Publications by authors named "Ghada M H Abdel-Salam"

58Publications

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Prenat Diagn 2020 Aug 24. Epub 2020 Aug 24.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/pd.5818DOI Listing
August 2020

Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?"

Prenat Diagn 2020 Aug 13. Epub 2020 Aug 13.

Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/pd.5804DOI Listing
August 2020

Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

J Pediatr Genet 2020 Sep 21;9(3):207-210. Epub 2019 Nov 21.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1055/s-0039-3400489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7375844PMC
September 2020

KBG syndrome in two patients from Egypt.

Am J Med Genet A 2020 06 28;182(6):1309-1312. Epub 2020 Mar 28.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61552DOI Listing
June 2020

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

Prenat Diagn 2020 04 10;40(5):565-576. Epub 2020 Feb 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/pd.5649DOI Listing
April 2020

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.

Neuropediatrics 2020 02 21;51(1):76-82. Epub 2019 Oct 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1055/s-0039-1698421DOI Listing
February 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
October 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Lenz-Majewski syndrome in a patient from Egypt.

Am J Med Genet A 2019 10 12;179(10):2039-2042. Epub 2019 Aug 12.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61327DOI Listing
October 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 06 23;104(6):1182-1201. Epub 2019 May 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562004PMC
June 2019

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Am J Med Genet A 2019 06 26;179(6):1053-1057. Epub 2019 Mar 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61133DOI Listing
June 2019

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Hum Genet 2019 Mar 18;138(3):231-239. Epub 2019 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-019-01980-3DOI Listing
March 2019

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Am J Med Genet A 2019 03 13;179(3):494-497. Epub 2019 Jan 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61035DOI Listing
March 2019

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Am J Med Genet A 2019 02 21;179(2):237-242. Epub 2018 Dec 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61021DOI Listing
February 2019

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Am J Med Genet A 2018 11 23;176(11):2446-2450. Epub 2018 Sep 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40479DOI Listing
November 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.

Neuroradiology 2018 Oct 3;60(10):1053-1061. Epub 2018 Aug 3.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1007/s00234-018-2063-8DOI Listing
October 2018

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Ophthalmic Genet 2018 04 15;39(2):215-220. Epub 2017 Nov 15.

a Clinical Genetics Department, Human Genetics and Genome Research Division , National Research Centre , Cairo , Egypt.

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http://dx.doi.org/10.1080/13816810.2017.1401089DOI Listing
April 2018

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Metab Brain Dis 2017 06 23;32(3):679-683. Epub 2017 Mar 23.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-017-9993-4DOI Listing
June 2017

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

J Hum Genet 2017 Apr 9;62(5):553-559. Epub 2017 Feb 9.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1038/jhg.2017.4DOI Listing
April 2017

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

Ophthalmic Genet 2017 Sep-Oct;38(5):498-500. Epub 2017 Jan 25.

d Clinical Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.

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http://dx.doi.org/10.1080/13816810.2017.1279184DOI Listing
March 2018

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

Hum Genet 2016 10 8;135(10):1191-7. Epub 2016 Aug 8.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-016-1722-2DOI Listing
October 2016

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Metab Brain Dis 2016 10 7;31(5):1171-9. Epub 2016 Jul 7.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-016-9861-7DOI Listing
October 2016

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Am J Med Genet A 2016 08 2;170(8):2133-40. Epub 2016 Jun 2.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37724DOI Listing
August 2016

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Pediatr Dermatol 2016 Mar-Apr;33(2):e109-13. Epub 2016 Feb 12.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/pde.12821DOI Listing
January 2017

Expanding the mutation and clinical spectrum of Roberts syndrome.

Congenit Anom (Kyoto) 2016 Jul;56(4):154-62

Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/cga.12151DOI Listing
July 2016

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

Am J Med Genet A 2016 Jan 30;170A(1):277-82. Epub 2015 Sep 30.

Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://doi.wiley.com/10.1002/ajmg.a.37409
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37409DOI Listing
January 2016

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Am J Med Genet A 2015 May 10;167A(5):1089-99. Epub 2015 Mar 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37010DOI Listing
May 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.

Am J Med Genet A 2014 Feb 5;164A(2):480-3. Epub 2013 Dec 5.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.36276DOI Listing
February 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2013 Aug 21;161A(8):1875-81. Epub 2013 Jun 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.36009DOI Listing
August 2013

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Am J Med Genet A 2012 Nov 18;158A(11):2788-96. Epub 2012 Sep 18.

Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477270PMC
November 2012

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Am J Med Genet A 2012 Aug 11;158A(8):1823-31. Epub 2012 Jul 11.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35480DOI Listing
August 2012

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2012 Jun 11;158A(6):1455-61. Epub 2012 May 11.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35356DOI Listing
June 2012

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Am J Med Genet A 2011 Dec 14;155A(12):3035-41. Epub 2011 Oct 14.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.34078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415795PMC
December 2011

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Am J Med Genet A 2011 Nov 11;155A(11):2885-96. Epub 2011 Oct 11.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.34299DOI Listing
November 2011

Ectodermal abnormalities in patients with Kabuki syndrome.

Pediatr Dermatol 2011 Sep-Oct;28(5):507-11. Epub 2011 Jun 22.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01495.xDOI Listing
February 2012

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Am J Med Genet A 2008 Nov;146A(22):2929-36

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.32549DOI Listing
November 2008

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Am J Med Genet A 2006 Jun;140(11):1189-95

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.31205DOI Listing
June 2006

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

Brain Dev 2006 Sep 29;28(8):529-33. Epub 2006 Mar 29.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1016/j.braindev.2006.01.009DOI Listing
September 2006