de-Teresa B</searchLink>; Laboratorio de Citogenética, Instituto Nacional de Pediatría (INP), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Jongmans+M%22">Jongmans M</searchLink>; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lalani+S%22">Lalani S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Maiburg+M%22">Maiburg M</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Prescott+K%22">Prescott K</searchLink>; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Robinson+R%22">Robinson R</searchLink>; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Rajagopalan+S%22">Rajagopalan S</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Blok+LS%22">Blok LS</searchLink>; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Temple+SEL%22">Temple SEL</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Tucker+K%22">Tucker K</searchLink>; Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Auerbach+AD%22">Auerbach AD</searchLink>; Human Genetics and Hematology Program, the Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Cancio+MI%22">Cancio MI</searchLink>; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kennedy+JA%22">Kennedy JA</searchLink>; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22MacMillan+ML%22">MacMillan ML</searchLink>; Division of Pediatric Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Tryon+R%22">Tryon R</searchLink>; 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University of Kansas Cancer Center, Kansas City, KS, USA.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hadler+J%22">Hadler J</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Rotenberg+N%22">Rotenberg N</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Ramadane-Morchadi+L%22">Ramadane-Morchadi L</searchLink>; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Hoya+M%22">Hoya M</searchLink>; Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22James+P%22">James P</searchLink>; Sir Peter MacCallum Department of Oncology, the University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Van+Overeem+Hansen+T%22">Van Overeem Hansen T</searchLink>; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Vreeswijk+MPG%22">Vreeswijk MPG</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Walker+LC%22">Walker LC</searchLink>; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.<br /><searchLink fieldCode="AU" term="%22Sharan+SK%22">Sharan SK</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA.<br /><searchLink fieldCode="AU" term="%22Easton+DF%22">Easton DF</searchLink>; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK; Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Couch+F%22">Couch F</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Smogorzewska+A%22">Smogorzewska A</searchLink>; Laboratory of Genome Maintenance, the Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Nelson+A%22">Nelson A</searchLink>; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ngeow+J%22">Ngeow J</searchLink>; Population and Global Health, Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore; Cancer Genetics Service, National Cancer Center, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Tischkowitz+M%22">Tischkowitz M</searchLink>; Department of Genomic Medicine, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Gomez-Garcia+E%22">Gomez-Garcia E</searchLink>; Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Spurdle+AB%22">Spurdle AB</searchLink>; Population Health Program, QIMR Berghofer, Brisbane, QLD, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2902-2921. <i>Date of Electronic Publication: </i>2025 Oct 30.
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      – TitleFull: BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
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            NameFull: Auerbach AD
      – PersonEntity:
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            NameFull: Cancio MI
      – PersonEntity:
          Name:
            NameFull: Kennedy JA
      – PersonEntity:
          Name:
            NameFull: MacMillan ML
      – PersonEntity:
          Name:
            NameFull: Tryon R
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      – PersonEntity:
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            NameFull: Walsh M
      – PersonEntity:
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      – PersonEntity:
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            NameFull: Hu C
      – PersonEntity:
          Name:
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      – PersonEntity:
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            NameFull: Dingemans AJM
      – PersonEntity:
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            NameFull: Hadler J
      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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            NameFull: Smogorzewska A
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    IsPartOfRelationships:
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          Dates:
            – D: 04
              M: 12
              Text: 2025 Dec 04
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 12
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
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