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1
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035 [Peer Reviewed Journal]

2019 The Author(s) ;2019© American College of Medical Genetics and Genomics 2019 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1098-3600 ;ISSN: 1530-0366 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0445-x ;PMID: 30723320

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2
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

Pediatric research, 2015-03, Vol.77 (3), p.398-405 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2014.203 ;PMID: 25521922

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3
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in medicine, 2019-04, Vol.21 (4), p.850-860 [Peer Reviewed Journal]

ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0259-2 ;PMID: 30245513

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4
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics. ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01242-6 ;PMID: 34211152

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5
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
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Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Journal of human genetics, 2019-04, Vol.64 (4), p.313-322 [Peer Reviewed Journal]

2019© The Author(s) under exclusive licence to The Japan Society of Human Genetics 2019 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-018-0559-z ;PMID: 30655572

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6
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in medicine, 2019-11, Vol.21 (11), p.2413-2421 [Peer Reviewed Journal]

The Author(s) 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0554-6 ;PMID: 31182824

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7
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Genetics in medicine, 2019-04, Vol.21 (4), p.837-849 [Peer Reviewed Journal]

2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0268-1 ;PMID: 30206421

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8
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
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WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts

Journal of human genetics, 2019-04, Vol.64 (4), p.291-296 [Peer Reviewed Journal]

2019© The Author(s) under exclusive licence to The Japan Society of Human Genetics 2019 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-019-0565-9 ;PMID: 30692598

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9
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Genetics in medicine, 2013-11, Vol.15 (11), p.901-909 [Peer Reviewed Journal]

2013 The Author(s) ;American College of Medical Genetics and Genomics 2013. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2013.129 ;PMID: 24071793

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10
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.736-742 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jul 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.251 ;PMID: 23188044

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11
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
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Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability

Scientific reports, 2023-12, Vol.13 (1), p.22807-22807, Article 22807 [Peer Reviewed Journal]

2023. The Author(s). ;The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-50285-z ;PMID: 38129582

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12
NAA10-related syndrome
NAA10-related syndrome
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NAA10-related syndrome

Experimental and Molecular Medicine, 2018, 50(0), , pp.1-10 [Peer Reviewed Journal]

2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1226-3613 ;EISSN: 2092-6413 ;DOI: 10.1038/s12276-018-0098-x ;PMID: 30054457

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13
The 3q29 deletion confers >40-fold increase in risk for schizophrenia
The 3q29 deletion confers >40-fold increase in risk for schizophrenia
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The 3q29 deletion confers >40-fold increase in risk for schizophrenia

Molecular psychiatry, 2015-09, Vol.20 (9), p.1028-1029 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2015 ;Copyright © 2015 Macmillan Publishers Limited 2015 Macmillan Publishers Limited ;ISSN: 1359-4184 ;EISSN: 1476-5578 ;DOI: 10.1038/mp.2015.76 ;PMID: 26055425

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14
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
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De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay

Journal of human genetics, 2020-07, Vol.65 (7), p.601-608 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-0739-5 ;PMID: 32203252

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15
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Genetics in medicine, 2011-07, Vol.13 (7), p.680-685 [Peer Reviewed Journal]

2011 The Author(s) ;The American College of Medical Genetics 2011. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1097/GIM.0b013e3182217a3a ;PMID: 21681106

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16
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Genetics in medicine, 2018-10, Vol.20 (10), p.1216-1223 [Peer Reviewed Journal]

2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.246 ;PMID: 29323667

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17
Clinical delineation of SETBP1 haploinsufficiency disorder
Clinical delineation of SETBP1 haploinsufficiency disorder
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Clinical delineation of SETBP1 haploinsufficiency disorder

European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1198-1205 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to European Society of Human Genetics. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00888-9 ;PMID: 33867525

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18
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)

Genetics in medicine, 2019-10, Vol.21 (10), p.2355-2363 [Peer Reviewed Journal]

The Author(s) 2019. This work is published under http://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0503-4

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19
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
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Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.95-100 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to European Society of Human Genetics. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00961-3 ;PMID: 34645992

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20
Seven- to eight-year follow-up of the CoolCap trial of head cooling for neonatal encephalopathy
Seven- to eight-year follow-up of the CoolCap trial of head cooling for neonatal encephalopathy
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Seven- to eight-year follow-up of the CoolCap trial of head cooling for neonatal encephalopathy

Pediatric research, 2012-02, Vol.71 (2), p.205-209 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2011.30 ;PMID: 22258133 ;CODEN: PEREBL

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