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Muhammad Muhammad results 36 · Newest (Page 1/2, per page 25)
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Journal: Human Genetics ×Author: Muhammad Muhammad ×Clear All Filters
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Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patientsNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 11 · Springer
Daniel A. Baird; Hira Mubeen; Canan Doganli; Jasmijn B. Miltenburg; Oskar Kaaber Thomsen; Zafar Ali; Tahir Naveed; Asif ur Rehman; Shahid Mahmood Baig; Søren Tvorup Christensen; Muhammad Farooq; Lars Allan Larsen
Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a CHD risk factor in Asian populations with a high degree of consanguineous marriages. Genetic analysis of consanguineous families may represent a relatively unexplored source for investigating CHD etiology. To obtain insight into the contribution o...
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Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service deliveryNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 3 · Springer
Stephanie Luca; Marc Clausen; Angela Shaw; Whiwon Lee; Suvetha Krishnapillai; Ella Adi-Wauran; Hanna Faghfoury; Gregory Costain; Rebekah Jobling; Melyssa Aronson; Eriskay Liston; Josh Silver; Cheryl Shuman; Lauren Chad; Robin Z. Hayeems; Yvonne Bombard; Francois Bernier; Michael Brudno; June C. Carroll; Ronald Cohn; Irfan Dhalla; Jan Friedman; Stacy Hewson; Trevor Jamieson; Rita Kodida; Anne-Marie Laberge; Jordan Lerner-Ellis; Muhammad Mamdani; Christian R. Marshall; Matthew Osmond; Quynh Pham; Emma Reble; Frank Rudzicz; Emily Seto; Serena Shastri-Estrada; Maureen Smith; Kevin Thorpe; Wendy J. Ungar
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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing lossNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 12 · Springer
Farid Ullah; Waqar Rauf; Kamal Khan; Sheraz Khan; Katrina M. Bell; Vanessa Cristina de Oliveira; Muhammad Tariq; Shabnam Bakhshalizadeh; Philippe Touraine; Nicholas Katsanis; Andrew Sinclair; Sijie He; Elena J. Tucker; Shahid M. Baig; Erica E. Davis
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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 4 · Springer
Muhammad Ali; Shahid Y. Khan; Tony A. Rodrigues; Tânia Francisco; Xiaodong Jiao; Hang Qi; Firoz Kabir; Bushra Irum; Bushra Rauf; Asma A. Khan; Azra Mehmood; Muhammad Asif Naeem; Muhammad Zaman Assir; Muhammad Hassaan Ali; Mohsin Shahzad; Khaled K. Abu-Amero; Shehla Javed Akram; Javed Akram; Sheikh Riazuddin; Saima Riazuddin; Michael L. Robinson; Myriam Baes; Jorge E. Azevedo; J. Fielding Hejtmancik; S. Amer Riazuddin
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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 4 · Springer
Ashfaque Ahmed; Meng Wang; Gaber Bergant; Reza Maroofian; Rongjuan Zhao; Majid Alfadhel; Marwan Nashabat; Muhammad Talal AlRifai; Wafaa Eyaid; Abdulrahman Alswaid; Christian Beetz; Yan Qin; Tengfei Zhu; Qi Tian; Lu Xia; Huidan Wu; Lu Shen; Shanshan Dong; Xinyi Yang; Cenying Liu; Linya Ma; Qiumeng Zhang; Rizwan Khan; Abid Ali Shah; Jifeng Guo; Beisha Tang; Lea Leonardis; Karin Writzl; Borut Peterlin; Hui Guo; Sajid Malik; Kun Xia; Zhengmao Hu
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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing lossNARA Subscribed
Human Genetics · 2020 · Vol. 139 · Issue 12 · Springer
Kevin T. Booth; Amama Ghaffar; Muhammad Rashid; Luke T. Hovey; Mureed Hussain; Kathy Frees; Erika M. Renkes; Carla J. Nishimura; Mohsin Shahzad; Richard J. Smith; Zubair Ahmed; Hela Azaiez; Saima Riazuddin
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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimatesNARA Subscribed
Human Genetics · 2019 · Vol. 138 · Issue 10 · Springer
Qing Ouyang; Brian C. Kavanaugh; Lena Joesch-Cohen; Bethany Dubois; Qing Wu; Michael Schmidt; Ozan Baytas; Stephen F. Pastore; Ricardo Harripaul; Sasmita Mishra; Abrar Hussain; Katherine H. Kim; Yolanda F. Holler-Managan; Muhammad Ayub; Asif Mir; John B. Vincent; Judy S. Liu; Eric M. Morrow
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Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyNARA Subscribed
Human Genetics · 2019 · Vol. 138 · Issue 6 · Springer
Irfan Ullah; Naseebullah Kakar; Isabelle Schrauwen; Shabir Hussain; Imen Chakchouk; Khurram Liaqat; Anushree Acharya; Naveed Wasif; Regie Lyn P. Santos-Cortez; Saadullah Khan; Abdul Aziz; Kwanghyuk Lee; Julien Couthouis; Denise Horn; Bjørt K. Kragesteen; Malte Spielmann; Holger Thiele; Deborah A. Nickerson; Michael J. Bamshad; Aaron D. Gitler; Jamil Ahmad; Muhammad Ansar; Guntram Borck; Wasim Ahmad; Suzanne M. Leal
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The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humansNARA Subscribed
Human Genetics · 2019 · Vol. 138 · Issue 1 · Springer
Dayana A. Delgado; Chenan Zhang; Kevin Gleason; Kathryn Demanelis; Lin S. Chen; Jianjun Gao; Shantanu Roy; Justin Shinkle; Mekala Sabarinathan; Maria Argos; Lin Tong; Alauddin Ahmed; Tariqul Islam; Muhammad Rakibuz-Zaman; Golam Sarwar; Hasan Shahriar; Mahfuzar Rahman; Muhammad Yunus; Jennifer A. Doherty; Farzana Jasmine; Muhammad G. Kibriya; Habibul Ahsan; Brandon L. Pierce
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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityNARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 9 · Springer
Regie Lyn P. Santos-Cortez; Valeed Khan; Falak Sher Khan; Zaib-un-Nisa Mughal; Imen Chakchouk; Kwanghyuk Lee; Memoona Rasheed; Rifat Hamza; Anushree Acharya; Ehsan Ullah; Muhammad Arif Nadeem Saqib; Izoduwa Abbe; Ghazanfar Ali; Muhammad Jawad Hassan; Saadullah Khan; Zahid Azeem; Irfan Ullah; Michael J. Bamshad; Deborah A. Nickerson; Isabelle Schrauwen; Wasim Ahmad; Muhammad Ansar; Suzanne M. Leal
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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humansNARA Subscribed
Human Genetics · 2016 · Vol. 135 · Issue 11 · Springer
Majid Alfadhel; Marwan Nashabat; Hanan Al Qahtani; Ahmed Alfares; Fuad Al Mutairi; Hesham Al Shaalan; Ganka V. Douglas; Klaas Wierenga; Jane Juusola; Muhammad Talal Alrifai; Stefan T. Arold; Fowzan Alkuraya; Qais Abu Ali
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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani familyNARA Subscribed
Human Genetics · 2016 · Vol. 135 · Issue 2 · Springer
Sandra Szczepanski; Muhammad Sajid Hussain; Ilknur Sur; Janine Altmüller; Holger Thiele; Uzma Abdullah; Syeda Seema Waseem; Abubakar Moawia; Gudrun Nürnberg; Angelika Anna Noegel; Shahid Mahmood Baig; Peter Nürnberg
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Mutation of ATF6 causes autosomal recessive achromatopsiaNARA Subscribed
Human Genetics · 2015 · Vol. 134 · Issue 9 · Springer
Muhammad Ansar; Regie Lyn P. Santos-Cortez; Muhammad Arif Nadeem Saqib; Fareeha Zulfiqar; Kwanghyuk Lee; Naeem Mahmood Ashraf; Ehsan Ullah; Xin Wang; Sundus Sajid; Falak Sher Khan; Muhammad Amin-ud-Din; Joshua D. Smith; Jay Shendure; Michael J. Bamshad; Deborah A. Nickerson; Abdul Hameed; Saima Riazuddin; Zubair M. Ahmed; Wasim Ahmad; Suzanne M. Leal
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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorderNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 11 · Springer
Iltaf Ahmed; Kirti Mittal; Taimoor I. Sheikh; Nasim Vasli; Muhammad Arshad Rafiq; Anna Mikhailov; Mehrnaz Ohadi; Huda Mahmood; Guy A. Rouleau; Attya Bhatti; Muhammad Ayub; Myriam Srour; Peter John; John B. Vincent
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Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 8 · Springer
Asif Mir; Kumudesh Sritharan; Kirti Mittal; Nasim Vasli; Carolina Araujo; Talal Jamil; Muhammad Arshad Rafiq; Zubair Anwar; Anna Mikhailov; Sobiah Rauf; Huda Mahmood; Abdul Shakoor; Sabir Ali; Joyce So; Farooq Naeem; Muhammad Ayub; John B. Vincent
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Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani familyNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 11 · Springer
Muhammad Farooq; Hiroyuki Nakai; Atsushi Fujimoto; Hiroki Fujikawa; Klaus Wilbrandt Kjaer; Shahid Mahmood Baig; Yutaka Shimomura
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Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genesNARA Subscribed
Human Genetics · 2012 · Vol. 131 · Issue 3 · Springer
Umm-e-Kalsoom; Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Muhammad Ansar; Wasim Ahmad
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Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16qNARA Subscribed
Human Genetics · 2012 · Vol. 131 · Issue 2 · Springer
Muhammad Hashim Raza; Rana Amjad; Sheikh Riazuddin; Dennis Drayna
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An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood groupNARA Subscribed
Human Genetics · 2012 · Vol. 131 · Issue 2 · Springer
Guntram Borck; Naseebullah Kakar; Jochen Hoch; Katrin Friedrich; Jan Freudenberg; Gudrun Nürnberg; Rüstem Yilmaz; Shakeela Daud; Dost Muhammad Baloch; Peter Nürnberg; Johannes Oldenburg; Jamil Ahmad; Christian Kubisch
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Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani familiesNARA Subscribed
Human Genetics · 2011 · Vol. 129 · Issue 4 · Springer
Naveed Wasif; Syed Kamran ul-Hassan Naqvi; Sulman Basit; Nadir Ali; Muhammad Ansar; Wasim Ahmad
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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12NARA Subscribed
Human Genetics · 2011 · Vol. 129 · Issue 4 · Springer
Emad Muhammad; Neta Leventhal; Galit Parvari; Aaron Hanukoglu; Israel Hanukoglu; Vered Chalifa-Caspi; Yael Feinstein; Jenny Weinbrand; Harel Jacoby; Esther Manor; Tal Nagar; John C. Beck; Val C. Sheffield; Eli Hershkovitz; Ruti Parvari
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DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2NARA Subscribed
Human Genetics · 2011 · Vol. 129 · Issue 4 · Springer
Sulman Basit; Kwanghyuk Lee; Rabia Habib; Leon Chen; Umm-e-Kalsoom; Regie Lyn P. Santos-Cortez; Zahid Azeem; Paula Andrade; Muhammad Ansar; Wasim Ahmad; Suzanne M. Leal
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Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33NARA Subscribed
Human Genetics · 2010 · Vol. 128 · Issue 4 · Springer
Muhammad Hashim Raza; Sheikh Riazuddin; Dennis Drayna
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Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genesNARA Subscribed
Human Genetics · 2010 · Vol. 128 · Issue 2 · Springer
Sulman Basit; Ghazanfar Ali; Naveed Wasif; Muhammad Ansar; Wasim Ahmad
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Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3NARA Subscribed
Human Genetics · 2009 · Vol. 125 · Issue 4 · Springer
Muhammad Tariq; Muhammad Nasim Khan; Wasim Ahmad
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